A PGD blog

Tabitha at three months old

2012-02-25T02:39:00.001-08:00

Tabitha is now three months old so this blog is well over due some photographs! She is getting more like Dexter every day. She weighed 14 lbs and 11 oz last week when she had her second lots of injections, which is the 91st percentile. So she is a big baby after all. I thought she wasn't as big as Dexter was, but she can't be far off. It explains why she is growing out of her clothes so fast. Quite a few of the 3 to 6 month clothes are already in the too small box.

Tabitha had lots of cuddles from her cousin Tiegan when they visited over Christmas

Dexter is being a frog, Tabitha is 7 weeks old

These photographs are from this morning. We are just about to go on a walk to the park, we'll probably stop at a pub for lunch on the way back. It looks like lovely weather out there.

Tabitha, three months old with her big brother Dexter

Life with two children

2012-01-24T14:15:00.000-08:00

I can’t believe 9 whole weeks have passed since Tabitha arrived. I didn’t mean to take this long to get round to blogging, she has changed so much already. She smiles, she weighs a lot more (5.7kg or 12.5lbs), she watches me as I walk around and she tries to hit the toys which hang down on her playmat.

Dexter absolutely loves her and constantly covers her in kisses. I have to watch him carefully as he tries to pick her up, he gives her toys and once I found a cheerio on her chin where he had been trying to feed her. He can be a little bit rough with his cuddles, but it is all well intentioned. He loves to help me change her nappy and often goes to get her clothes. He seems to think the singular of clothes is clothe (makes sense I suppose). So today he said he was going to get her a new clothe (she had just been sick on her top).

When she was first born he was a little unsure about her. Here is a list of some of the funny things he said. It will make a nice record for our family, to look back at in years to come.

· The first thing he said when he met her in the hospital – “She can’t talk”.

· Still in the hospital on their first meeting, he saw her breast feeding – “Baby sister is biting you Mummy, he's biting you” (Everyone is a "he" to Dexter, whether they are male or female)

· A few days later, my belly was still looking very pregnant – “You’ve got another baby sister in your tummy”. Charming!

· For the first few days he told people “Baby sister is going back in Mummy’s tummy”. Dexter’s three year old cousin Jacob was under the impression that Tabitha had gone back in my tummy as Dexter had been telling him that was the case.

· Announced to all his carers at nursery “My baby sister gets milk from my Mummy’s bub”. (Bub is how he says boob.)

· Last week as he was leaning his naked chest right over Tabitha’s face. “I will feed Tabitha some milk from my bub”

As you can probably tell, he is fascinated with me breastfeeding Tabitha. After a few comments in the early days that made me worry he was jealous of her, he now just seems to love having her around. He especially likes me to lay her in his bed next to him, while we read stories at bed time and gets quite cross when I take her away.

Hope all my blog readers had a nice Christmas and New Year. It was our best one ever, in our new house, with our finally complete family.

Thanks to one of my bloggy PGD friends for sending Dexter a hungarian DVD. He really likes it! It is a cartoon about a rabbit with long checkered ears. He calls it his special DVD.

Other news

We were in our local paper after Tabitha was born. It was front page on Christmas week, so when we went in Sainsburys there was a whole row of newspapers with our picture staring back at us. It was so strange to see ourselves like that. It’s a very dodgy picture of us adults but Dexter and Tabitha look gorgeous. Here’s the link.

We are also on the MDSG website.

Tabitha

2011-11-25T07:15:00.000-08:00

Welcome to Tabitha Libby who arrived at 00:42 on 23^rd November 2011. She was 3.73kg or 8lbs 2oz. We are all doing well and Dexter is enjoying being a big brother. He was a bit unsure the first time he met her, but he keeps giving her lots of cuddles and kisses now.

She looks exactly like Dexter did when he was born, except much smaller. Here are a few photographs.

Tabitha, about 45 minutes old

Steve and Tabitha at the hospital

Tabitha

Dexter having a look at his new sister, now we are back home

Early labour

2011-11-22T03:57:00.000-08:00

Warning – don’t read if you are squeamish. This post is all about labour and my cervix!

I woke up at 5.00am this morning feeling some mild contractions. I also had the show, for definite this time. I thought I had it a week or so ago, but wasn’t certain. I definitely did this morning. I wasn’t sure if it really was labour, so Steve still went to work as we didn’t want to risk wasting a day of his paternity leave on a false alarm.

I called my parents and they came over just in case anything started to happen quickly. I also called Jessop’s wing (my maternity hospital) and told them the situation. At that point I was having contractions every fifteen minutes or so. I had one while on the phone that was so strong it made me cry. The lady on the phone told me to come in to the hospital and to call Steve to come back from work.

I have two furniture deliveries planned for today and a supermarket shop delivery coming. When my Mum and Dad arrived, my mum and I got my hospital bags and Dexter’s overnight bag and dropped Dexter off at nursery with the intention of going straight to the hospital. My dad waited at my house for the deliveries. On the way, however, the hospital called and told me not to go to the hospital but to go home, and they would get the community midwife to come to me. They obviously didn’t want me there taking up a bed too early.

So we then started driving home. A few minutes later I get another call telling me to go to a children’s centre and see a midwife there. We did that, and I had an internal examination to see what was going on, though by this time the contractions were less frequent and not as strong.

I was told that my cervix is still 3cm dilated but it is shorter. Apparently that means that the contractions have been progressing things . I had a mild one whilst I was with the midwife and she could feel it happening.

The midwife said go home, maybe go for a walk if I want to move things along (probably won't as my back will ache if I do). Apparently my cervix is “ripe and ready” so as soon as I feel strong proper labour contractions, I need to go straight to the hospital and not waste time, as it is quite likely it will not take long for the baby to be born this time. She said she has documented all that information and will tell Jessop’s next time I phone up, they are not to tell me to stay at home.

So here I am at home, just waiting and writing on my blog. Steve is at home too and my parents are here. The contractions have started to be a bit more regular and stronger. I was worried they were going to stop but I don’t think that now. It seems it is just a case of waiting.

This morning when I had a really strong contraction it brought back how painful labour is. I think nature makes you conveniently forget the pain. If it didn’t no one would ever have second babies! But it all came flooding back and that made me a bit scared. Can’t be avoided though, so I’d better just not think about it.

Overdue!

2011-11-21T13:14:00.000-08:00

Midwife appointment

I am now 40 weeks and 1 day pregnant according to my IVF dates (4 days overdue according to the apparently less accurate date from the 12 week scan).

I had a midwife appointment this morning at home. She asked if I had had any tightenings. I told her that the night before last I woke up in the middle of the night thinking that labour might be starting, as I thought I was having some mild contractions. I decided I wouldn’t wake Steve until I was a bit more sure and the next thing I knew I must have fallen asleep again as it was morning. It obviously wasn’t the start of real labour.

The midwife did a membrane sweep to help encourage things to get moving and apparently I am already 3cm dilated. She said she therefore wouldn’t book me an induction appointment yet as I probably wouldn’t need it. I started to get excited thinking that meant the baby was imminent, but then she said she’d book me another midwife appointment for next week and if nothing had happened by then, she would book me an induction appointment. Apparently being dilated doesn’t necessarily mean you are about to have the baby, especially if you have already had a baby before. It must surely mean things are getting close though. I hope so.

So here I am waiting for her to arrive. I have had a lovely few days with Dexter and after all the chaos of moving house, I was glad to get that time with him, so am pleased she didn’t come early. But now would be a very convenient time for her to arrive as I am getting a bit sick of the aches and pains.

Today has been a pretty pain free day but yesterday my legs were terrible. They were constantly aching. It was kind of like my usual Myotonic dystrophy pain, but perhaps a bit stronger. The day before that, I had a different kind of pain in one of my legs. Pins and needles in the morning, turned into an all day leg ache. I have also been getting a variety of types of back ache, sometimes just the normal lower back ache that I suppose lots of pregnant people get, other times it is a sharp pain as if I have a trapped nerve. It makes me limp and walk funny. Sometimes one of my legs gives way a bit. It doesn’t even always happen at the same side either.

Except for those annoyances, I am now feeling a lot more relaxed after a few days of doing very little. There are still lots of boxes in our house that need unpacking but I have mainly been ignoring them. We have got all the important stuff out of boxes, everything else can wait.

Two extra things

I just want to send all my love to my friends who have just had a house fire. Everyone in their family is safe, but they have had to move out as part of their house is gutted and the rest is damaged from the smoke and water. It must have been scary, but at least it is only belongings that are damaged and not people.

Also I wanted to mention a new PGD blog that Hope2011 has started and brought to my attention. It is in my sidebar but here is the link if you are interested. I am glad there is a new one starting, I will be following her progress. I really hope she is lucky. I and many other fertility bloggers know what it is like to go through failed cycles so I really hope they are successful the first time!

Hopefully for my next post I’ll either be telling you all I am in labour or that a baby has been born!

Here is a picture of Dexter...

Dexter looking cute, having his hair cut

Target Research

2011-11-15T08:32:00.000-08:00

In this article of the Target Research magazine, which is produced by the muscular dystrophy campaign, you will find Steve, Dexter and me. I really like this article as it gives the main points of our story in just two pages and it is recent enough that both Dexter and his sister get a mention. Plus Dexter looks super cute in the picture.

I will save it for the children to read when they are older. I already have it at home as I subscribe to these magazines. Dexter points at the picture and says ”just like Dexter”.

I hope the article helps some people realise that there may be another option for them to start a family. If you have a genetic condition, you may not be told about PGD by your doctors. I never was.

You can subscribe to Target MD and Target Research here if you want to keep up to date with information and research about muscular dystrophy.

PGD, Medicare in Australia and Myotonic dystrophy

2011-11-15T07:57:00.000-08:00

I have been sent an interesting article about issues with getting help with the cost of pre-implantation genetic diagnosis (PGD) in Australia. I don’t know much about the Australian healthcare system, but it seems from reading the article, that the problem is related to legal ambiguity about whether an embryo counts as an “Australian resident or eligible overseas applicant”.

I know I have readers from Australia, so I thought this might interest them.

The family who are given as an example of people who are affected by this issue are the family of Abby Baines. Abby sadly inherited Myotonic dystrophy from her mother Naomi, and passed away at the age of just 5 weeks.

I have mentioned before in my blog, that it isn’t uncommon for this to be the way that a family realise they have Myotonic dystrophy. An undiagnosed mother, gives birth to a much more severely affected child and then the condition can be traced back to other relatives, who may have symptoms that have gone unnoticed or undiagnosed. It is so sad and my heart goes out to the Baines family.

Here is the article that I was sent.

Here is the same article but it has a video clip of Scott and Naomi Baines talking about Abby, their IVF and PGD journey which enabled them to have Jonathon and their attempts to get him a brother or sister. I hope they are successful. It really isn't fair that PGD is so often only available to people who are financially well off.

Further information:

Medicare

Midwife appointment - 38 weeks 3 days

2011-11-11T01:48:00.001-08:00

This midwife appointment was at my house (which is my new house!). Usually you have the home visit a bit earlier but the midwife wanted to wait as she is supposed to see where the baby will be living. We only finished moving in two days prior to this appointment, so I hope she could see past all the boxes and mess! We haven’t even got a cooker (it arrives next week), though we have been eating well as we have lots of other kitchen gadgets

I asked the midwife if the baby was engaged. She had a feel and said she could hardly feel any of her head (I think she meant because it is down in the pelvis, i.e. engaged). Everything else was fine. My next appointment is booked for two weeks time. If the baby hasn’t been born by then, I’ll be having a membrane sweep at that one.

Yesterday, my mum and I sorted through all my baby clothes. Thanks to my sister and friend Olivia I have lots of lovely ones. They were all mixed up in different ages, so we sorted them out into sizes. It took hours, but now we are all ready to put them in her wardrobe. New furniture is being bought at the weekend so we can get her room prepared. She obviously won’t need her own room for a while yet, as she’ll be sleeping in our room. It will be good to have her room ready though so she has her own drawers and cupboards.

Not long to go now and Davina will be here with us.

Consultant appointment - 37 weeks and 4 days

2011-11-03T14:51:00.000-07:00

Today I saw my consultant for the first time in the whole pregnancy! I saw someone from his team at my first Jessops hospital appointment but have never actually met him. Today’s appointment was requested by me, as I was concerned that I had only been seeing my midwife. I wanted to be sure there was a plan in place for the birth, especially with regards to anaesthetics and pain relief (because of my Myotonic dystropy).

I was right to request the appointment as although I was referred to an anaesthetist in early pregnancy I haven’t seen one and it seemed like no plan had been made. The obstetrician I spoke to was going to refer me for an urgent appointment with the anaesthetist, but she managed to get hold of him on the phone and he said it wasn’t necessary, but she should find the plan he made last pregnancy and we would follow that. So I have a plan now and it is exactly the same as for Dexter's birth. I will have an epidural which then can be topped up should I need a caesarean. Lots of the pain relief and anaesthetic drugs are not safe for people with Myotonic Dystrophy so options are limited.

The obstetrician also fetched my consultant and we had a quick chat with him. He reassured me that Myotonic Dystrophy is plastered all over my notes. He also said they would especially highlight the bleeding that happened last time so that everyone would be prepared again.

I asked about when to come in to the hospital and I am to go in as soon as I get the first signs of labour. So no waiting at home during the early stages like most people in England do. This is what I did last time as well.

I feel much more reassured now I have had that appointment. I feel like they know I am coming soon and will be ready for me.

Another midwife appointment - 37 weeks

2011-11-01T11:26:00.000-07:00

Had another midwife appointment on Friday when I was 36 weeks and 5 days pregnant. It wasn’t my usual midwife. My glucose was fine this time and the midwife said that I was still measuring a little bit small but nothing to worry about and she wouldn’t refer me to the consultant because of her size.

I am however getting referred to the consultant as I was concerned that I haven’t seen one since my checking in appointment when I was first pregnant. Last pregnancy I saw the consultant many times.

I just want to check that they have planned the birth and are prepared for the fact that I have Myotonic dystrophy. I am likely to get tired more quickly, be rubbish at pushing and to lose a lot of blood. These are the things that happened last time, they aren’t necessarily because of my Myotonic dystrophy. I had a follow up consultation after Dexter’s birth and was told that it was good that they were prepared for the fact I may have lost a lot of blood as they had the relevant drugs ready for me. (I was given a drip that helped me to continue contracting after the birth. I also had people doing womb massage on me.)

I do think that my hospital, were really great last time, so I want to make sure they have made the same preparations this time.

That appointment will be on Thursday.

Pregnancy update

I’m now 37 weeks and 2 days pregnant.

I have been getting more and more tired, I can’t stand up for long without back ache and I can’t walk very far. I rarely get an uninterrupted night’s sleep, which has made the long hours I have been working even harder.

Today I thought the baby might be coming. I thought my waters might be starting to break but it seems not. My waters breaking was the first sign of labour with Dexter. I need to keep an eye on it in case they are leaking. There have been a few other signs too that make me think that some things are starting to happen. We could really do with her staying in there for at least another week as we aren’t ready yet!

Other stuff

I finished my analytics contract yesterday and just have a few other bits of work to do before I can relax completely. Of course my landording won’t stop just because I’m having a baby and I have new tenants moving in to a property in about 2 weeks so I am going to have to make a back up plan, in case I can’t make their check in appointment.

Not the best timing in the world, but we are actually moving into a new house in a few days time! Baby needs to stay where she is for the moment. We found a house that we really wanted and as it was a repossession we had to act quickly to get it (offer was only accepted about 7 weeks ago). It has needed quite a bit of basic refurbishment: carpets, decorating, gas, electrics, and joinery. All the internal doors had been taken, in fact the place had been stripped of anything that could be sold. Organising all that has kept us really busy for the last three weeks, but we are planning on moving in on Saturday. It is virtually ready, but we have to move in whether or not it is ready, as our current house has been promised to some tenants.

Dexter is having his nursery hours reduced from next week. He was due to go to nursery today, although I kept him off because I haven’t seen him enough of him recently and we had a lovely day together.

So there is a lot of change going on in our household over the next few weeks. Dexter will have a lot to get used to! It will all be for the best in the long run though and I am sure he will love having a new house and sister.

Increased compensation for egg donors

2011-10-19T13:23:00.000-07:00

Some of my readers, who have been following this blog for a while, will know that Steve and I were considering using an egg donor. It nearly happened on cycle three, until we heard we had got one last round of NHS funding for Pre-implantation Genetic Diagnosis. That was when Dexter was conceived.

It was also going to possibly be our next step if cycle 6 had failed, but here I am pregnant with baby number two. I did a lot of research at the time and we had decided we would go to Spain because of the waiting lists in England. There is a shortage of egg donors here in England. Most people doing IVF have the added worry of a biological clock to think about so clearly waiting lists aren’t welcome.

The HFEA is to treble the limit allowed for compensation to egg donors. It is to be increased to £750 from £250. I have heard quite a lot about this on radio 4 on the way to and from work today, here is a clip for those who are interested. It features Nicola Dawson talking about her twins Mia and Hannah, who were conceived in Spain using donor conception.

The relevant part is at 00:10:40 to 00:15:02. (The link will stop working in a week).

http://www.bbc.co.uk/iplayer/console/b015zqvc

I personally think £750 still seems quite low as a level of compensation. Perhaps my opinion is a bit coloured by my history, as it cost us a lot more than £750 to retrieve my eggs. Even if all we include is travel expenses, time off work and extra child care, it was very expensive. Of course I had to travel to London. I suppose you normally do it at a local hospital, so in those cases, maybe people can just go to work a bit late rather than have to take whole days off. Plus their travel expenses will obviously be lower.

Even though I think it is still quite low it is certainly a step in the right direction and may make a small difference to the length of waiting lists. It is such a shame that so many people feel like they have to travel abroad for treatment. IVF is stressful enough without having to be away from your home comforts.

It was good to hear of a success story. Congratulations to Nicola on become a Mum.

Speaking of egg donor success stories, I just noticed on Angela F’s blog that she has had her baby! Congratulations to Angela too

Further information:

http://www.guardian.co.uk/lifeandstyle/2010/aug/22/spain-fertility-tourism

Midwife appointment and pregnancy update

2011-10-11T14:16:00.000-07:00

Midwife appointment

I had a midwife appointment today. I'm 34 weeks pregnant. The baby was wriggling around a lot, she has her head down and her bottom upwards.

There was a trace of glucose detected when I had my urine test but as it was just a trace the midwife wasn't concerned.

I asked if they could tell if the baby was going to be big, seeing as Dexter was 9lbs 14.5oz. I was surprised at the answer, as I was told that she is a bit on the small side. In fact, if she is still a bit small by my next apppointment then the midwife said she would refer me to the hospital. It is supposed to be a consultant led pregnancy, though I have only seen a consultant once in the early days, not sure why that is. Last pregnancy I had lots of consultant appointments at the hospital.

The last thing the midwife said to me was to eat lots of fatty foods! Sounds like a good excuse for eating cake. Or perhaps I shouldn't be eating a lot of sugar if there was a trace of glucose. Who knows. It's all just another thing to worry about.

Anyway, I think because it didn't all go perfectly at this appointment I might reduce my working hours a bit. I have 2.5 weeks left at work, but I was offering to do a few extra days from home to help them out in case there is any follow up work. It is quite possible there won't be any so think I might change my mind and just finish work completely. Don't want to get stressed.

General pregnancy update

This pregnancy is much harder than my last one. I am more tired, I am getting more back ache and sometimes I get sharp pains in my stomach. I have started getting cramp again in my calves (had that mid pregnancy and then it stopped). The biggest issue seems to be walking any distance, which I have to do every day, to get to my workplace from my car.

All of those symptoms mean I am not sleeping well either. I suppose in the grand scheme of things, I am not suffering any more than most pregnant people, it's just that the last pregnancy was so easy, I was expecting this one to be similar.

Not long to go now and Davina will be here. Dexter is seeming to be getting much more aware. He tells his friends at nursery about his baby sister in Mummy's tummy. His toddler friends like my bump and often run over to touch it.

Two magazine articles about our PGD

2011-10-11T06:53:00.000-07:00

I have just received a copy of Lime magazine in the post. If you haven’t heard of it, it’s a magazine for parents, carers and families of children with special needs. Steve, Dexter and I are in it, in an article about PGD and Myotonic dystrophy. The article was written when I was in my two week wait so I didn’t even know I was pregnant at the time. You can’t see it online, but in case anyone wants to buy the magazine, here is their website.

We are also going in the muscular dystrophy campaign research magazine which is called Target MD. We are in the next issue which unfortunately won’t be out in time for the Muscular Dystrophy Campaign national conference on the 15^th, but I think it will be out shortly afterwards. That will be online eventually so I’ll add a link here later. Myotonic dystrophy gets a mention in the article about research just before our PGD article as well.

It's great that we are still getting in magazine articles even though I have finished the PGD now. The more publicity the better it all helps raise awareness, which makes it easier for people doing PGD and is good for people who have a genetic condition but didn't even know it was a potential option.

More research news from the Muscular dystrophy campaign

2011-10-01T12:50:00.000-07:00

There have been a few more bits of research news from the muscular dystrophy campaign over the last month or so.

Duchenne

The next phase of the Duchenne Exon skipping trials started in the US. I wrote a post about the first phase already. Here is a statement on the MD campaign’s website. They are now testing higher doses and for longer periods of time. It’s a shame for the UK boys who were involved in the phase 1 trials though, that they can’t continue to be involved. I really hope we continue to see encouraging results, I’ll be following this research closely via the MD campaign website.

Fascioscapulohumeral muscular dystrophy (FSH)

A couple of research papers have come out about reversing the symptoms of fascioscapulohumeral muscular dystrophy (FSH) using gene therapy. This also could have implications for other types of muscular dystrophy such as Myotonic dystrophy. I have had contact with quite a few people who have FSH via my blog. Here is the MD Campaign's summary on the research. It's very readable (unlike reading actual research papers.)

MD Campaign national conference

On 15th October I'm going to the MD Campaign conference. It will be the first time I've been though I am a regular at the Myotonic dystrophy support group's conference. There will probably be some updates on research and campaigning at the conference. Let me know if you are going via a comment or tweet.

Further information:

Here is some discussion about the FSH research on the talk MD forum.

Sheffield MDSG meeting

2011-09-21T14:10:00.001-07:00

Firstly, in case anyone is wondering where I disappeared to, I’d just like to say I have had a really busy September! I have been working quite a few 12 to 15 hours days and sometimes 6 day weeks. I don’t normally do such ridiculous hours it’s just one of the downsides of working for yourself. Occasionally everything happens all at the same time. October is also looking like a nightmare month, but I’m hoping everything will settle down after that. Just in time for the new baby!

So sorry for the lack of blogging, there is so much I have been planning on writing about.

I’ll start by telling you about the Myotonic dystrophy support group (MDSG) meeting which we just had in Sheffield. I am the local contact person for Sheffield so part of the role is to organise these meetings. Actually I should say “was” as my friend Rachel Wells is taking over seeing as I was voted on to the board of directors at the last MDSG conference. Rachel is a regular at my meetings and we often go to the Muscular dystrophy campaign meetings together too.

Our last meeting was the best turnout yet. We had 25 people, which is a lot for a fairly rare condition. There were three new families along with many of our regulars. A gorgeous little baby, who had Congenital myotonic dystrophy, came. Dexter brought his bike as it’s in a big hall so he was able to amuse himself cycling around whilst we all chatted.

Steve did a little talk about his sponsored three peaks. It was good for us all to hear about the trip and he had lots of funny stories. The weather was absolutely shocking! I’ll do a post about his challenge with some photos!

As well as Steve doing a talk we were pleased that Margaret Jackson came. She is our local family care officer and she let everybody know how she can help families like us. I have been trying to get referred to her for ages unsuccessfully, she would have been the ideal person to help me with my office chair when I was trying to get one with a headrest. I am told I will be referred to her, it is just taking a really long time.

So from now on Rachel Wells will be organising future support group meetings. I will continue going to them of course. I really enjoy getting to chat with other people in a similar boat as my family. If you want her to let you know when they are going to happen you can contact her via the MDSG. Her contact details aren’t on the website yet but they will be.

Jono and Laura's documentary was on again

2011-08-24T13:15:00.000-07:00

What a lot of hits I have had on my blog today and yesterday and it's all because Jono and Laura's documentary "So what if my baby is born like me" was on BBC three again last night.

I didn't even remember (though I was told ages ago) or I would have mentioned it on my blog. It was a surprise when I turned the TV on and saw myself.

Seeing as people are finding my blog as they google Jono and Laura, I thought I would post a link to Jono's fundraising page. He has been doing lots of good work for charity recently. Please give him some money if you can afford to!

http://uk.virginmoneygiving.com/fundraiser-web/fundraiser/showFundraiserProfilePage.action?userUrl=JonoLancaster

Their next documentary will be on TV in the next couple of months. It's about adoption.

Summertime fun

2011-08-20T13:24:00.000-07:00

My blog has been seriously lacking in photos recently so thought I would post some of the fun things we have been doing in the last few weeks.

Dexter’s cousins and his Auntie Helen came to visit from Canada. We all had a lovely time. The last time they saw him he was 6 months old, in fact he crawled for the first time at their house. So he will have been very different this time at 2 and a half years old, running around and talking.

Matthew, Dexter and Tiegan

Dexter had his first ever donkey ride!

Here is a lovely picture of Steve’s family. Steve’s Gran is sitting next to Dexter. She was quite ill at this time and passed away a couple of weeks later. It was good that Helen and the children managed to see her one last time. We will miss Gran a lot. Dexter will miss his GG. (All the great grandchildren called her that).

Steve with his family

I don’t know if I mentioned it on my blog at the time but we also lost my Grandad a couple of months ago. His Myotonic dystrophy was really severe by the end, he was completely housebound and very thin because his swallowing difficulties meant he wasn’t able to eat properly. Dexter was lucky he had two great grandparents, even though it was only for a brief time. It is very sad that Davina won’t meet either of them.

Here I am with two of my best friends who I know from university. We went to Derby with the husbands and children for an open day at the Toyota factory. Everyone (except me) went for a high speed drive on their test track. It was fun seeing how the cars get made.

Here are a couple of pictures from our trip to Chatsworth today. Dexter had a great time playing on his bike and eating ice cream.

I am 27 weeks pregnant now so just into the third trimester. I am really starting to feel pregnant and couldn’t go for a walk with everyone else, I was starting to get back ache just from the small amount of walking I did. I had a lie down on the grass and waited for them. It doesn’t feel like there is still three months to go, I’m going to be huge.

After a few really hard years, interrupted with the very happy event of having Dexter, I think things are finally turning around for our family. We have had a few good things happen recently, Steve’s career is going well and it looks like he can get rid of his weekend working. I’ve had some really good contracts and am enjoying my work. We now have baby number two on the way and can say good bye to the IVF clinic forever!

Ridiculous article on PGD

2011-08-13T00:54:00.000-07:00

Somebody emailed me this bizarre and offensive article about PGD. It is basically all about the things that scare people about Pre-implantation genetic diagnosis and hardly mentions the positive reasons for which it gets used.

http://www.stylist.co.uk/life/how-to-make-the-perfect-baby

I would be interested in hearing other people’s thoughts on it.

Myotonic dystrophy related research

2011-07-31T14:57:00.000-07:00

After hearing about the new bit of research news for people affected by Duchenne, I asked Kristina Elvidge, research communications officer at the muscular dystrophy campaign, (@kelvidge on twitter) what this means for patients with other types of Muscular dystrophy, specifically Myotonic dystrophy. She sent me some links, which I have posted here so that any of my readers with Myotonic dystrophy can have a look.

This is the article that was in the latest target research magazine. The interesting bit for people with Myotonic dystrophy is on page 7, the last page of the gene therapy article.

http://viewer.zmags.com/publication/b9bdbbbd#/b9bdbbbd/9

I think I have posted this link before. It is about some research by Prof. Charles Thornton using mice. It was published in 2009.

http://www.muscular-dystrophy.org/research/news/1179_research_discovers_potential_treatment_for_myotonic_dystrophy

This article about the next generation on exon skipping drugs is very interesting as it actually mentions Myotonic dystrophy and how similar drugs could be made for the heart in Myotonic dystrophy.

http://www.muscular-dystrophy.org/research/news/4108_next_generation_of_duchenne_exon_skipping_drugs_in_the_pipeline

New research from Spain

And finally, this is nothing to do with the Duchenne trials but Kristina also brought to my attention a newly published bit of research. Researchers at the University of Valencia in Spain recently identified a new way to block the genetic mutation causing myotonic dystrophy type 1. Here is a link to where people are talking about it on the research MD website.

http://community.muscular-dystrophy.org/viewtopic.php?f=19&t=983

And here is a link to the research paper. It is very heavy going, we need someone to write it in layman terms. Hopefully Kristina Elvidge will have time eventually. If she does I’ll post the link here.

http://www.pnas.org/content/early/2011/06/27/1018213108.abstract

Update

Dr. Kristina Elvidge has now written a lay summary for those of us who aren't so familiar with reading scientific papers. Thanks for that Kristina!

http://www.muscular-dystrophy.org/research/news/4272_new_lead_for_myotonic_dystrophy_treatment#4

She has included a quote from Professor Darren Monckton (University of Glasgow) on the research. Lots of us with Myotonic dystrophy know his name, he is an expert in the field.

Duchenne research news from the UK

2011-07-25T13:16:00.000-07:00

There have been some really exciting developments in Muscular dystrophy research. The results of some research (known as Exon skipping trials) were published over the weekend. The drug trials have shown that the level of dystrophin (the protein missing in boys with Duchenne) can be increased with no significant negative side effects.

Duchenne muscular dystrophy is a form of muscular dystrophy which mainly affects boys. It progresses at a much faster rate than Myotonic dystrophy (which I have got). Boys who have Duchenne usually will not be able to walk by the age of 12. It is a life shortening illness.

On the way to work this morning, I heard Professor Katie Bushby on the Today program on radio 4, talking about the research. Here is the short clip of her speaking.

http://news.bbc.co.uk/today/hi/today/newsid_9547000/9547530.stm

And here is another clip from the same program of Mrs Claire Bosanquet speaking about her sons, Jack and Tom, who have Duchenne muscular dystrophy. Jack and Tom have been involved in the trial and their mother thinks the drug may have prolonged Jack’s time on his feet and Tom wasn’t falling asleep as much.

http://news.bbc.co.uk/today/hi/today/newsid_9547000/9547623.stm

This really is fantastic news and offers hope to people with Duchenne muscular dystrophy and to those of us with other genetic conditions. We are one step closer to a treatment!

Look at this for a great quote from Dr Marita Pohlschmidt, director of research at the muscular dystrophy campaign. (I stole it from the muscular dystrophy campaign website). It really demonstrates how exciting this news is.

“We have fought to find a treatment for this devastating condition for the past 50 years. Today we can say with real confidence that we're going to win that battle. Parents of these boys can have real hope for the future.”

Thanks to the muscular dystrophy campaign for all the money and time they have invested into the development of this therapy and thanks to everyone who has been helping raise money for them.

Further information:

The full research article in the Lancet

Muscular dystrophy campaign article

Here is Professor Francesco Muntoni speaking on You tube about Duchenne muscular dystrophy and the trials. The clip is 11 minutes long but gives a good explanation of the clinical trial, so is really interesting for those of us with muscular dystrophy.

http://www.youtube.com/watch?v=tkxTn46_9N4&feature=youtu.be&a

Here is Jack and Tom in a TV clip on ITV news.

A BBC article

A Telegraph article with the same video as above. Thanks to my commenter for posting the link.

Here is a TV clip from ITV news in the North East where much of the research took place. The clip is really interesting. It shows Pascal Bailly who has Duchenne muscular dystrophy. Dr Marita Pohlschmidt, director of research at the muscular dystrophy campaign gives her comments and Professor Volker Straub talks about the research.

An update:

Next phase of Duchenne Exon skipping clinical trials has begun in America. Higher doses will be tested and for a longer period of time.

http://www.muscular-dystrophy.org/research/news/4330_next_phase_of_duchenne_exon_skipping_clinical_trials_started

Blogging, a pregnancy update and little Dexter growing up.

2011-07-12T04:53:00.000-07:00

This afternoon I have a neurologist appointment, so I was planning on spending this morning working from home doing my property work. I had a nice lie in but set myself a deadline of 9:00 to be at my computer working.

However Steve called, he’d forgotten a folder and needed it for a meeting. He was working an hour away so I took it to him and didn’t get back home until 11:00. I then have been distracted by blogging and it is now past midday and I am yet to do any work! Looks like I will be an evening worker today. I do have some deadlines to meet.

Here is what I have been reading...

I had a look at my most popular blogs posts and was reading the post about the birth of Dexter and the one where I found out I was pregnant again. There were some lovely comments from people. I was already in tears after reading through those.

Then I found this old post about Beth, Ollie and baby Casper. I checked the link to their website, if you remember it wasn’t working at the time. They had just been on radio 4 so it had gone down from the number of hits it had had. It now works, so I had a look through their website. It is a really lovely way for them to remember Casper and raise awareness at the same time. Of course, reading their website made me cry even more.

Then I read Angela F’s post about how everything has changed for her over the last year. Steve and I are in the same situation of course. A year ago cycle five had just failed and we were about to try and have a frozen embryo transferred. That reminded me how lucky we are to be in our current position. It is such an amazing feeling to be pregnant after all the stress of IVF. Most things in our life are starting to fall in to place now after quite a lot of years of feeling in limbo. Just a couple of other small things to sort out but the major hurdle of getting our family has been achieved.

Pregnancy and Dexter update

Had a midwife appointment last week and she said Davina felt just the right size. My iron was a bit low but not low enough to need iron tablets yet. That has prompted me to eat more green veg, and red meat and to get better at remembering to take my vitamin tablets. I have been a bit complacent with my vitamin tablets since I made it past the first trimester. Iron tablets are horrid! I need to avoid having to take those.

I can feel Davina wriggling quite a lot. Still no big kicks, but lots of movements. I have also started to produce some milk. This happened to me at 20 weeks in my last pregnancy, and I noticed it even earlier this time. I don’t know anyone at all who started getting milk this early so it isn’t the norm (in case you are pregnant and wondering why you haven’t had any yet).

Dexter went to nursery today, for the first time wearing pants. He has been asking to wear pants for a while and has been showing an interest in the potty and very occasionally using it. Most of the time though, he would only sit on it for a few seconds, so he has mainly been wearing nappies except for a few hours at a time at home. On Saturday, he used the potty in the morning and so we took him to the shop to choose some underwear. Over the weekend he has been wearing pants most of the time though on Sunday afternoon after a accident he asked for his nappy again. He has been deciding himself what he wants to wear. This morning he chose to wear underwear and he used the potty so maybe he will wear them all day now! He has a lot of spare clothes in his bag!

He is yet to do a number two on the potty, so I am still a bit nervous about taking him out without a nappy. Steve just called and he said when they arrived at nursery, Dexter went straight to the reception desk and said to the lady, "I'm a big boy, I'm wearing pants!"

Seeing him using the potty, reminds me that he isn’t a baby any more, even though I still think of him as one. He is really growing up.

Time for me, to get some work done. I have been asked to write an article for the Yorkshire post about buy to let. I have been in the paper lots before but this will be the first time I have written something myself for a paper (except for press releases about my landlord meetings). I am quite excited about it, I think it will take me a long time to write it even though it isn’t many words. Writing doesn’t come naturally to me, I’m a numbers girl. Will be a good opportunity to help raise the profile of the NLA and hopefully get more landlords at my meetings though (one of which is next week).

PGD for bilateral retinoblastoma

2011-07-10T04:06:00.000-07:00

The other day I received an email from a lady who is soon to be starting IVF with pre-implantation genetic diagnosis (PGD) to avoid the chance of her future child having eye cancer. She was happy for her email to be shared with others. It is really fantastic news that they have got their funding. Some unfortunate people don’t make it over that first hurdle.

Dear Shona

I came across your blog a few months ago after I saw you and your story on the tv. I found your blog so inspiring and helpful in giving a perspective about PGD from someone who has actually gone through it.

I was born with bilateral retinoblastoma (a form of childhood eye cancer), which I inherited from my father. I have been very lucky as my treatment for it was successful and I managed to keep both eyes and still have good vision in one of my eyes. However, some children aren't so lucky and lose both eyes and there is also a increased chance of secondary cancers. I grew up on the knowledge that there was a 50% chance I could pass this on to any children I might have. Knowing this didn't really mean much to me until me and my husband started thinking about having children and then suddenly we were faced with the chance of a child of ours having cancer, and potentially losing their sight and maybe even their life (although this is rare these days as treatment has a good success rate). IVF PGD was something that didn't exist when I was a child but thankfully it is available now.

Me and my husband had a few options and we have gone between deciding to have IVF PGD, to trying naturally and then back again to IVF PGD. It hasn't been an easy road or decision and I'm very aware that now we have decided, the road ahead will still be difficult. However, I have found your blog inspiring and keeps me thinking that the road ahead will be worth it, if, hopefully, we are successful and have a baby through PGD. I heard that our funding came through today and we now have our initial appointment.

Once again, thank you for writing such an inspiring blog. Sorry for a lengthly email.

Should I test my genes? The price of life

2011-07-06T13:53:00.000-07:00

I’ve just finished watching another TV program about genetic testing and pre-implantation genetic diagnosis (PGD). It is called Should I test my genes? The price of life. There is still a few days left for you to watch it on iplayer, if you are interested. Here’s the link.

I am really pleased to see another program that covers this topic! It can only be a good thing if people are aware of the possibilities of treatment like pre-implantation genetic diagnosis.

Huntington’s got a mention. Huntington’s is the reason that Angela F did PGD and then used an egg donor.

There were also three couples on it who had done, were doing, or were soon to be starting PGD. In fact some of the scenes were remarkably similar to our parts in "So what if my baby is born like me?" There was a couple who had managed to get pregnant on their first cycle of IVF with PGD. Congratulations to them on their current pregnancy. Maybe they will have had their baby by now actually. They certainly deserve a bit of happiness after the grief they had suffered.

One of the downsides of these sorts of documentaries though, is that sometimes the ease in which the documentary makers get their information can be a bit misleading. Adam Wishart did a genetic test over the internet. When there was something in the test results that he had a query about he just popped down to Guys and St Thomas to ask a genetic counsellor some questions.

When my dad got diagnosed with Myotonic dystrophy, I had to wait months to get in front of a genetic counsellor even though I was at a 50% genetic risk of having the condition (actually I was at a much higher risk in my opinion, as I had symptoms). Once I had seen a counsellor, I still wasn’t allowed to be referred for PGD until a blood test confirmed the diagnosis weeks later. (Even though my genetic counsellor accidentally made it obvious to me that he thought I had it – might write a post about that later). Eventually, I was allowed to go on the waiting list for PGD, and the waiting started all over again. The whole process was so drawn out, with absolutely no attention paid to my mental health in the meantime. Some months later, the stress caught up with me, and I started having panic attacks.

Anyway that is another story, this post was supposed to be about the documentary. It just amused me slightly to see Adam Wishart wandering into Guy’s to discuss some internet test results. If only we all had such easy access to medical information from the experts!

Another small criticism is that nobody pointed out that gamete donation was a potential option for people who have or are carriers of genetic conditions. I think people just don’t think of it, including people who make documentaries. It’s a shame as it is a really good potential option for people like myself who don’t have great eggs. And sperm donation doesn’t even involve the use of IVF!

Overall though, except for those small complaints, I thought it was a great documentary, and I really was pleased to see PGD getting such a big mention on TV. Thanks to Adam Wishart for making the documentary and to the BBC for commissioning it!

Good luck to the couple from the documentary, who start their PGD later in the year. (Maybe they are doing it now!)

Further information:

Independent’s review

Adam Wishart's blog

N.B. Jono Lancaster's next documentary is about adoption, he's been tweeting about it. Keep a look out for that one it should be interesting.

20 week scan

2011-07-01T12:43:00.000-07:00

Davina at 20 weeks

On Wednesday, Steve and I had our 20 week scan. It all went really well and no problems were discovered with the baby. The lady who was doing the scan described exactly what she was doing. She checked the brain, spine, kidneys and limbs amongst many other things. She showed us her lips, nose and chin as she checked for a cleft lip. It was really interesting to see a few different views. I have never been given that much detail about what is going on before.

And you will notice I have started referring to the baby as ‘she’! She is definitely a girl! We got a good view of her while the lady checked as well, and there were no boy bits!

Now we will need a new womb name as Boris doesn’t really suit a girl. We have had lots of suggestions from our family and friends. Borisina and Davina seem to be the favourites. Maybe I’ll go for Davina, as Dexter used to be called Davey when he was in the womb.

When we showed Dexter the picture of his baby sister, he took it from me and kissed it. He’s very affectionate.

Go Lord Winston!

2011-06-23T13:49:00.000-07:00

I am a new fan of Lord Robert Winston after seeing him on the Daily politics. The feature is about the issue of some primary care trusts not always agreeing to fund in vitro fertilisation (IVF), even though NICE recommends that three cycles should be funded.

He sticks up for us infertiles and talks about the pain of infertility being as disruptive and serious as many of the other treatments which the interviewer mentioned.

Here is the link for a news article, and a snippet of the feature.

http://www.bbc.co.uk/news/uk-politics-13795110

Pregnancy update

2011-06-22T14:12:00.000-07:00

I’m so behind on my blogging, I haven’t given a pregnancy update in ages!

All is going well, my tummy is growing and I can feel Boris wriggling around sometimes. I am 18 weeks pregnant. Next week I will have another scan, and we are going to find out whether it is a boy or a girl. I have been assuming it’s a boy, for no logical reason, so will be strange if it is a girl. I’ll have to get used to saying “she” instead of “he”.

I have had no sickness at all, but I am still feeling very tired. It is possibly, because I am working more hours now than I was before so maybe I can’t blame it all on being pregnant.

My last analytics contract was supposed to finish in June and I was expecting to have the summer off. The bank however offered me another contract (different job, on a different site) and this new one fits in perfectly before Boris arrives. I am therefore temporarily working in Halifax. I am enjoying it, and it will be good to get some extra money in ready for a new baby. It is still a long commute though and therefore very tiring!

We originally weren’t going to tell Dexter about the new baby until after the 20 week scan. That didn’t work though, as other people kept mentioning it to him. He therefore knows there is a baby growing in mummy’s tummy. He must think it comes out from my belly button, as that’s where he points, when he is talking about the baby.

PGD stats

There were some amazing stats quoted by Sioban SenGupta at the conference. At CRGH they have had 20 odd couples with myotonic dystrophy do IVF with PGD. Those couple have done 43 cycles and those cycles have resulted in 13 babies (or ongoing pregnancies).

So Dexter and Boris account for almost a sixth of their Myotonic dystrophy successes! CRGH have been doing it the longest as well. Guys and St Thomas also will have some stats but I am pretty sure no hospital in the UK will have as much experience as CRGH. Those stats reminded me how lucky we are to have been successful twice.

Myotonic dystrophy support group conference 2011

2011-06-20T15:17:00.000-07:00

This weekend I was in Peterborough for the Myotonic dystrophy support group conference. It was an excellent day as always. My family and I stayed the whole weekend. It is only two hours away, so we could have gone there and back in a day, but we like an excuse for a weekend away.

There were 220 delegates in total. I chatted with lots of people, many of whom I see each year at the conference, some of whom I know from twitter, my blog or the MDF message boards. There were a few people there who come to my Sheffield support group meetings, which was great. We are having our next Sheffield meeting in August.

Dr Chris Turner spoke about the sleepiness from which people with Myotonic dystrophy suffer. He described it as “one of the most disabling aspects of Myotonic dystrophy”. I think tiredness is something that people often underestimate. One man I know got sacked from his job for falling asleep, and another lady I know gave up work because she was struggling to get out of bed in the mornings. Margaret Bowler often mentions that the sleepiness aspect of Myotonic dystrophy is hard for carers, as it can be lonely to be the only one awake, surrounded by sleeping family members. Dr Chris Turner gave some useful tips on how to get better quality sleep at night, in order that you sleep less in the day.

True to form I saw one person asleep by the end of the conference. Fortunately the speakers know the condition well enough, to not be offended by that!

Professor David Brook (the patron of the MDSG) gave an update on the research that is being done in Nottingham. I won’t try and explain what they have been doing as I will get it wrong, but essentially they have found three compounds (drugs) that look like starting points for finding a treatment. There is still a long way to go however, to find a beneficial and safe treatment. Margaret Bowler reminded David Brook that 20 years ago, when the faulty gene for Myotonic dystrophy was discovered, he said he would have a treatment in 20 years! We don’t have a cure yet but progress is being made, even if it does seem to happen so slowly.

There was a speaker called Dr. Ros Quinlivan, who was talking about transition from child services to adult services. There were lots of questions afterwards and some people were saying it was hard to get the services you needed and they didn’t always feel they were listened to. That gave me a good opportunity to mention the Muscular dystrophy campaign’s advocacy service. They will help people fight their battles and get the services they need. Readers with muscular dystrophy should give them a call if they need any help with getting NHS services or perhaps help with housing or benefits.

Dr Sioban Sengupta did a workshop on PGD which I was really pleased about. There was one person there who has been turned down for funding twice. It makes me so mad that some people get no funding, when other people like myself manage to get three cycles funded. It so often depends on where you live.

There was also an election to decide who would become directors of the support group. There were three places available John Kelly, Sue Kelly and I all got places. John and Sue do lots of fundraising and have been helping people with Myotonic dystrophy for many years, since their grandchildren were diagnosed. I am glad they both became directors (again). It is my first time of being on the board of directors, though I have done lots of volunteering for the MDSG over the years. Not sure when the next directors’ meeting is, but I’m looking forward to it.

Here is a video of the bit of kit being used in Nottingham, to do all the drug testing. It is this machine that has enabled the three compunds to be found. It cost half a million pounds!

I have got very behind on my blogging. Not just my blog writing, but my blog reading too. I’ll do some more soon, I have just had a really busy period.

Three peaks in 24 hours

2011-06-14T13:28:00.000-07:00

As I have already mentioned in a previous post, my husband Steve and three of his friends (Ben, Matt and Lorcan) have set themselves the challenge of climbing the three peaks in 24 hours in order to raise money for research into Myotonic dystrophy. Only one of the four of them is an experienced climber. Matt has climbed Everest, so I expect this will be pretty easy for him! Steve likes to weight train and keep fit but climbing mountains is new to him.

They are doing really well with the fundraising and are up to almost £2,000 at the time of writing this post. We are hoping to get more sponsors from people at the Myotonic dystrophy conference and there are still more people to ask so hopefully they will break past the £2k mark soon. If you would like to sponsor them here is the link to their just giving page.

I am going to let Steve tell you what the challenge involves...

We are challenging ourselves to climb the three highest peaks in Scotland (Ben Nevis), England (Scafell Pike) and Wales (Snowden) in less than 24 hours. Travel time will take up around 10 hours which leave us 14 hours to get up and down the three peaks. We are all training hard and are good friends so I’m sure we will push each other to complete the challenge successfully. We are really pleased with the support we have received and hopefully will make a significant contribution to the funds needed to research a cure.

If you want to sponsor them here's the link...

http://www.justgiving.com/24hthreepeaks

Email from a reader with DM1 in the family

2011-06-11T02:07:00.001-07:00

I recently received an email from a reader who has Myotonic dystrophy type 1 (DM1) in the family. He was happy for me to post it as long as it was anonymous and I didn’t include the photos.

It is a real shame that pre-implantation genetic diagnosis (PGD) is so expensive. Many people don’t have access to the benefits it can offer because of financial reasons. I believe we are very lucky in the UK that we have the national health service (NHS). The NHS has many problems and it won’t pay for everything, but in general I believe, it must be so much better than having to rely on insurance. I like many others am guilty of moaning about the NHS sometimes, but letters like this remind me how lucky I am.

Steve and I had three cycles of IVF with PGD funded by the NHS and that was enough to become pregnant with Dexter, our first child. Despite the funding, those three cycles were still expensive because of the travel expenses of getting to London (from Sheffield) for all the appointments, not to mention the lost earnings because of all the time off work.

We didn’t get funding approved for trying to conceive a second child, so that was paid for privately. I wrote a post about the financial side of IVF with PGD.

I know of couples who haven’t had three cycles funded for various reasons, so Steve and I were lucky.

Here’s hoping G and C will be able to do PGD at some point. The sooner the better.

Here is G’s email:

Shona,

I came across your blog while googling PGD and Myotonic Dystrophy.

First, a little bit of information about us:

My name is G and my wife's name is C and we are from USA.
I am 45 years old and C is 34 years old. We have been married since 1998. I was aware before we were married that my wife has Myotonic Dystrophy. She inherited the disease from her father and grandfather. Her grandfather passed away around 20 years ago due to complications from the disease. Her father passed away about 4 years ago also due to complications from the disease. He was 58 years old. The family became aware of the disease when the grandfather was diagnosed. C also has a half sister that gave birth to a baby born with the congenital form of the disease. The baby did not survive. This occurred around the same time as when the grandfather was diagnosed, so C's half sister knew nothing of the disease until it was too late.

C is the only member of her family to have had the genetic test done to confirm diagnosis. This took place in 2001. It was confirmed that she has Type 1 Myotonic Muscular Dystrophy. She has around 850 repeats on the 2nd allele of the defective gene. This is a pretty high number of repeats, yet the disease effects she suffers does not reflect the severity of the number of repeats.

C works full time as a Certified Nurse Aide assisting the elderly and disabled, so that keeps her on her feet and active. Her symptoms include:

- myotonia in both hands - delayed release after gripping tight
- weakness in eyelid muscles
- very occasional difficulty swallowing
- occasional jaw locking causing slurred speech
- intestinal, bowel, cramping, digestive issues
- ALWAYS falls asleep in the car when riding as a passenger
- falls asleep easily during daytime hours
- wasting away of facial muscles on side by eyes causing typical MMD look

I attach a picture of C and her late father in 1998 at our wedding. Her father was completely bald at a young age due to the disease and is wearing a toupee in this photograph. Notice the extreme wasting away of the facial muscles of her father's face:
I did research shortly after we were married and discovered the possibilities that PGD could potentially provide to us. The hope was that someday we would be able to afford to give it a go as this is not covered by insurance.

Well, here we are 13 years later - not getting any younger - and it is still not financially feasible for us to pursue our dream of being parents. It makes us wish that we could immigrate to your country and become citizens so that we, too, could receive the state-sponsored health care and give PGD and in vitro a whirl at making our dreams come true.

We are both so happy to see that you and your husband were able to conceive via PGD with in vitro and have a healthy child free of this dreaded disease. You all are living proof of the results.

Maybe there is a reason we found your blog. We can only hope.

A workshop on PGD – open to anyone

2011-05-31T10:55:00.000-07:00

Peterborough Marriott Hotel

I have mentioned in a previous post that the Myotonic Dystrophy Support Group conference is happening on June 18^th in Peterborough (not Cambridge as was previously advertised).

I spoke to Margaret Bowler today (the lady who set up the support group many years ago) and I was really pleased to hear that she has decided to open up the pre-implantation genetic diagnosis (PGD) part of the program to anybody who is interested. This means whatever your genetic condition you are welcome to this part of the conference. The format is a workshop and the speaker is Sioban Sengupta from the PGD team at the centre of reproductive and genetic health (CRGH).

This is really a great opportunity for anyone who can get to Peterborough, to come and find out more about IVF and PGD. Normally you have to be referred and it can take months to get in front of an expert, so it is really unusual to be able to get this chance.

If you are interested, you have to call the MDSG office beforehand so that they can keep track of numbers. Their number is 0115 9875869. They’ll be able to tell you the exact time of the workshop. There is no charge for the workshop but if you want to stay for the meal, you’ll have to pay for that. I actually find the breaks and meal times are good for meeting people in similar situations so it might be worth staying for lunch.

Steve and I will make ourselves available to anyone who wants to talk to us about our experiences, plus I know of some more people who will be there, who have done IVF with PGD. They may be happy to talk about it.

Click here for full details of the conference:

So what if my baby is born like me?

I have also asked if we can have permission to copy the DVD of the Jono Lancaster documentary “So what if my baby is born like me?” We can then make it available to anyone at the conference, who is thinking about starting a family (and later to anyone who calls the advice line, with fertility related questions). Apparently it is fine to do this as long as we aren’t profiting from it. Maybe people will give voluntary contributions.

MDSG Board of directors

I have been nominated to go on the board of directors by a couple of the other directors, who I know. My nomination has been formally accepted and there will be a vote at the conference (for members only). If you are there and you’re a member, please vote for me!

One of the things I would like to help the MDSG do, if they agree, is to set up a Facebook page and start using Twitter. Social networking sites are such an easy way to tell people about upcoming events like the support group meetings. We should take a leaf from the Muscular dystrophy campaign’s book and use Twitter and Facebook to support the content that is on their website. The MDSG has a really good website nowadays, it can only be a good thing, to drive more traffic to it.

If you are coming to the conference, let me know with a comment and I’ll look out for you.

Further information:

Here is the muscular dystrophy campaign's facebook page. Don't forget to click like if you want the updates to show in your facebook timeline.

Here is the muscular dystrophy campaign on Twitter.

Interesting links

2011-05-22T00:19:00.001-07:00

I read lots of articles, usually on the internet. I’ve seen quite a few interesting ones recently so thought I would post some.

Fertility articles

This one is about the number of twin pregnancies you get amongst older celebrities, and how people rarely admit to using egg donors. I found this quite thought provoking. Why should they tell the world how they made their babies? You especially might want to keep the fact you used donor gametes private as there is a child/children to consider and you might want to find the right time to tell them in the future. However the fact that fertility in general and the use of donor gametes is a taboo, does make it more difficult for other people who go through it. It also does give people false expectations.

http://www.mamamia.com.au/weblog/2007/05/another-day-another-47-year-old-celebrity-pregnant-with-twins.html

Myotonic dystrophy research

Loads of cash has been donated to research for Myotonic dystrophy! I am really hopeful there is going to be a cure in my lifetime. That is not an unrealistic hope as great strides have been made in research. I would like a cure for myself and my family of course, but more importantly, I’d like to see the children and young adults who have got the more severe congenital myotonic dystrophy being cured. They have never known what it is like to be healthy.

http://www.myotonic.org/community/latest-news/urmc-receives-10-million-for-myotonic-dystrophy-research/

On a related topic, Steve (my husband) and his friends are fundraising for research into Myotonic dystrophy. I am planning on writing a post about it in the near future, but haven’t got round to it yet. Please sponsor them. They all work ridiculously long hours and are still finding the time to train. Steve got in from work at 8.00 the other day, went straight for a run, and didn’t eat his dinner until 9.00. That sort of thing is not unusual. He is a very motivated person, who works hard.

http://www.justgiving.com/24hthreepeaks

This article is about some stem cell research done in France which has helped give an insight into Myotonic dystrophy. Steve and I donated our unusable embryos to research including the ones affected by Myotonic dystrophy. I wonder if any of ours were used in this research? We’ll never know exactly what happened to them.

This study focuses on neurological effects such as daytime sleepiness and learning disabilities that can be caused by Myotonic dystrophy. I met Dr. Marita Pohlschmidt at a recent Muscular dystrophy campaign meeting. She said she was going to put me in their research magazine, as they struggle to find patients who are happy to talk about PGD.

http://www.muscular-dystrophy.org/research/news/3572_stem_cells_give_insight_into_myotonic_dystrophy

Disability news

Well done to the four families who decided to take legal action against Birmingham city council over a decision to reduce the provision of care for disabled people.

http://www.bbc.co.uk/news/uk-england-birmingham-13455068

Dating scan and booking in midwife appointment

2011-05-14T02:53:00.000-07:00

I had my booking in appointment with the midwife on Thursday morning, all went well with that. In the afternoon it was my first scan in Sheffield. It dated me as being 13 weeks pregnant though my IVF dates said I was 12 weeks and 4 days. They wrote the IVF dates down in my notes, they must be more accurate.

My care is going to be consultant led (as oppose to Midwife led) because of my Myotonic dystrophy. I am told I don’t need any extra scans though, unless the midwife thinks I need one, as the pregnancy progresses. I will have a glucose tolerance test at 24 weeks. This is because Dexter was a big baby (9lbs 14oz) and that is a risk factor for having gestational diabetes.

Here is the picture of Boris at 12 weeks and 4 days.

Congratulations to my friend and her sister.

Blogger has had something wrong with it for the last few days, and one of the consequences for me, was that I lost a comment which a friend posted. (She will know, who I am writing about.) She just found out she is going to be an Aunt. Congratulations, and pass on my congratulations to your sister. I love to hear IVF success stories. Sorry Blogger has been playing up, please post again!

Nearly finished the IVF drugs

2011-05-10T06:46:00.000-07:00

Pregnancy

I’m now 12 weeks pregnant and yesterday was my first day without taking any medication at all. I haven’t quite finished with the projesterone injections, but this week I am having them every other day. The idea is to wean myself off them, rather than to stop suddenly.

Lots of people are noticing that I am pregnant and saying congratulations. Last pregnancy, I was 17 weeks pregnant before I was showing enough for anyone to risk mentioning it, so I am obviously showing earlier this time. I have been wearing maternity clothes sometimes and am going to start wearing them all the time from now on, as my normal clothes are getting too uncomfortable.

I have my dating scan booked for Thursday and my booking in appointment with the midwife is also Thursday. The midwife appointment had to be brought forward so it was done before the scan! Probably it should have been done by now, but I was a bit slow to tell the doctor I was pregnant.

Three more injections and I will be 100% finished with anything IVF related. I can’t wait for that day.

Heart appointment

I had an appointment with Dr. Wheeldon about my heart today. Of all my hospital appointments this is the clinic that I like going to the most, as you never have to wait! I didn’t even have to sit in the waiting room this time, they just showed me straight in.

I sometimes get dizzy spells. Not sure if dizzy is the right word, I go really lightheaded. I was told my blood pressure is a bit low, which isn’t anything to worry about but maybe that is the reason for going lightheaded sometimes. I have been told before by another cardiologist that I have low blood pressure, so this isn't new information. Everything was fine with my heart scan and 24 hour ECG which I had a few months ago. The ECG showed some Ectopic beats, but I am told that on their own, these are not something I need to be worried about, so overall it was a good appointment.

I am in their diary for annual check ups. People with Myotonic dystrophy are advised to get their heart checked regularly, as even if you have no symptoms at all (that you know of), there could be abnormalities with your heart. Often these sort of problems, can be easily treated if they are picked up in time.

Other things

We have just had a lovely week’s holiday in Chester and Lancaster. We chose Chester as we wanted to stay in England, and I was able to still go to work from there (just for 2 days). Then we visited family in Lancaster. It was lovely to spend a week with Steve and Dexter. Dexter absolutely loved Chester zoo. He has been before, but he is the perfect age for it now, as he was so excited every time he saw an animal (including ducks and squirrels).

The period before our holiday was really hectic as I had a lot of work to catch up on (lots of things had been put off because of the IVF).

I have finished refurbishing my new buy to let house. The carpets went in last week and it is now on the market to rent. Another tenant moved out of a different flat and my new letting agent found me a tenant immediately! I haven’t even had chance to clean it, never mind sort out the gardening and redecorating. My property work only really gets busy when you have a tenant change over, so it was quite bad timing that a tenant left at this busy time. That’s the nature of being a landlord though, you can’t predict when the work will need to be done.

I also have had two NLA landlord meetings to organise and am trying to find a new analytics contract that will hopefully fit in nicely before the baby comes.

Everything should calm down a bit now, once I get all the jobs done for my new tenants.

I’ll post again when I have had my scan on Thursday. Hopefully I’ll have another picture to share with you all.

Womb name

Nearly forgot to mention that we have a womb name now. The baby is called Boris. This is because someone said Dexter was starting to look like Boris Johnson, as he needs a haircut at the moment. Steve said Boris, was a nice name for the baby, but no way is he getting called that after he is born, so he is having it for his womb name instead. Nothing wrong with the name Boris for a baby, but don't really want him named after Boris Johnson.

Some emails from readers – part 2

2011-05-01T11:22:00.000-07:00

Another email which I received demonstrates how not everyone who starts on the path of PGD eventually manages to even begin a cycle, never mind make it to embryo transfer stage.

FSH muscular dystrophy is short for Facioscapulohumeral muscular dystrophy. One thing to be aware of when reading, is that just because the centre of Life in Newcastle wasn’t able to offer PGD to my reader, it may not be the case now. You have to be aware of the constantly changing situation, about which hospitals offer which treatments, when you read about other people’s experiences.

This lady also told me that if anybody wanted to get in touch with her, she wouldn't mind. Email me and I'll pass on your email.

Hi Shona

I came across your PGD blog back in January – I think I found it via Google and have been following your news ever since. I was so happy for you when I logged on one day and found out that your 6th cycle has been successful – a big “Congratulations!!” and hope everything works out well for you.

I have FSH Muscular Dystrophy which was diagnosed when I was 14. It is meant to only affect facial, shoulder and upper arm muscles, but in severe cases like mine, it affects your leg and back muscles. I had always been aware that something was ‘different’ about me because I used to get bullied at school because I couldn’t smile very much. However non of my family thought there was anything wrong and so I never mentioned it to them and just carried on in my own little bubble.

When I was 11, my Mum started getting symptoms of MS (Multiple Sclerosis) and it progressed really quickly and she had to go into a nursing home when I was 13. The year she went into the home, I was starring in a musical at school and in the finale, we all had to raise our arms in the air and keep them there until the curtains closed. I realized I couldn’t keep them above my head for more than a few seconds and didn’t know what was wrong. I was very fit at the time – I went to dance lessons, gymnastics, badminton classes etc. I plucked up the courage to mention it to the physio who was treating my Mum in the home. She said she hadn’t seen anything like that before and so she then mentioned it to my Dad who took me to the GP, who referred me to the hospital where they did blood tests and eventually diagnosed my MD. It was a massive shock to me as I thought I was going to hospital to get some tablets to make everything better. It took a good 10 years before I accepted my condition and was able to openly discuss it with people.

I moved to another city in 2000 met a man who I married 3 years ago. We have a fantastic relationship and he fully understands my condition and the way it makes me feel – he’s my rock, I don’t know where I’d be without him! We have always discussed having a family one day and in 2009 we finally decided to take the plunge and try for a baby. We splashed out on a holiday to Florida that year as we thought it would be our last chance for a big holiday, now that we were planning a family. I didn’t know anything about PGD IVF, all I knew was that I could have a test 3 months into pregnancy to determine if the baby was affected or not. After 3 months of trying and nothing happening, I started getting cystitis like symptoms regularly but every time I went to the GP there wasn’t an infection. I knew something was wrong so asked to be referred to hospital for tests. It took 4 months for them to conclude that I have a cyst on each ovary which is Endometriosis. This was a devastating blow as it can affect fertility, so I asked to be referred to the Centre for Life in Newcastle to discuss the option of IVF.

The Centre for Life then told me about PGD but explained that it couldn’t be done in Newcastle, it would have to be done either in London or Nottingham. As my Dad lives in Leeds, we asked to be referred to Nottingham for convenience and in September last year, funding was approved for IVF PGD at CARE Nottingham. We had our initial consultation in December and everything was going really well, all our questions were answered and we were told that swab tests from me, my husband, my Dad and sister would be sent to America where they’d develop a PGD test and I’d start my treatment at the end of March. We were so excited over the Christmas holidays at the prospect of having the PGD IVF and the fact that it would mean if we were successful, I would avoid passing on my MD to my baby. I would never want to pass my condition onto a child, I couldn’t bear to see a child go through what I’ve had to go through, knowing that I could have done something to prevent it. There is no family history of my condition – my Mum, Dad and sister were all tested at the time of my diagnosis and it turns out non of them had it, it had started in me, so I know that my parents couldn’t have done anything to prevent it, it was pure bad luck.

Completely out of the blue, I received an email in January from Genesis Genetics in Detroit informing me that a test couldn’t be developed for us, because there were no other affected family members! Apparently FSH is such a complex condition, they need genetic information from other affected family members in order to build the test. We were absolutely devastated. CARE are looking into changing their procedures and making sure that couples are aware of the fact that PGD isn’t always possible.

We have now been referred back to the Centre for Life to have normal IVF – I was due to start the treatment in July for the egg collection on 12th August but this date’s been moved back to the end of September now which is very frustrating. If I am successful, I will have the test at 3 months and hope that the baby is not affected. It would be awful to have to terminate a pregnancy at this point, but we both agree that we want to give our baby the best possible start in life.

I was wondering if you had any tips and general advice for someone going through IVF for the first time? I feel very apprehensive about it all and the long wait is just making the apprehension build up. I really admire your strength to have gone through 6 cycles, it must be an emotional and physical strain for you both and I am so pleased that you have achieved a lovely baby and have one on the way. I also admire the fact that you are sharing your experience with others, via your blog, as it can’t always be easy, especially during the unsuccessful cycles.

My husband and I watched the ‘So what if my baby is born like me?’ documentary last week after seeing you mention it on your blog. I had tears in my eyes the whole way through as I could relate to so much of it. It raised some important issues and it’s interesting to hear other people’s opinions on things. The part where you did your pregnancy test was very emotional.

I will keep following your blog and wish you lots of luck with your pregnancy.

Further information:

An FSH support group

FSH information from the muscular dystrophy campaign

Some emails from readers - Part 1

2011-04-29T13:31:00.000-07:00

I have had a few messages and emails recently from readers and two emails in particular stood out. Both ladies didn't mind me posting them, as long as I kept them anonymous. I thought they may help out other readers who are in similar situations.

First email

This lady’s story includes PGD, surrogacy, natural in vitro fertilisation (IVF) and in vitro maturation (IVM). (I had never even heard of the last two of those things.) Since I started blogging I have heard of Ehlers-Danlos Syndrome (EDS) which is the condition she has, I believe it is the same condition Bendy girl suffers from (see further information).

Here is her email. If anyone wants to get in touch with her to find out more, email me and I’ll pass on your email to her. I’ll post the other email in a later post.

I was just idly messing about on the net and came across your blog, from a few months back. I read and read and was crossing my fingers so tightly that this round of IVF would work for you! So I am very pleased that I can offer you my congrats now and wish you a healthy and smooth pregnancy.

My hubbie are just about to do a second cycle of IVF with pgd as I have a condition called Ehlers Danlos (Vascular type). This means that my circulatory system is very weak and I am also prone to uterine rupture. As a result, not only are we going through IVF but we have a surrogate who will hopefully carry our child for us as for me to carry a pregnancy full term would be extremely likely to be fatal for me and/or the baby. To add salt to the wound, we were just using usual stimulation drugs last October and I collapsed with a ruptured splenic artery aneurysm, which it seems was triggered by the hormone drugs. A couple of months later, I also had internal bleeding into my liver capsule, again as a result of the hormone drugs. So we are now doing natural IVF, where the clinic just take my dominant egg every month, without any hormonal intervention. They also have attempted to take other immature eggs and mature these outside of the body in a process called IVM and that has been successful for one embryo. We now have four embies in the freezer and are just hoping to bulk up this basket before we go for pgd.

I thought it would be nice to chat to someone who has been through pgd and also wondered if you would be able to list Surrogacy UK (www.surrogacyuk.org) on your blog at all? They are the organisation through which we found our wonderful surrogate and are incredibly supportive. I wondered if other readers of your blog might find them helpful. Also, our experiences with natural IVF and IVM might give some people hope too.

An internet message

This was just a lovely message that I got from an internet contact. I was really pleased to get it so that is why I have posted it for you all to read. It is good to get some positive feedback about my awareness raising. (By the way dh means darling husband, infertility boards are written with lots of acronyms).

My dh family have never really understood our situation and have in the past caused us a lot of hurt and upset at their lack of understanding and with the mindset that it would just happen for us!! They are aware that I have just been told that I have balanced translocation but no doubt don't understand it. Several of them watched your program and as a result understand a lot more what we are going through, my dh said that there was a level of recognition that had never been there before. Thank you for that Shona hopefully we will gain a little more support from now on. xxxxxxxxxxxxx

Further information:

Ehlers-Danlos Syndrome (EDS)

Surrogacy on wikipedia

The organisation which my reader used to find her surrogate

Natural IVF

In vitro maturation IVM

Guardian article about IVM

Bendy girl is a disability rights campaigner. She also suffers from EDS and she has posted plenty of links to other EDS blogs and websites. Here is her blog.

10 weeks and 2 days scan

2011-04-26T07:17:00.000-07:00

We have just had our last appointment in London and our first scan where the baby actually looked like a baby. I have two pictures, which I have posted below. He was wiggling his arms and legs about a lot.

Our 4cm long baby! 10 weeks 2 days

I am 10 weeks and 2 days pregnant, so I had an abdominal scan this time. It made me quite emotional, as it was the first scan where I felt like it was a real baby rather than an embryo. I have decided it is a boy. I already thought that, because I haven't been feeling sick (I know it isn't a very reliable indicator), but I am even more sure he is a boy now, because he is measuring bigger than 10 weeks. That reminded me of Dexter as he was a big baby. I know it's not really logical to jump from that, to the fact that he must be a boy, but that's what I have decided anyway.

We need to give him a name now. A temporary name for before he is born. Dexter used to be called Davey. My friend Vicky named him. Well actually she was telling us what we weren't allowed to call him, but it stuck and became his pre-birth name. It makes sense why we weren't allowed to call him that, if you know our last name.

We have three more weeks left of Steve having to inject me and then I will be off all the drugs! I can't wait for that day. I have been told to come off the clexane now, so I will just be injecting the projesterone.

As we left the hospital, Steve said that he felt like a weight had been lifted from him. It's really quite a milestone, we never have to make another trip to London, if we don't want to. No more trips to CRGH. Thank you to all the staff there, for helping us get pregnant. To have got Dexter and another baby on the way, is really an amazing gift and I'm very grateful. Don't be offended though that I am glad, we probably won't be meeting again!

Actually, I will see the PGD team because they'll be at the Myotonic dystrophy support group conference, but we probably won't see any of the IVF staff again. Thank you for everything and good bye. I'll send a photo when the baby arrives.

A strange week

2011-04-25T02:28:00.000-07:00

Grandad

Last week has been a week of mixed emotions. My Grandad passed away and we had his funeral last week. You may remember I mentioned he was quite poorly in this post. He was 84 years old and had had a long and happy life. His last year though wasn’t a good year as he barely left the house. Myotonic dystrophy is a slow progressing illness, but it seemed to me like it suddenly got a lot worse for him in his last year. I think it was a vicious circle, he became less mobile and then the fact he didn’t move around much, meant his muscles became even weaker. He found it harder to swallow food, and so his poor diet meant he got thinner and weaker. He could still walk but only tiny distances.

The funeral was really sad. Grandad comes from a big family and there were some family members there who I haven’t seen for many years. There were people there who also have Myotonic dystrophy, some who escaped it and probably some who have it and don’t know, as not everybody chooses to get tested.

It was really nice to catch up with family who we haven’t seen for a long time. Isn’t it ironic, that Grandad would have absolutely loved to have had all those people there in one room, and he wasn’t around to enjoy it.

Goodbye Grandad. We will miss you.

What if my baby is born like me?

As well as the sadness of losing my Grandad there was the excitement of going on TV. It was bittersweet as Grandad was looking forward to watching it. He always used to like seeing me in the paper, or listening to me on radio Sheffield and would have loved to have seen me on TV.

I was pleased with the response from the documentary. When I decided I wanted to raise awareness of pre-implantation genetic diagnosis (PGD) blogging seemed a good way of telling my story, but I was aware that it would only be found by people who are internet savvy and therefore they may well have successfully found out about PGD any way. That was why I went on the radio and contacted some journalists and charities. I had some support from charities and from a local journalist which was great. Going on national TV, will have reached a lot more people though (1.1 million viewers, just from the first time it was aired). The audience will be people who haven’t already heard of PGD. They are watching the TV program because of their interest in Jono and Laura, not because they are interested in PGD already. Probably a very tiny proportion of people watching it will ever need to consider using PGD, but if any of them get diagnosed with a genetic condition or have friends or family who do, then I hope what they saw in the documentary will prompt a bit more research. You don’t know, what you don’t know, so it is hard to do research on something, if you aren’t even aware of it’s existence.

One thing that I wish had been mentioned in the documentary was sperm donation. Gamete (egg, sperm or embryo) donation often gets overlooked. It never occurred to me that I could use a donor egg, until I was already referred to CRGH for PGD. They told me about it, when they went through all the alternative options to PGD.

I think there may still be some more media interest in our story, a journalist for magazines has been in touch and the Sheffield Telegraph want to print some pictures when the baby arrives.

My blog had a huge spike in hits after the first documentary (and smaller ones after the repeats). Mainly hits came from twitter and from people googling things like ‘Jono and Laura’, ‘how to get in touch with Jono’, ‘Is Jono a dad yet?’

Jono isn’t a dad yet (it was only filmed over the last few months), and if you want to get in touch with him, he’s on Twitter @Jono_Lancaster, as am I, @ShonaDav.

Pregnancy

I’m now 10 weeks pregnant. I have been bloated ever since the IVF and my tummy size never really went back to normal (probably the bloating continued because I am pregnant). For weeks people have been commenting on the fact that I am showing already and one complete stranger even asked if I’m expecting. I think it is still just bloatedness though, but to people who don’t know what I look like after IVF (failed or successful!), I probably do look very pregnant. I am wearing my normal clothes at the moment, though they are quite tight. Only other pregnancy symptom is tiredness.

I have another scan this week so I’ll post a scan picture after that.

What if my baby is born like me?

2011-04-15T05:51:00.000-07:00

As I have already mentioned in this blog, we had TV cameras filming us for part of our IVF with pre-implantation genetic diagnosis (PGD). It was so that we could go in a documentary about Jono Lancaster and his girlfriend Laura. Steve and I really enjoyed being involved in the documentary, even if just in a small way. I am pleased as it gets Myotonic dystrophy and PGD a mention on the television. Who knows, maybe somebody with muscular dystrophy like me, or perhaps with another genetic condition, will see the documentary and realise that PGD could help them to have a baby.

The documentary is called "What if my baby is born like me?" and it's on BBC3 on Tuesday 19th April at 9.00pm. It is also repeated a few times. Below is the blurb.

Jono Lancaster, 26, (featured in BBC3's Love Me Love My Face documentary) has suffered rejection and discrimination his entire life - all because of the way he looks. Born with a rare genetic condition, Treacher-Collins syndrome, Jono has no cheekbones or external ears and has endured years of bullying and countless hospital appointments.

The nature of the condition means that any child Jono fathers will have a 50 per cent chance of contracting Treacher-Collins. Now Jono has an important question he wants answered - what if my baby was born like me?

The film follows Jono and his girlfriend Laura as they go on a quest to find out the options available to them should they decide to start a family. Jono meets a variety of families who have faced or are facing this very conundrum. He also meets with youngsters affected by Treacher-Collins to see if attitudes have changed since his days at school.

Confronted by all the options, what will they decide? And will the decisions they make draw them closer together?

Further information:

Jono and Laura were on the BBC this morning promoting the show. Here is an article on the BBC website.

Steve and I were in an article in the Sheffield Telegraph (our local paper)

Steve and I were also in an article in the Star (another of our local papers). Can't find link at the moment, but I'll post it when it goes online.

This post gets a mention in the choose my care daily blog.

Jono and I were on radio Sheffield this morning. Here is the link to iplayer. Our bit is 00:08.38 until 00:18.00.

Here is a snippet from the documentary, about a lovely little girl called Maisie:

Second scan – 8 weeks pregnant

2011-04-12T12:50:00.000-07:00

8 weeks 2 days

Today has been spent in London again, having another scan. I am now 8 weeks and 2 days pregnant. Everything was fine, the baby measures exactly as it should. We saw the heartbeat again, the umbilical cord and the yolk sac which is much smaller now (as it should be).

We will have another scan in two weeks time, and I think this is the last appointment in London. I didn’t even realise I was supposed to have been to the GP to tell them I am pregnant, so they can refer me for my local services. I don’t how I thought they would find out? Maybe I thought CRGH would tell them, I didn’t even think about it to be honest. I will do that on Friday. I need to go to the GP anyway to chase up the referral that I asked for. I want to go to a neurologist who specialises in neuromuscular conditions as I mentioned in this post. I haven’t heard back from the letter I wrote.

When I was pregnant with Dexter I had two pregnancy scans during the first trimester at CRGH, but this time I am having three. I am certainly being looked after. I find it reassuring to have regular scans.

Physiotherapy for my Myotonic dystrophy

2011-04-08T10:08:00.000-07:00

Modelling my new neck collar

Last week, I had a physiotherapy appointment at the hospital. I originally got referred because of some really severe shoulder pain, which has passed now. I believe it was tendonitis caused by the way I sit at work with my head propped in my hand all the time (due to my neck getting tired and not being able to hold my head up). My shoulder is therefore, often pushed up in an awkward position. The GP and physiotherapist also thought that was probably the cause.

At the time the shoulder pain was happening, I couldn’t lift my left arm, I couldn’t carry Dexter. Steve even had to help me get my top half dressed and undressed. One day when he was late back from work, I had to go to bed in the same top I had been wearing in the day, because I couldn’t put my pajama top on. It was so bad I was in tears and incredibly stroppy with everyone.

Thankfully, it was only as severe as that for a few days, however it had been niggling me for a while.

My weak neck has been apparent, though fairly mild, for years. This shoulder pain was the catalyst for me deciding I must do something about it, in order to prevent long term problems. My physiotherapy referral and my access to work appointment are both as a result of this.

After assessing me, the physiotherapist has given me some neck exercises to do. They are really mild exercises and I do them morning and night. He also gave me some core strength exercises but I haven’t been doing those. I don’t think I should be doing any new abdominal exercises so early in pregnancy. I was told it would be fine, but to me it seems silly to take such a risk, at such a precarious time. I told the physiotherapist at my second appointment that I hadn’t been doing them. He agreed I shouldn’t do them if they cause me anxiety, though he was of the opinion it wouldn’t affect the pregnancy.

I have also been given a soft neck collar. In the past I have been told (by my neurologist) I can’t have one as if I don’t use my neck muscles they will get even weaker. I was later given contradicting information at a Myotonic dystrophy support group conference. There, I was told that there can be some benefit in allowing the neck muscles to rest occasionally. My thinking is that when I prop my head up or lean it against things, I am not using the muscles anyway, so I may as well have a collar, which hopefully will help reduce the secondary problems which are caused by my bad posture.

Anyway, this physiotherapist clearly thought I would benefit, so I have one. Here’s a photo of me modelling it. It fits in my handbag so I can have it with me and I only use it very occasionally. So far I have used it when I was working from home using a dining chair with no headrest. Another time when I was when driving back from work in Chester after a 12 hour day. On the way to work, I don’t have neck issues, but on the way back when I am tired, I find my head lolls to the side. The collar was also useful at a two day conference, as you never get headrests at those kind of events of course. I really struggled at this meeting and actually those two days demonstrated the limitations of the neck collar as it wasn’t enough to keep my head up. I think the collar will be useful though, it just can’t solve the problem completely.

This is the first item I have ever owned, that could be described as a disability aid. You would think I would be upset about reaching this milestone in my condition’s progression. I am not at all though. I have noticed the deterioration of my neck muscles for a while now. It is not a new symptom. I believe a collar can only help add to my quality of life, so I am pleased to get one.

Addition to this post

Somebody told me since writing this post that I should check that it is ok to drive with a neck collar on, as they were told by their physiotherapist that if they did they had to inform the DVLA. I will check with my physiotherapist and see if he agrees.

Another radio discussion about genetics

2011-04-07T12:29:00.000-07:00

I was driving to work unusually late for me and I caught this radio discussion discussing whether or not young adults should be offered genetic screening. It was on the Today program.

It talks about Cystic fibrosis, as an example of a condition for which population screening could be used. If two people who are both carriers of Cystic fibrosis meet and decide to have a baby, they may not necessarily be aware that they are carriers. They will have a 25% chance of having a child with Cystic fibrosis. It is often the diagnosis of a baby or child that makes the parents aware that they carry the abnormal gene.

If population screening were introduced then people would be given the opportunity to know in advance, and could make informed decisions before conceiving. Steve and I were glad we had that opportunity. The opportunity only came about for us because my Dad was diagnosed.

It is interesting that pre-implantation genetic diagnosis (PGD) doesn’t get a mention in the program as that is an obvious course of action, that people may choose to take, if they find out they are at risk of passing on a genetic condition.

The discussion starts at 1:50.55 and finishes 7 minutes later at 1:57.37.

http://www.bbc.co.uk/iplayer/episode/b01002xr/Today_06_04_2011/

Further information:

Here is the report from the Human genetics commission.

An article on the NHS website.

An article in the daily mail (a very right wing newspaper in the UK)

An article in the guardian

First pregnancy scan

2011-04-02T01:44:00.000-07:00

Yesterday we saw the little beating heart of our future baby on the scanning machine. Seeing the heartbeat really brings it home to you that it is actually going to become a baby, it’s no longer a blob of cells.

It was a relief that everything was ok still, I am well aware this can be the stage where you discover something has gone wrong, so I was a bit apprehensive. We were also happy that only one embryo had implanted. Don’t get me wrong, we would have loved to have had two new babies in November but we have gone to a lot of trouble doing pre-implantation genetic diagnosis (PGD) to try and ensure that our family will be healthy. Multiple pregnancies are higher risk. I would have been worried that the babies would come too early which can be dangerous.

So really there couldn’t have been a better outcome. One healthy singleton pregnancy is exactly what we set out to achieve. Let’s just hope everything continues to go well.

Due date:

I calculated my due date as 20^th November 2011 (taking egg collection as being two weeks pregnant). According to my scan, which bases it on the size of the fetus, I was 6 weeks and 5 days pregnant yesterday. That would also make my due date 20^th November, there can be sometimes be a bit of discrepancy between the two different ways of calculating the due date.

Other news from yesterday:

Dexter came with us to London and had his first trip on the Tube (the London underground). Going on the Tube with a pram and a two year old is not recommended. Also I had to stand up for ages. I was thinking when I was looking at all the people sat on the seats, if they knew I was pregnant and I had muscular dystrophy I bet most of them would offer me their seats. I don’t look like either of those things are true, so I had to stand up for half an hour crammed in like a sardine. I don’t know if it is because pregnancy is making me so tired but my feet were especially floppy yesterday and my neck was especially weak so it was a struggle.

It is a good job Steve is strong as he had to carry the pram and all the bags to the top of the many flights of steps (the Tube only has lifts at some stations) then come back to carry Dexter who I was with at the bottom of the steps. Dexter can walk upstairs himself, but no amont of persuading would get him to walk on this occasion so he had to be carried!

I don’t know how people with disabilities cope on the Tube. Depending on the disability, I think many must have to avoid using it, or only use certain stations.

We went to the National history museum as Dexter is now into dinosaurs. He absolutely loved it! It was a long but very good day.

Further information:

Here is a calculator for working out your due date after IVF.

http://www.ivf.ca/duedate.php

Crampy feelings

2011-03-28T14:53:00.000-07:00

Congratulations flowers from our friends Craig and Nicola

Funny feelings

Even during the 2 week wait, I thought I felt goings on, in my uterus. They were so mild, I didn’t mention them to Steve or write about them on my blog, as I thought I might be imagining them. I tend to feel it when I pull myself up to a standing position for example. Sometimes they are on the left and sometimes on the right. They seem to be getting a bit stronger, though maybe less frequent.

Today I had a really big crampy feeling on the right. It scared me, in case it was something going wrong. Now a few hours later, I am less worried about it. If they have been happening since the two week wait, surely if it meant something bad was going to happen, it would have happened by now. I don't remember these sorts of feelings when pregnant with Dexter, but every pregnancy is different.

Worrying

On the whole I would say at the start of this pregnancy, I am more relaxed then I was, when I was pregnant with Dexter. Perhaps because I have already had one successful pregnancy, I know that my body is capable of carrying a baby to full term. With Dexter it took me a long time before I allowed myself to think that a baby was coming, but this time Steve and I do start sentences with "when the new baby's here..."

I do have the occasional spot of anxiety though. The other day I did the other pregnancy test (they come in a two pack). I was worried that my nosebleeds had stopped, my boobs didn’t feel as tender and maybe the projesterone injections would mean I wouldn’t know if anything had gone wrong, until the day of the scan. I was being silly, but it made me feel better that the test had a strong line on it. I will be glad when I have seen a heartbeat on scan day.

Poor Steve is pretty busy

Steve has been doing all the laundry, most of the bathing and putting Dexter to bed. He has just got to the point where he is getting really tired of it, so I was a bit more help tonight. I know I’m being mean, but I can’t help but laugh, when I hear him complaining. It’s a good opportunity for him to see how much laundry gets created in this house and how long it takes to do. It’s payback for all the IVF appointments I have had to go to. He has a few weeks of working, cooking, shopping, laundry. He isn’t very good at it, the fridge has been bare for ages now! It is very kind of him to do it though and provides me with entertainment as well as some extra rest. It is pretty tiring being pregnant.

Steve works very long hours at his work, so we probably will start to get back into our usual routine soon. I will start doing the housework again from now on, I think.

I am still avoiding picking up Dexter, as he is very heavy. I have taught him to climb into his car seat so I don’t have to lift him in. He is at an age now where I don't have to pick him up very often, I just sit on the floor to play with him and give him hugs.

Steve is exhausted. Ha ha! He isn’t allowed to moan either, as then I tell him how tiring it is growing a baby. Poor old Steve. He is now sewing a button on his shirt and he has a pile of shirts to iron (not that I ever sew or iron, they have always been Steve’s jobs).

Blogging dilema

2011-03-24T13:59:00.000-07:00

When I started this blog, I knew nothing about blogging and had only read a couple of business blogs. I started my blog as a way of raising awareness of both pre-implantation genetic diagnosis (PGD) and Myotonic dystrophy. The original plan was just to write about one cycle in a lot of detail, then it would stay there as a permanent record for people to find and read if they are interested. (Though of course, treatments are constantly improving, so it will have a limited time of being up to date and relevant.)

If I let this blog become a pregnancy journal, the people I want it to help (those who are thinking of starting a family using PGD) may not like to read it. When you are doing infertility treatment, (whether or not you are actually infertile), the last thing you want to read about are other people’s pregnancies, and other people’s happy lives with their children. It’s not about being bitter, it is just that you are dealing with your own issues and that can be hard enough, without constant reminders of what you haven’t got and may never have.

Now I know a bit more about blogging, I realise if I just finish it now, or start a new blog, then “A pgd blog” will probably not stay high in the search engine rankings. That would be a shame as fewer people would find it. I also don’t want to stop writing it as I have enjoyed being a blogger, some might say I’m a bit addicted. Plus, I have some loyal followers who may want to hear how the pregnancy goes.

My blog also remains a good opportunity to write about living with Myotonic dystrophy, which helps raise awareness. I hadn’t realised before I started, how handy it is that I am telling my friends all about my Myotonic symptoms. They now will understand why I sometimes slur my words, trip over a lot, let my head hang down or am constantly yawning. Before they might have just thought, I was a bit clumsy and rude (it could be seen as rude to keep yawning when people are speaking to you!)

After a lot of thought, I think I am going to continue this same blog as a pregnancy journal (assuming it all goes well and I don’t end up back in the infertility world). When I have a bit of time, I will make a page, which lists the key IVF with PGD posts. This means that people finding it can ignore the new posts if they want, but they can go back and follow one cycle through from start to finish.

What do my readers think of that idea? Does anyone have any other suggestions for how to solve this dilemma? Am I right in thinking blogs need to be active, with lots of comments for them to stay high in the search engine rankings?

Couple of things to mention

After knowing of hardly any blogs written by people with Myotonic dystrophy, the other day I found two more!

One is written by KDBaker05. She has Myotonic dystrophy, though her blog is about fitness as that is her passion.

Here is the second blog wich I found. The lady who writes this has a son with congenital myotonic dystrophy.

I also wanted to point out another really sad comment that I had. It is on this post and is by Ange, who probably has Myotonic dystrophy. She lost her baby, Karl, whilst he was still tiny. I really can't imagine how any parent must feel in that situation. I know she is not the only grieving parent who reads my blog as I have had other similar comments. Thanks for commenting Ange and sharing your story.

No news is good news

2011-03-22T05:56:00.000-07:00

So there is no news in terms of my pregnancy. I know it has only been a few days but certainly in these circumstances no news is good news!

I stayed on the Clexane in the end. I nearly didn’t call the hospital, as the phone line was shut (it was the weekend) and I was worried it wouldn’t be seen as an appropriate use of the on call mobile number, which is supposed to be for emergencies.

In the end I decided, I can’t stay on the medication without checking, when I have been told not to, but I would never forgive myself if I came off it and then something went wrong with the pregnancy. Even if it was unrelated, I would never know and would be mad at myself for not calling. It’s not as if I could wait to call on the Monday morning as by then I would have missed two doses.

I managed to speak to Joy, who is the nurse I see the most. She said it was fine for me to stay on the clexane seeing as my nosebleeds are getting better.

The nosebleeds are certainly improving! They have gone from three a day down to one a day and only last about ten minutes now.

No new pregnancy symptoms have arrived. I’m still really tired, with tender boobs. Perhaps I’m a bit early to start feeling sick. Hopefully, I’ll have an easy pregnancy like I did with Dexter!

I have had a lot of hits on my blog in the last few days and I think it is partly because of a mention in this post by Stirrup Queen. Thanks for the mention! Hello, to any new people who have found my blog recently.

HCG Beta blood test

2011-03-18T08:19:00.000-07:00

We have just been down to London to have a HCG Beta blood test. This will confirm the pregnancy. I will get a call later to say what the levels are. Apparently, anything above 100 is acceptable this early in the pregnancy, but the range is huge so it could be thousands. I am told the level can’t be used as a way of knowing whether there is a multiple pregnancy or not. I will have a scan in about two weeks, where we will be able to see how many embryos managed to implant.

I also asked about my nosebleeds and my doctor said seeing as everything is going well, he is nervous to change anything, so probably I will stay on the Clexane. The clexane that I am injecting, is a very small dose so he didn’t think it was very likely that it is causing the nosebleeds. I had a second blood test done however. This will be a full blood count and coagulation blood test. I think they are interested in the level of platelets in the blood as Clexane can reduce them sometimes.

I certainly prefer to put up with the nosebleeds, rather than do anything even slightly risky to the pregnancy. Also, it is still only two days since I gave up the aspirin so we need to give that a chance to kick in.

I’ll add to this post when I get my beta result.

Update with test results

My beta is 847, and on the phone I was told anything over 200 is good (slightly different to what I was told at the hospital). This result is for day 15 after a 4 day embryo transfer. I have no benchmark as last time when I was pregnant with Dexter, I don't think I asked the number, but if the hospital say that is fine then I am happy.

My projesterone is 293, and we would want it to be over 100 so I am also happy with that.

The doctor was apparently also happy with my platelets, the number for that is 414. (This test was done because of my nosebleeds). I don't know what any of the units are that these results are measured in, and I forgot to ask. Sorry, that might have been important to some of my readers, in case they are measured differently in different countries.

The only thing that worries me a little bit is that they have said I should come off the clexane. I don't want to do that especially as my nosebleeds are getting a bit better. I am still having about three a day but yesterday two of them were so small they barely warranted being called a nosebleed. I did also have one heavy one that lasted twenty minutes, but hopefully I am passed the hour long ones now. Perhaps they are improving, because I am off the aspirin.

I am going to call the hospital and ask them if they will let me stay on the Clexane for a few more days, so we can see if they continue to get better.

So in summary, I think these results are good. I have no idea if they are really good, or just ok as I don't have any benchmarks.

Another update

Just been doing a bit of research on beta levels and what they mean. One thing that is obvious from looking on the internet is that lots of recently pregnant women try and use them to decide whether or not they are having twins. It seems you have higher beta levels if it is a multiple pregnancy but as the range is so large, and there is so much overlap between the two groups, it clearly isn't a reliable way of telling. I'll have to wait for the scan in two weeks for that.

It seems from reading blogs that it is more usual to monitor HCG levels in other countries such as America. I don't think I will have any more blood tests to measure it.

Everything that I have read, agrees with what the hospital have told me, that my levels are perfectly normal.

Further information:
This website uses days past the HCG trigger injection, to show the results (my test results would therefore be at 21 days).

http://www.advancedfertility.com/earlypre.htm

Here is a calculator that looks pretty handy if you have more than one result.

http://www.babymed.com/tools/hcg-calculator

We're having a baby!

2011-03-17T07:37:00.000-07:00

We just did a positive pregnancy test! I know there is a long way to go, but we are still going to celebrate. We are going to take Dexter out for tea when he wakes up from his nap and then Steve is off to the pub with one of his friends. I will have an early night, which is what I have been doing for most of the last week!

There will be no more moaning about nosebleeds, tiredness or painful boobs! No more complaining about all the hospital appointments. It has all been worth it.

I have booked an appointment at CRGH, to confirm I’m pregnant. It’s a beta HCG test. I need to pick up more medication too as I’m running out.

It is such a big relief. I couldn't face the thought of any more fertility treatment, nor was I really ready to give up on getting a sibling for Dexter.

Night before pregnancy test day

2011-03-16T16:03:00.000-07:00

I don't think I have ever had an in vitro fertilisation (IVF) cycle where I have felt this rough by the end of the two week wait. It is the nosebleeds that are the biggest problem. I have had three more today, the first two were small ones so I thought maybe the aspirin was wearing off, however the third one was a really bad one again. I called Steve to come home, as I was choking. The holding your nose thing, just seems to send the blood down your throat and out of your mouth. It was really awful.

I have a really red sore nose, like you get when you have a cold, except I haven't got a cold. It is sore from all the blood. I have got through two T shirts and a cardigan, there was blood on the sofa and all over the kitchen. They seem to start when I am doing things, one was from tidying up, another was just from folding a blanket up. My nose is completely blocked, but I can't blow it because more blood will come. I can only eat small bites because I can't breathe through my nose. I can't even speak properly, because I have to keep stopping to breathe. I know I am being a complete moaner but it really is horrible. I have never known nosebleeds like them.

Other than that I feel ok. Sometimes, I am optimistic about tomorrow, other times I feel quite negative. I am glad I haven't had two weeks of feeling nothing, like I did on cycle 5. There have been small signs that might mean I am pregnant, I just know that the hormones could well be the cause.

A new symptom that I have noticed in the last few days are the state of my boobs. They are noticeably bigger and a bit tender. Again this happens because of projesterone, some women even have this happen at certain times of their monthly cycle. I can't remember ever noticing this in the two week wait of any previous IVF cycles (including the successful cycle three). I know I am full of projesterone (as Steve injects it in my backside!) but it does make me wonder if something else is raising my projesterone too, like a little embryo which has managed to hang on. I hope so, but daren't get my hopes up too much.

Pregnancy test is going to be in the afternoon as Steve has to go to a meeting in the morning and the TV guys aren't around until the afternoon either. It will be a nerve wracking morning.

A few things to mention.

Did you notice that on this post Beth (Casper's mum from the today Show) got in touch via the comments? She emailed me too, which I was very pleased about. Isn't the internet great for being able to get in touch with people. Good luck Beth and Ollie with your upcoming PGD.

I also have been meaning to post this link for a while. It is a blog post by Kate Bentley called Songs for my unborn children. I found it very moving.

I am also considering applying to be on the committee of the myotonic dystrophy support group(MDSG). I have always wanted to do so, but never have as it is a big commitment and I have been so busy. Hopefully now that the pre-implantation genetic diagnosis (PGD) is over with, I will have a bit more free time. It is a really nice thought that I won't be doing any more IVF with PGD. Let's hope we finish it off with a longed for pregnancy.

Access to work

I also had a physiotherapist come to my house today, to measure me up for a chair with a headrest, which I need for work because of my weak neck. I got her via a scheme called 'access to work' which means it was free for that assessment. I do however have to pay for the chair and any other equipment as with the recent cuts they have stopped paying for what they call 'standard equipment'.

I don't think that it is right that I have to pay myself, as this chair will help keep me in work and off benefits so should be seen as an investment. The chair will cost between £400 and £700, so it is very expensive. Some people wouldn't be able to afford to buy one, so wouldn't bother. They then will get long term problems from sitting badly, and end up unable to work and therefore on benefits earlier. It doesn't seem like a good idea to make cuts to these services, I think it is a false economy. I might write a more detailed post about this appointment later.

Dexter's second birthday

2011-03-16T15:10:00.000-07:00

Blowing out his candles - Thomas cake was made by Sue, Dexter's Granny (Click photo for her website)

Birthday lunch with his friends at the play centre

Dexter and his Granny (Steve's mum, Sue)

Dexter and his Mum

Dexter and his Grandad (Steve's step-dad, Tony)

Steve, Dexter and Shona

Steve and Dexter opening presents in the morning

A birthday meal so the adults could eat after the play centre

Dexter in his new chair also made by his Granny - she is very talented

Nosebleeds

2011-03-15T13:52:00.000-07:00

Warning don’t read if you are squeamish, lots of blood...

Since writing my last post I have had two more nose bleeds. They seem to be getting worse each time as well. They were both at work, yesterday's took half an hour to stop and today’s took an hour!

It was quite funny actually, as today’s nosebleed started when I was on the toilet. I stupidly blew my nose (purposely did it gently though). For about five minutes, I was in the toilets trying to stop it on my own, but it was coming so fast I was starting to choke and splutter, then I started feeling faint. I thought about what would happen if I fainted, I would probably choke to death on the floor, no one would know until it was too late. I was being over dramatic in my head, but still it panicked me enough that I decided to go back into the office. I couldn’t even manage to do my trousers up properly, given the circumstances. I must have looked a state!

Anyway, the first aiders and Jonathon kept me calm and in a stock of tissues. Poor Jane, had to go and clean all the blood off the toilet, as I was worried someone would go in and see it before I had chance to clean it, and I clearly wasn’t able to do it myself. It was a whole hour later when the bleeding finally stopped and at least half an hour after that, before anyone would let me stand up or move around. Jaya went and got me some soup from the canteen and Sandrine gave me some of her lunch. (They didn’t want me walking about.) Liz phoned me up after I had got home to check I was ok. Liz was in a meeting when the drama was going on. My work colleagues really did look after me. I must have looked a spectacle. My nose still feels a bit dodgy even now about 8 hours later.

My work friends have given me strict instructions: no nose blowing, nose picking, sneezing or bending over. I bent over to the bin and that started it going again, hence the no bending over rule.

After yesterday’s nosebleed, I called my IVF clinic, CRGH, just in case it was something to do with the medication. The receptionist said she had never had a call about nosebleeds before, but she would get a nurse to call me back. After speaking with the doctor, one of the nurses, Joy, told me to stop taking the aspirin but to stay on the Clexane. Unfortunately, I had already taken that day’s aspirin so today is the first one I have missed. I expect it must take a little while to get out of your system.

As well as having nosebleeds, I have been feeling so tired. I am not sleeping well, I woke up at 04:00 again this morning (if any of my readers are following me on Twitter you may have noticed some ridiculously early tweets.) I will be glad when this two week wait is over and I can either be pregnant and then I won’t mind feeling rough, or I can at least get off the medication and put IVF and PGD behind me.

This is a bit of a moaning post, sorry about that! Two week waits are pretty torturous, I think I'm allowed a bit of a moan. We are so close to the end now, just a few more days to go.

Symptoms in the two week wait

2011-03-14T05:10:00.000-07:00

Day eleven after embryo transfer

It is now eleven days after my embryo transfer. On this day, on cycle three I did a pregnancy test with a sensitive test, and it had a really faint second line. It is therefore tempting to do one, but I am not going to until day 14 (two days before my hospital recommend, but day 14 is what some other hospitals say). I have to be restrained because the TV cameras are coming for the test, and I can't act. I would spoil their documentary, if I already had done it before they got here.

Symptoms

Many people have been asking me how I'm feeling, and if I have been getting any symptoms that might mean I am pregnant.

I think it is pretty much impossible not to analyse every twinge and potential pregnancy symptom. When you have suffered from fertility problems for years, you are often quite in tune with your body and sometimes you can tell if you feel a bit different. It is dangerous to pay too much attention to changes in your body however, as you may gets your hopes up and then get them dashed. That doesn't stop me or most other IVFers (according to other blogs I read) watching out for symptoms. Another thing IVFers ought to be aware of, is that the medication can give you symptoms, which could easily be mistaken for pregnancy symptoms.

Lots of symptoms that you get from pregnancy are because of the hormones. Whether or not I am pregnant, I do know that my projesterone and oestogen are higher than normal, because of the medication I am on. This could lead to me getting over excited about changes that I notice.

I have had a couple of cycles where I felt absolutely nothing. E.g. cycle 5. On cycle three, when I became pregnant with Dexter, I felt nothing most of the time, but felt really sick for one night (day 7 after embryo transfer).
Having given all the downsides of over analysis of symptoms, I will now tell you what changes I have noticed. I am only human after all.

The first two to three days after the embryos were transferred, I noticed that I was feeling queasy and had quite a few tiny little crampy feelings in my uterus. The feeling queasy must either be coincidence or perhaps something to do with the HCG trigger injection. I am sure I wouldn't be feeling sick because of pregnancy, at that early stage before the embryo has even had time to implant. I was however pleased that the cramps meant it seemed like something was going on. It makes me think that at least one of the embryos carried on growing and was still doing something three days after embryo transfer. That might mean one of them made it to blastocyst.

Since then I haven't had the crampy feelings. Steve however has been getting hopeful, as I keep being really tired and laying on the sofa, almost falling asleep in the middle of the day. Daytime tiredness is a symptom of Myotonic dystrophy with which I do suffer, but it is true, I have been more tired than normal. Of course, there could be another explanation, I haven't been sleeping that well and we have had a busy few months, so perhaps it is all catching up with me.

Finally, yesterday I had a really bad nosebleed (not normal for me). It was a bad one, the expression Steve used, as he ran to get me tissues was "it's pouring!". Obviously, afterwards I had to google early pregnancy and nosebleeds. It seems they are more likely in pregnancy, however on the website I was looking at, it talked about pregnancy hormones and of course my medication means I am full of projesterone and oestrogen. Perhaps the medication is therefore the cause. It did cross my mind that the blood thinning drugs like clexane and aspirin might have something to do with it. If I start to have more, I'll call the hospital. I won't call them yet, seeing as it is probably a one off though.

Of those small things the only one that gives me some hope is that I was feeling things going on in my uterus three days after transfer. The rest I think don't mean anything. Lets hope if one was still growing, that it managed to grab on and is now starting to turn into a fetus.

An interesting radio discussion

2011-03-12T01:53:00.000-08:00

A very interesting radio discussion has just been highlighted to me in a comment by Cattiz J on this post. Cattiz has a blog called Colours of Cattiz where she is writing about her infertility journey. They are about to start IVF.

The radio discussion is about a new technique which isn’t yet legal in the UK but has the potential to be a great breakthrough into helping people who risk passing on mitochondrial diseases to their children. Prof. Alison Murdoch from the Institute of genetic medicine at Newcastle university is on the show.

There is also a lady called Beth Wilkes, who bravely speaks about her son Casper Wilkes. Casper sadly died as a baby because of a mitochondrial condition. This new technique could have the potential to help her family, but for now, as it isn’t legal, she and her husband are embarking on pre-implantation genetic diagnosis (PGD).

I am a regular listener to the Today show but I missed this, so thanks for bringing it to my attention Cattiz.

Here is the radio discussion, it will bring a tear to your eye. I believe it will only be on iplayer for a short time and I think people who aren’t in the UK may not be able to hear it unfortunately. It starts at 2:18.26 and lasts about 10 minutes.

http://www.bbc.co.uk/iplayer/episode/b00z6552/Today_11_03_2011/

Beth Wilkes has a website in memory of her son Casper Wilkes. It seems to be down at the time of writing this post but I am going to post a link anyway in case it gets fixed.

http://www.casperwilkes.com/

I don’t know how to get hold of Beth, but just in case she googles her name one day and finds this blog, I’d like to say Beth you are welcome to write a guest post for my blog either about Casper, your story, the new technique (which I don’t know the name of) or about your PGD journey. Alison Murdoch you or someone in your team are also welcome to write a post. It all helps raise awareness, which helps other people in similar positions.

You will notice that on the radio show, the term ‘designer babies’ is used. I dislike this phrase as it implies parents use PGD to get a perfect baby. It is a phrase coined by the media and is very unhelpful. Many people who do PGD just want a baby who has a reasonable chance of survival. Dexter is not a designer baby, he is a little boy who has the same chance as any other child of developing a whole raft of illnesses and medical conditions. PGD has just meant that he hasn’t got Myotonic dystrophy. We are very grateful that PGD was an option that was open to us, when we decided to start a family.

Further information:

Muscular dystrophy campaign article on the subject
BBC article

Myotonic dystrophy in the family twice

2011-03-11T11:53:00.001-08:00

Since I started writing my blog I have had a few really lovely emails saying thanks for writing it. A couple of days ago though, I was especially pleased to get a facebook message from a relative in Australia. Her name is Sandra and by a remarkable coincidence she has got Myotonic dystrophy. “Why is it a coincidence?” you might wonder. Myotonic dystrophy is genetic after all! Well the reason it is so strange, is that Sandra and I aren’t even related by blood. Her partner Rodney is Steve’s cousin.

I have never met Sandra or Rodney, though I met Auntie Ann (Rodney’s mum) when she was in England a few years ago. We were telling her about the pre-implantation genetic diagnosis (PGD) as I think we were doing it at the time. Dexter hadn’t been born. At the time she didn’t know that just a couple of years later, her son would be in the exact same position as Steve.

Muscular dystrophy is rare enough, to have that enter a family twice would be unusual. But for us to have the exact same type of muscular dystrophy is really quite amazing! And on top of that, Sandra and I are both almost the same age, both got diagnosed within a few years of each other, both are trying to have a baby and now both are doing IVF with PGD. Quite remarkable.

Does any one else have any strange coincidences like that in their family? If so leave a comment and tell us about it.

Sandra said she didn’t mind if I posted her message. It was so nice to get it. Just this one message would have been enough to make me glad I started my blog, never mind the others I have as well! Below is her facebook message:

Hi Shona,

Congratulations for your successes so far with the pgd, We hope things continue to go well.

I thought I'd just let you know we've had some great news. After reading your blog Rodney tried doing a search for pgd and found a assistance program here in Australia. The applications for the program closed the end of January, which only gave us a couple of weeks to get everything together (letter from specialist,GP and last years tax). We quickly gathered what we needed and sent it off, with little real hope of being successful this time but hopeful for later in the year possibly the next intake or two. Then last Friday the clinic rang with the news that we had been accepted for a fully funded position in the pgd program. It's all moving very fast with our first appointment a week from today(Tuesday). I'll try to keep you informed or our progress.

Rodney has already started complaining about all the driving with three trips to Sydney(5 hours drive each way) in the first eight days, but I know he doesn't really mind the trips to Sydney too much. And a few trips to Sydney will seem like a cheap price to pay if everything goes well in the end.

Now, I'd really like to thank you, and thank you a lot. If we hadn't read your blog and written to you, we'd not have looked for a assistance program and would have continued struggling to find what to do and as I'm now 34, the clock was ticking. Thank you again for our chance for a child\Children.

Best wishes,
Sandra

Embryo transfer for IVF

2011-03-08T00:18:00.000-08:00

In a previous post I explained what blastocyst transfer was and how in some patients, it can sometimes be beneficial to wait until day 5 (or 6) after egg collection before transferring the embryos. This can enable better selection of the embryos.

We were therefore expecting go to CRGH for embryo transfer on Friday, though understood there was a chance it may be Thursday. Because on Thursday, we only had two embryos that didn’t have the abnormal Myotonic dystrophy gene there was no point in waiting an extra day. It was far better to get the embryos back in their natural environment as soon as possible.

So after receiving our call from CRGH on Thursday Steve dropped everything and rushed home from work. We made it to CRGH by 16:00. Steve parked the car, whilst I went to the ward. At 14:00, we had stopped at a service station, so I could use a pessary called Voltarol. You hear it called Voltarol all the time at the hospital but on the packet it says Diclofenac. It can be quite confusing actually, when the medication has numerous different names (although you do get given an information sheet about all the different drugs and their names at the beginning of the cycle.)

The voltarol pessary is used rectally two hours before embryo transfer and apparently it may help prevent uterine contractions. You certainly want to avoid cramping when the embryo has only just been transferred.

The absolute worst thing about embryo transfer, in my opinion, is that you have to have a full bladder. I therefore, had a two litre bottle of water in the car with me and started drinking it about an hour and a half before we expected to arrive at the clinic. By the time we got there, I was ready to start (the fullness of my bladder is checked by the nurse with a scanner on my tummy, before they get the doctor). There have been many times in the past, when I have held up embryo transfer because my bladder wasn’t full enough. There have also been times when it has been too full and I have had to empty it a little bit (try doing that after you have had a baby!) I was told if my bladder was too full then I risk getting cramps.

Steve is allowed in the theatre (unlike with egg collection) so has on a hospital gown too. I get on the bed in my usual position. The nurse uses the scanner on my abdomen, so that the doctor can see my uterus on the screen. This is very uncomfortable when you have a full bladder. A speculum is used and a catheter is inserted through the cervix and into the uterus. The embryologist brings the embryos over in a long flexible plastic tube (probably also called a catheter). They get transferred to my uterus and then before the speculum and catheter are removed from me, the flexible tube is checked to make sure neither of the embryos are stuck to the edge of it. Once the all clear has been given from the embryologist, the speculum and catheter can be removed and I have to lay still on the bed for twenty minutes.

This last twenty minutes are horrible! Steve is now trained. He has to talk to me to distract me, but he’s not allowed to say anything funny as laughing and full bladders don’t go well together. In the past, I have even resorted to doing complicated maths calculations in my head. Anything to take my mind off how much I need the toilet.

Once the twenty minutes are over, we can leave. Steve gets the car and meets me at the front of the hospital so I don’t have to walk far and we set off back up the motorway.

On this occasion we stopped at a pub near Watford and had a meal. We considered popping in on cousin Jen but decided, getting home and resting was the priority. It was actually almost 10:00pm by the time we got back and relieved my mum who was babysitting.

After the embryo transfer

I had another voltarol pessary 6 hours after embryo transfer.

It’s important to rest as much as possible for the next few days, as this is thought to aid the implantation process. I am lucky and have managed to make is so I get five full days off work by moving my working days around. I won’t do much work in the second week either.

According to the advice I got from the hospital, after the first two to three days of resting you can return to normal activities but should avoid excessive physical exercise, flying, swimming or sex until after the pregnancy test.

I believe that different hospitals have slightly different advice on what to do or not do after in vitro fertilisation (IVF). For example lots of people travel abroad for treatment, so they might have to ignore the no flying rule if they want to come home. I suppose it is necessary to weigh up the risks against the benefits.

Medication

I am still taking the projesterone injections, clexane injections, aspirin, progynova and multivitamins with folic acid. I will continue with all of this medication until the pregnancy test at least (unless I get told otherwise – has happened before when I had some ovarian hyper stimulation syndrome symptoms). If my pregnancy test is positive, I will continue on the medication for much of the first trimester, to help sustain the pregnancy.

Further Information:

Blastocyst transfer - CRGH web page

Embryo transfer

Final embryo update

2011-03-05T06:52:00.000-08:00

Yesterday afternoon's embryo update

Yesterday (day 5 after egg collection) I had a call to say of the two day 4 morulas (our best two embryos that had got Myotonic dystrophy), one had become a blastocyst and one was still a morula. The day four 10 celler, which had an inconclusive PGD result had progressed to morula.

Today's embryo update

The other day four morula has also progressed to blastocyst (albeit a day late).

The one which we were hoping may be able to be retested however, hasn't progressed any further than morula and so won't be retested and frozen. I never held out much hope for that one, but I am pleased that both the ones which were morulas have progressed to blastocyst. Maybe that bodes well for the ones in my womb, which were only a little bit behind them.

I have been resting today and yesterday. I am being extra careful not to pick Dexter up, so my mum is helping me look after him (as Steve is working).

At home with our two little embryos

2011-03-04T05:27:00.000-08:00

Two pre-morulas on day 4

Here are our two embryos. They are pre-morulas on day four, which means they are slightly behind schedule but not very much. Ideally an embryo would be a morula on day 4 and then a blastocyst on day 5.

The stages of our embryos

Before the transfer yesterday, the embryologist Suzanne went through the status of our embryos. Our best two had made it to morula, which is the stage at which we would have expected them to be. They both had got the abnormal Myotonic dystrophy gene so couldn’t be used.

Our next best two were both pre-morulas, which means they were starting to compact and all being well would soon become a morula. They were the ones that were transferred and they are ones in the picture above.

Our fifth best embryo was only 10 cells big and was the embryo that had the inconclusive result. I am told if it makes it to blastocyst then they will biopsy it again and then freeze it. The biopsied cells can then be tested again by the pre-implantation genetic diagnosis (PGD) team. I don’t hold out much hope for this one making it to blastocyst. We have only ever had one embryo make it to the freezer and this one has already shown it is a slow grower. I was told we wouldn’t hear whether it had become a blastocyst until Saturday (which would make it a day 6 blastocyst, they have lower success rates than day 5 blastocysts).

The other two embryos weren’t really doing much, they had both only added a cell each since the biopsy and so probably weren’t going to do much more. They both had the abnormal Myotonic dystrophy gene.

My feelings on the results

I was very upset when I got the phone call to say we only had two embryos and I was being really miserable and negative in the car on the way down to the hospital. I had to hold some of my negativity inside, as poor Steve was still trying to be hopeful and I think I was bringing him down.

When I spoke to the embryologist, she however seemed quite happy with the embryos. She reminded me that they had had two cells taken out of them so that can sometimes slow down their growth a little bit, and they were very close to being morulas.

I got a bit upset when she was telling me, as I have had lots of embryos transferred that are ‘nearly’ at the right stage and they never make me pregnant. I wanted one that was perfect.

When I saw Mr. Serhal, he was really pleased that I had got two to transfer. He asked if I was pleased and seemed surprised when I said I was upset. His surprise made me feel a bit better actually.

I was looking at it from the perspective of someone who had already had 10 embryos transferred, eight of which were ‘nearly’ at the correct stage and two of which were ‘ideal’. The only one that made me pregnant was one of the ones that was doing exactly what it was supposed to. I also know that none of my spare embryos ever make it to the freezer as they stop growing before the blastocyst stage. This suggests to me, that the non blastocyst embryos, which I have had transferred for previous cycles, also stopped growing in the womb before they got to blastocyst. Of course I will never know that for sure.

I think people at the hospital, such as Mr. Serhal see many different patients and so are looking at the situation from a much broader perspective. They will often see ladies who end up with nothing to transfer after the biopsy. Thankfully, I have never been in that position, and I am very grateful for that. They also probably see people getting pregnant quite often, from embryos that are slow growers. So if you are looking at it from that more general perspective, it is great that I had two to transfer and that they are still growing and are almost at the right stage.

From my narrow perspective though, I was never worried about ending up with nothing to transfer, my worry was that we wouldn’t get a blastocyst. I feel like it has to be a blastocyst to work for us.

Positivity

On a more positive note there are quite a few things that I have thought of that have made me feel better.

This is the first time we have had the endometrial biopsy the previous month, so that might help.
These embryos have come from a menopur cycle, like Dexter did. My failed IVF where I had a blastocyst transfer was from a Gonal F and Menopur cycle. I like that these embryos have more in common with the successful cycle 3 than the failed cycle 4.
Because we only had two, we had them transferred to my uterus a day earlier than usual. This might give them a better chance to grow, compared to the ones in the laboratory as it is a more natural environment.
They were both the ‘excellent’ grade on day 3. (I don’t think they get graded as pre-morulas, if they make it to blastocyst then a new grading system starts to be used).
Suzanne pointed out that the day previously they had only had five cells, (they had seven but two were removed for the biopsy) and by making it to pre-morula they had tripled in size in a day. She said that was really good growth and I felt a lot better when she said that.

Mr. Serhal pointed out that there is the risk of getting twins when you have two embryos transferred. Multiple pregnancies are much higher risk and so shouldn’t be seen as a positive thing. He also said at CRGH they are so confident of their success rates nowadays, that they don’t like to transfer two embryos, but in my case they are taking a calculated risk because of my history. Although nobody actually said it, the quality and size of the embryos will have something to do with the decision too.

Overall, I was feeling a lot better on the way home from the hospital than I was on the way in. On the way there, I felt like this cycle was over. Now I feel like there is a chance I will get pregnant, even if it isn’t a very high one.

I will write a post about the embryo transfer procedure shortly, so that people who are soon to be having one done can read about what it is like.

Further information:

Pictures of embryos at the different stages

Bad news - PGD results

2011-03-03T03:51:00.000-08:00

Just received our daily phone call. Of the seven embryos, two are unaffected, four are affected and one got no result.

That is really bad news.

Only two out of seven that are usable. I am really upset.

The lady who called me didn’t have full details, she had just been given the results over the phone from the pre-implantation genetic diagnosis (PGD) team (full report is to follow). Because there are only two, we get no choice over which we use so may as well transfer them at the earliest opportunity. Normally there may be some benefit of waiting, to help decide which ones seem to be growing the best.

It takes a few hours to get ourselves to the hospital, so CRGH called us as soon as possible, so that we didn’t miss the opportunity to have them transferred today.

I have called Steve and he is on his way home from work. Luckily, I didn’t go to work today, so I am at home with Dexter. We will take Dexter to nursery for the afternoon, (he was due to go anyway, but I kept him off, so I know there is a place for him). Babysitters are organised to pick him up from nursery.

I just have to eat, drink ridiculous amounts of water (will explain in a later post) and remember to take my medication with me.

This is a rushed post, but I know people are waiting to hear the news, so wanted to write something before I go.

Update:

Since writing the above, I received another call saying that the two that are unaffected were both at the seven cell stage yesterday.

That means we have lost our three best embryos. Sometimes we are so unlucky.

They are pre-morulas now. I am feeling very sad. I don’t get pregnant easily, so wanted to have a few embryos to choose from. It’s really not fair that we lose so many in one go.

I must go now as Steve will be back from work soon and Dexter is asking me to play with him. At least I have Dexter. Even if this IVF doesn’t work, we will still have him so we are luckier than lots of people who are struggling to have one baby.

Day three after egg collection

2011-03-02T10:35:00.000-08:00

At 11:00 this morning I got a call from CRGH. All seven embryos are still developing at normal speed.

One is six cells big.

Three are seven cells big.

Two are eight cells big.

And one is nine cells big.

Six to nine cells is apparently normal for this stage, so they are doing fine. They are also still all in the top two quality grades.

Two cells have been taking from each embryo, and are being handed over to the pre-implantation genetic diagnosis (PGD) team so that they can test for the abnormal Myotonic dystrophy gene.

For those of you who haven't seen it, this page in my blog has a video of two cells being sucked off an embryo. It’s really quite unbelievable that this can take place, without the embryo being damaged.

Tomorrow, I will get a call to say how many embryos haven’t inherited the abnormal gene and how many are still growing after the biopsy. We have had an inconclusive result before, but we have never had any embryos that stopped growing after the biopsy.

Soon we'll be able to have some transferred, if we have some luck on our side.

Day two of embryo growth

2011-03-01T13:18:00.000-08:00

At 10:00 today we got the call from CRGH with our embryo status. At this stage (two days after egg collection), you would expect the embryos to be 2 to 4 cells big.

Our seven embryos

At the time of the call we had four embryos that were four cells big, two that were five cells big and one that was six cells big.

That is really excellent news!

And to add to the good news, five of them are grade 1- which is excellent and the other two are 2+ which is still good. I don’t know much about how the grading system but all of them being excellent or good is certainly positive news.

A word of caution

On cycle four, we also had really good news in the early stages. The day before embryo transfer, we had four embryos that were unaffected with Myotonic dystrophy and were almost blastocysts. We were sure that we would have two blastocysts to transfer the next day, but it wasn’t to be. Only one made it to blastocyst and I didn’t get pregnant from it.

Not trying to be a pessimist, but we have learnt that at this stage, you have to try not to be too upset about the bad news or too excited about the good news. It can all change in a heartbeat and often does.

Still, it was certainly good to get that phone call this morning. Seven good growers! Just what we hoped for. Come on little embryos!

My medication

Since the egg collection I have been on a lot of medication, so here’s an update. The antibiotics are finished, but I am now taking:

Clexane injections 1x a day (thins the blood)

Prontogest injections 1x a day (projesterone)

Progynova pills 3x a day (oestrogen)

Aspirin 75mg 1x a day

Multivitamins with folic acid 1x a day

I may come back to this post later and write a bit about what the different medications do. I’m a bit too tired now.   I’m tired, but happy our embryos are doing well. They might be bigger now! Half a day has passed since we received that last phone call. I’ll get another update tomorrow and then they will be getting sent to the lab for the pre-implantation genetic diagnosis (PGD).

Later addition to this post to explain what all the medication is for.

Clexane injections.
These thin the blood so cause bruises. My tummy is covered in bruises from where I have been injecting them. They are subcutaneous injections (under the skin) and are really easy to inject. They are pre-filled, so no messing around mixing the required dose. I am not sure why thinning the blood helps the embryo(s) implant.

Prontogest injections.
Prontogest injections are being used in my case, instead of the cyclogest pessaries.

Cyclogest pessaries contain projesterone and can be used vaginally or rectally. With cyclogest pessaries, which I used to use, it was found that my projesterone was still a bit low (on cycle 5 it was tested) so I was given Gestone.

Gestone is an intramuscular injection. On this cycle however, I was told Gestone wasn't available anywhere in the country at the moment, so I am having Prontagest.

Prontagest is also an intramuscular injection.   I hate these injections. Steve does them for me. I could do them myself if I did them in the top of my leg but the needle is so long, I don't think I would be able to do it.

I believe this extra projesterone helps to keep your period at bay and helps sustain the pregnancy.

Progynova pills
These contain oestrogen.  Extra oestrogen heps thicken the womb lining and helps maintain a thick womb lining after the embryo transfer.

Aspirin
These help to thin the blood. I am not sure why this is useful in IVF, but that is what I am told to take so there must be some evidence that it increases success rates.

Multivitamins with folic acid
I take vitamins that are designed with pregnancy in mind, so that if I do get pregnant the baby will benefit from them. I believe the extra vitamins in my body will help it develop and it is well known that folic acid helps reduce the likelihood of your baby being born with spina bifida.

Further information:

Article saying don't take multivitamins when pregnant (because of vitamin A). However, it is referring to multivitamins that aren't designed for pregnancy.

http://news.bbc.co.uk/1/hi/health/4699041.stm

All the advice about what you should and shouldn't do when pregnant can be an absolute minefield. It's not surprising some women end up nervous wrecks.

Babycentre information on pregnancy supplements

Meeting Jono and Laura on egg collection day

2011-02-28T11:22:00.000-08:00

Yesterday on egg collection day, we met Jono and Laura who are researching their options for when they decide to have children. In vitro fertilisation (IVF) with pre-implantation genetic diagnosis (PGD) is one of their potential routes to having children, and avoiding passing on Treacher Collins syndrome. They had the opportunity to chat to Steve and I, as people undergoing the process and they got to ask Mr. Paul Serhal a few questions.

I met Matt from special editions documentaries, he is the director of the documentary. I have never met him before, my dealings have been with Joe who is a researcher.

I was glad to see that everyone was made to wear embarrassing outfits, as the whole time I was being filmed I had my hospital gown on! Overall, the filming made what is normally a very dull day, far more interesting! It was really fun.

Jono and Laura are getting a really good opportunity to learn about their options, before they make any decisions. I would have liked that opportunity. I have written about this before in my blog, but I didn’t meet or speak to patients who had done PGD until I was already pregnant with Dexter. I had the medical opinions from doctors and other hospital staff, but they can only present one side. You need to talk to patients to ask questions such as: did you tell work? Did you tell family and friends? What do the injections feel like? How much did you spend on non hospital expenses?

It also took me months to speak to anyone who had medical knowledge on the topic, as there was a waiting list to get referred to the hospital (plus I was made to wait a couple of months until my diagnosis was official, before I was referred, even though it was obvious I had inherited the abnormal Myotonic dystrophy gene because of my symptoms).

Obviously, we can’t all have documentary makers helping us with our research, but hopefully the resulting documentary will go a long way to helping other people. Therefore I’d like to say thanks to Special editions documentaries for deciding to cover this topic, and thanks to the BBC3 for commissioning it.

Thanks Matt and Joe for helping to raise awareness on the decisions people with genetic conditions have to make when they decide to start a family. It was great to meet you.

It was also lovely to meet Jono and Laura and I wish them well with the rest of their research and with whatever path they eventually decide to take.

Fertilisation results for my IVF

2011-02-28T01:43:00.000-08:00

Steve has just taken the phone call from CRGH and 7 eggs fertilised normally, so that’s how many embryos we have. Of the 13 eggs, only 11 were suitable for intracytoplasmic sperm injection (ICSI). The other two were probably from the smaller follicles so immature (we weren’t told that, it is just my guess).

One of the eggs didn’t survive the fertilisation. I have never known that happen before in any of my cycles.

Seven out of the ten eggs (discounting the immature and non surviving ones) is an average fertilisation rate and so we should be pleased with that. However, going down from thirteen eggs to seven embryos on the first day, is really disappointing.

Some people reading this may be doing IVF and struggling to get just a couple of embryos so it probably seems a bit strange to be disappointed with seven. Of course our situation is different, as we know our embryos don’t grow well and because of me having Myotonic dystrophy, they still have to go through the pre-implantation genetic diagnosis (PGD) procedure. On average 50% will be affected by the abnormal Myotonic dystrophy gene, plus you sometimes gets occurences where the test results are ‘inconclusive’.

When you are doing PGD, you really need to have a decent number of embryos. Overall, I am feeling gutted with today’s results. It has reduced our chances of success somewhat.

However, I must think positively - it only takes one! Maybe, one of those embryos is an absolute beauty, will grow perfectly, become a blastocyst by day 5 like Dexter did and turn into a sibling for him.

Fingers crossed.

Egg collection (egg retrieval) for in vitro fertilisation (IVF)

2011-02-27T14:02:00.000-08:00

We arrived at the hospital at about 09:00 on the dot ready for the egg collection procedure. Sometimes you hear egg collection referred to as egg retrieval, but at my hospital they always say egg collection.

Before the egg collection procedure we...

Spoke to the anaesthetist about my health
Spoke to Mr. Paul Serhal about the procedure
Signed LOTS of consent forms. It takes forever to read them all.
Got changed into my fetching hospital gown
Hung around for ages, waiting for my turn.

I told Paul Serhal (who did the procedure) that I was hoping for at least 10 eggs. He said we should hopefully be able to get that looking at my charts (with the size of the follicles on them). There was one follicle that was a bit ahead of the rest and he said that one may be over mature as it is too big. There were plenty that were a good size though as well.

Eventually my turn came around, I walked into theatre and lay down on the bed. There were at least five or six people in the room. I can’t remember exactly how many. I find it really daunting when I first go into theatre, even though I have done it plenty of times before.

Once I was on the bed, I was asked lots of questions again and then was asked to cough while the needle was put in my vein. Shortly afterwards, I was warned that I was about to feel my arm ache. It aches a lot for a short period of time, and that is the last thing I remember.

After I woke up back on the ward, Steve told me we had 13 eggs. I am really pleased with that number. We got over 20 each time when we used Gonal F as well as Menopur (cycles 4 and 5), but the aim this cycle was not to go for maximum number of eggs. We are hoping that although I have a smaller number, they will be better quality and therefore more likely to result in a baby.

I have done egg collection six times now. The amount of pain afterwards has varied a lot from absolutely no pain to period like pains for a couple of days. On this occasion I was in quite a bit of pain, but it seems to have passed now. My tummy is very bloated. I could easily be mistaken for being 4 months pregnant. It didn’t help that I had to eat fast food on the way home as I was starving and it took us over an hour to travel four miles trying to get out of London. I couldn’t wait any longer for somewhere nice to eat, so we had to eat rubbish.

By the time we got home, it was 19:00 and Steve and I were shattered and in really bad moods. Luckily Dexter was up so we had some nice cuddles and my parents had made us some nice food for a proper tea. (By the way in Sheffield we say tea for what most people call dinner. Dinner means lunch to us)

Medication

I am taking my first injection of Prontogest tonight. It is an intramuscular injection, which Steve has to do for me, as it goes into the muscle in my bottom. The needle is very long compared to the other kinds of injections I have been doing.

Prontogest is projesterone and will help to keep my period away and hopefully to sustain the pregnancy.

I still am on the antibiotics and the multivitamin tablets.

Picture

Here’s a picture of me after I have just come around from my sedation. I am not looking good! I did say this was going to be an honest blog though and you generally aren’t looking your best when you do IVF.

Tomorrow I will know how many eggs fertilised, so will post about that. We hope for 70% to have fertilised. Might write about some of the things that happened for the documentary too. I have to be careful what I write, so I don't let the cat out of the bag before the documentary goes on TV. I will check before I post!

A later addition to this post about sedation

One of my commenters thought I had done a general aneasthetic after reading the post above, and reading back I can see it would seem a bit like that to people who are unfamiliar with the process. This comment reminded me that before I started IVF, I didn't know what sedation meant. I thought I would be awake but a bit sleepy or something.

In my case, I couldn't eat or drink after midnight the previous night (except for sips of water before 6:00am). I go into a proper theatre, which they have at CRGH. It is an aneasthetist who puts me to sleep and discusses my health issues before hand. (I think this is the case for everyone, but I may check that. Myotonic dystrophy patients have to be wary with aneasthetics so it is possible some things are different for me).

I was wearing an oxygen mask. The medication they use (is medication the right word?) goes into my arm and I can feel it going in. My arm had a dull painful ache, but only for a short period of time as then I'm asleep.

When I was sedated, I was completely asleep and was aware of nothing. My bed gets wheeled back to the ward and that is where I get woken up. The who thing only lasts forty five minutes or so but I am a bit groggy for a while afterwards. Because of my Myotonic dystrophy, I sometimes find my speech slurred as well, as I come round.

I heard Paul Serhal saying that not all hospitals use a theatre like they do, but he prefers to use a theatre. Sometimes patients prefer to just have a local anaesthetic, (I can't imagine why!) and a patient wanted hers doing with no anaesthetic at all! If you only have one or two follicles, then perhaps it is more appropriate to use a local aeasthetic but if you have a number like I did, you want them to be able to poke around and find every last egg.

I also heard Paul Serhal saying if the patient is sedated they are completely still. which makes the egg collection procedure easier.

Further information:

There is a little section on this CRGH web page which describes the egg collection procedure.

I have found it hard to find that much information on the egg collection procedure. Mostly they are just IVF clinics’ websites. If anyone has any informative links, please add them by writing a comment.

Deep sedation vs aneasthesia.

HCG injection (trigger injection)

2011-02-27T12:42:00.000-08:00

At 23:00 on Friday, I injected the HCG injection in preparation for my egg collection today. HCG stands for human chorionic gonadotrophin, which is a natural sex hormone. The injection stimulates the final maturation of the eggs.

You may also hear this injection being called Pregnyl, as that is the brand name. Probably, there are other brands too, but I have always had Pregnyl.

If you have a read on internet, you will discover that Pregnyl gets used for plenty of other reasons, in both men and women. For example, it can be used to induce ovulation in some ladies. I have only ever used it for IVF though. In the case of IVF the eggs are collected 32 to 36 hours after the Pregnyl injection.

This injection stings a bit more than my Menopur ones. In fact the next day, I could still feel a hard lump that was a bit tender at the injection site. You mix it in the same way as Menopur.

Saturday was an injection free day (won’t last though, unfortunately). We went to stay with friends in Berkshire on Saturday night, so that we were a bit closer to the hospital. Was a good opportunity to visit them. Thanks Rick and Becky. Thanks also Jodie for the offer. We are lucky, we know quite a few people in the vicinity of London, so can usually find somewhere to stay if it is necessary.

Next post is about the egg collection which happened today.

Further information:

http://www.netdoctor.co.uk/medicines/100002130.html

IVF stimulation day 11 – great news!

2011-02-25T07:10:00.000-08:00

I went to London again today for another scan of my ovaries and a blood test. This time the doctor measured seven follicles on each side. I must have been correct in my last post, when I wrote that there is a bit of subjectivity in deciding which ones to measure. That will be the reason for the changing numbers of follicles.

I told the doctor I wanted a picture of my ovaries and she was surprised (it is a strange request, I suppose). When I explained I was a blogger, she said she would get me a beautiful picture! They are good pictures, my best yet! The top picture has two ovaries on it, and the bottom picture has just the one. You can clearly see the follicles (the black circles).

I looked on the scanner screen and saw at least two follicles that were over 24mm.

Nurses appointment

After the scan, I went to see a nurse who took some blood as usual. This time my oestrogen, my projesterone and my LH levels are being tested. I was told this time that if the projesterone is too high, then it can affect the womb lining. Before I was told it could affect the eggs, so maybe it affects both. The LH is being tested to make sure I am not going to ovulate.

The nurse gave me all me medication for over the weekend and for before and after my egg collection.

Great news!

My egg collection has been moved forward a day. Despite being inconvenient, as we have planned our schedules around it, I think this is really good news, because it must mean my ovaries are doing well and my follicles are ready early.

My understanding (from being a patient, I have no scientific evidence of this) is that the follicles that grow the fastest out of the bunch may contain the best quality eggs, and so may turn into the best embryos. That is something I have picked up from conversations over the years. It therefore seems to me like a good thing, that I am ready early. The nurse said that it was good.

To my friend Vicky!

Congratulations to my friend Vicky who works full time and still manages to study! She got 81% in her assignment. I told her, they will need a new grade for her, she is clearly too good for a first. Well done Vicky, you are a clever girl!

20:20 update

The call from CRGH was really late this evening. It was Joy and she said everything was fine with the blood tests, I am to take my trigger injection at 11:00 this evening. The time they tell you to take it depends on what time your egg collection will be. My egg collection is on Sunday at midday (probably one of the last ones). That is later than usual, but it is to do with the TV cameras being around.

Some strange things happened today. One thing in particular was very odd. When I went to my seat on the train, at the top it usually says "Reserved Sheffield to St Pancras" on the electronic label system that they have. Well this time it said "SHONA Reserved Sheffield to St Pancras". Isn't that odd? I can't imagine why it had my name on it when nobody else's did.