28.02.2017 World Rare Disease Day: Our Genetics Journey, Part 1.

This Tuesday is World Rare Disease Day. It’s a poignant one for my family and many others…

From a young age, I’ve known that there was a possibility of me carrying Pelizaeus Merzbacher Disease (PMD), the condition that means the sufferer has no myelin that caused both my uncle and my brother to pass away in infancy. Similar in its symptoms to Cerebral Palsy, it was originally diagnosed as such when my parents noticed that my brother wasn’t developing as he should a month or so after birth. At that time (the early 1980s), very little was known about the condition. Now, there is a PMD Foundation in the US and a UK support group.

I was diagnosed as a carrier in 2010, when a blood sample from my brother, stored at Great Ormond Street Hospital for almost 30 years, was compared to a sample of mine. Through we weren’t ready to start a family then, at least Phil and I knew what we were dealing with. The odds are somewhere between 1 in 300k and 1 in 1 million. For us, they were 1 in 4.

In August 2014, we headed to GOSH to talk through our choices with Dr Jane Hurst, a specialist in prenatal diagnosis of genetic conditions. They were twofold:

  1. Pre-implantation Genetic Diagnosis (PIGD). This involves a procedure similar to IVF, but with a screening process on each blastocyst, the affected ones being discarded before a healthy embryo is implanted back in the womb.
  2. Letting nature take its course. Get pregnant, wait 10 weeks, have a blood test to determine the sex of the baby (this can now be as early as 7 weeks), wait for the results. A female means the pregnancy becomes classed as ‘normal’, a male would mean a CVS, a further two week wait on the results and

Initially, the first option seemed like the obvious choice. However, it soon became apparent that there were six points along that journey where we could ‘fail’; six opportunities for heartbreak. We imagined getting almost all the way before falling at the sixth hurdle. We imagined the toll the hormone therapy, egg harvesting and reimplantation would take on my body and our emotions. We considered the £9,000 it would cost the NHS to put us through the treatment and the possibility that all the eggs harvested could be affected, or not survive the treatment.

The second option quickly began to seem like the right choice for us. As far as we knew, there was no reason why we couldn’t conceive naturally and the odds were 75% in our favour. We called GOSH and explained our choice.

Good fortune smiled on us at the first hurdle. On 24th January, a positive test revealed that I was pregnant. Not getting excited was tough; it’s a struggle against nature not to bond with the life growing inside you. At eleven weeks, we visited the John Radcliffe Hospital for a blood test that would reveal the gender of our baby. That, we were prepared for, but it was only when we arrived that we realised there was also a scan involved. This was bloody tough. Again, you’re battling, with every fibre of your being, not to get excited when the radiographer tells you, ‘it looks like a very healthy baby’, because you know that it might be anything but.

This was a Tuesday. The results would be with us by Monday, perhaps even Friday. Time stretched out in front of us and we prayed that we’d know by the weekend. Friday came and went and I, for the first time ever, willed the weekend away. Monday passed us by and a call to our specialist was filled with apologies and reassurances – her hands were tied; our sample was in Bristol and there was nothing she could do to speed things along.

Tuesday was struggle. I was thankful for supportive colleagues that day and, fortunately, it was my lightest teaching day. I got home at 5.30pm. Still no call. I assumed we’d need to wait another day and told Phil he may as well collect our car from the garage – there was no point sitting by the phone anymore that day. About 15 minutes after he left, I MISSED A CALL from our specialist. I called back within a few minutes:

Lovely midwife: “I’m so sorry, she’s gone home for the day.”

Me: *silence*

Lovely midwife: (After what felt like hours) “She has left your results here though” (Another pause that Dermot O’Leary would be proud of). “It’s a female.”

It took at least another three weeks before I felt able to get excited about being pregnant. Whilst it wasn’t the ideal start to a pregnancy, we are forever grateful to the NHS and for the advances in medicine and genetic research over the last two decades – the fact we were able to find out Primrose’s sex so early, therefore knowing that she was healthy, was a huge relief.

For more information on World Rare Disease Day 2017, click here. I’ll post again on Tuesday with the second part of our story.

Jo, The Mother Side xx

3 thoughts on “28.02.2017 World Rare Disease Day: Our Genetics Journey, Part 1.

  1. I’ve got a similar story to tell. A rare genetic condition that lurks in the background of our family and causes a horrible, debilitating and ultimately fatal illness that you wouldn’t wish on your worst enemy. A 50/50 chance of any child inheriting the gene that causes it. Close family members who had already died as a result.

    With help from the genetics team at John Radcliffe and the amazing IVF specialists at Guy’s we ended up going down the PGD route. Took a lot of time, a lot of heartache and a painful amount of stress. The first cycle was a total failure, not a single fertilised egg matured enough to even be tested.

    On our second attempt we managed one single solitary embryo. With the hurdles of biopsy, freezing, testing, defrosting and transfer to overcome we tried not to get our hopes up, kept preparing ourselves for the inevitable disappointment. But somehow this plucky little embryo kept on keeping on. After nine months spent being absolutely convinced that a miscarriage was just around the corner or that the baby would be born with some terrible-yet-undetectable problem, we finally found ourselves with a beautiful healthy little boy.

    He’s nearly two now, but there’s not a day goes by that I don’t look at him and think what a little miracle he is. Before he was even born – before he was even in the womb – he went through so much. And somehow came out the other side.


    1. Hello Ms Anonymous,
      Our conditions sound very similar, though girls cannot inherit the condition and boys are 50/50, so our odds were lower, at 25%.
      The team at the JR were just fantastic – we saw Deidre Cilliers; I’m glad you felt so well supported. What happened on your first cycle was what stopped us opting for PIGD – it must have put such a strain on you physically and emotionally. But then WOW! Your little boy is seriously tenacious. What a little fighter!
      Thank you so much for taking the time to share this and I’m delighted that your story has such a happy ending.
      If you ever decide that you’d like to share your story in more detail, please let us know – we’ve recently put out a Facebook request for guest writers and your story could really reassure other parents in the same position.
      Love, Jo Mother Side xx


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