TTC: The Bubble of Hope

I’m really pleased to be welcoming Becky to the blog today. Like many of you reading this she’s recently married and in the early stages of trying for a baby. Unlike most, Becky is aware that she has a genetic condition that makes the business of having a baby rather more complicated than normal. She’s speaks of the risk of Fragile X Syndrome and the sad possibility that she may need to consider a termination.

When I was in my late teens and early twenties, I used to view with pity those women who panicked about getting married and having children before they turned 30. How silly, I thought, to plan their lives around one birthday, or see it as some kind of failure if they didn’t manage these things ‘on time’.

When I was in my early twenties, I found out that I had a genetic condition. Some genetic conditions are fairly straightforward – you either have it, or you are a carrier. In some ways, I view myself as a carrier, but it’s a little more complicated than that. I have what is called a ‘premutation’ of one section of one of my X chromosomes. If I pass that chromosome onto a child (instead of my other, healthy chromosome) then the child may also have a ‘premutation’, or there is a 30% chance of it mutating further into ‘full mutation’ which would mean that child has Fragile X Syndrome. It is a little known syndrome, and yet surprisingly common and accounts for an awful lot of severe developmental delays and learning difficulties, particularly in boys. This news didn’t overly alarm me – I had years and years to work out what to do, and I was single at the time and not exactly broody. Only then I also found out that women who had the premutation were prone to ‘premature ovarian failure’ – ie I am likely to have early menopause and was advised to try and start a family before I was 30. Great. Suddenly those women seemed a little less pathetic!

Fragile X Syndrome | Trying to conceive with a genetic condition | TTC | Riding the Stork, a UK mummy and baby blogImage credit

Fast forward a few years, and I meet and marry an amazing man. Before we even got married, we decided that we would like to start trying to a baby in 2013. We have both been getting increasingly broody, but have patiently waited and also discussed the genetic issues with our GP and have since had an appointment with a genetic councillor. We were given the following options:

  1. Not having children – not an option we liked!
  2. Have children naturally and accept the 15% risk of having a chile with Fragile X Syndrome – not something we feel we could cope with, and we have a family member with the symdrome so fully understand just how challenging, difficult and damaging that can be.
  3. Have something called PGD – preimplantation genetic diagnosis – which is IVF where the embryos are tested before then being implanted. There is only one hospital where this is possible on the NHS, which is in London. The time, costs of travel, amount of drugs, the ‘interference’, the pressure of MAKING it work, the limit on number of cycles… we haven’t totally ruled it out, but neither my husband or I feel we can face that right now. We also found out that PGD only screens for the one condition, so there would still be all of the ‘normal’ risks of any other child conceived naturally.
  4. Conceive naturally, and then have the embryo screened (not just for Fragile X, but many other genetic conditions would automatically be screened for at the same time) either by CVS at around 11 weeks, or amniocentesis at around 16 weeks. Depending on the results of the screening, we would be able to consider terminating the pregnancy. We do not underestimate the psychological impact of that, but we feel that this is the option for us at the moment.

So here we are, nearing the end of our first cycle of trying to conceive, playing the waiting game. My heart is desperate to get a positive pregnancy test as soon as possible, but my head is constantly cautioning me, trying to prepare me for the fact that there is still that 15% chance that a positive pregnancy test may result in a termination. We are trying to approach this practically and objectively, but the fact is that this journey is going to be difficult and potentially heart-breaking. I know we will not be able to fully enjoy the first trimester until we know whether we can proceed or not. We don’t feel we can tell any friends or family until we get an ‘all clear’ because we don’t want them to worry or keep asking questions. At the same time, we are trying to be positive and there is a tiny bubble of optimistic excitement that my sensible head just can’t pop!

 

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7 thoughts on “TTC: The Bubble of Hope

  1. Oh Becky, thank you for sharing. What a heartbreaking position to be in, I admire the strength of you and your H. I will keep everything crossed for you that when you do get your BFP, the scans show that there is nothing wrong, and no decisions to be made, x

  2. It must take a lot of courage to chase your dream despite there being risks involved.

    May I ask how you found out that you were a carrier of Fragile X? Does the woman often have no idea she is a carrier until she has an affected child?

  3. Thank you for sharing Becky. What a difficult position you are in and thank you for speaking so honestly about it.

    I keep my fingers crossed that you get your BFP and that everything is hunky dory from there!

  4. Thank you for your support, ladies. A family member was diagnosed at about the age of 2yrs IIRC, due to global developmental delay, especially speech. Once the doctors know what to test, it’s very easy to diagnose by blood test. Both parents were then tested, and it was tracked back to the grandparent who had the premutation (one of my parents) and then I was tested.

    Supposedly there are no / very few symptoms associated with being a carrier, so it is very difficult for people to identify risks until someone develops the full mutation and is diagnosed. Women with premutation may have premature ovarian failure and men with premutation may have slight tremors similar to Parkinsons (but nowhere near as severe) but both of those ‘symptoms’ could easily be just one of those things, and of course both occur after having children and potentially passing the condition down the line.

  5. I have a fragile x son, and while we have our challenges, he is the love of my life. If you are blessed with a baby, and I truly hope you are, you will love, and be able to care for him or her no matter what challenges there are. There are no perfect kids… Or parents!

    Blessings to you and your husband.
    Matt

  6. Thank you Matt, you are right of course, every child is a blessing no matter what challenges are encountered. Much love to you and your family. xx

  7. Pingback: The Pregnancy Diaries | Calendars and Counting | 8 weeks | Riding The Stork

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