The baby we fought to protect

When we found out about our daughter’s genetic condition, one of the first things I realised and worried about was the uncertainty around conceiving future children. Knobloch Syndrome is a recessive inherited condition, meaning that both my husband and I are carriers.

Any future children we decided to have would have a 50% chance of being carriers, a 25% chance of being unaffected and a 25% chance of being affected. We had conceived our son, Patrick, before we knew about the condition. I had always wanted three children so while I know we are lucky to have two, it felt like another injustice and loss for our family.

Soon after Orla’s diagnosis, we were given an appointment with a genetic counsellor at Liverpool Women’s Hospital. She was fabulous – so understanding, clear and empathetic. She explained our options for expanding our family. Option 1) we could try naturally. At 12-13 weeks we would be offered a CVS and results would be available within 2 weeks. There were lots of downsides to this option – as you can imagine – and it was something we didn’t want to consider at the time. How would I feel faced with the knowledge that my baby had the condition? What if my husband and I differed on what we wanted to do? What impact would a child with additional needs have on the time I had available for Orla? The aforementioned process was also a ‘if everything went to plan’ scenario. There could be delays to testing, testing could be wrong, testing could cause a miscarriage. Option 2) We could try IVF with PGT-M. This option really does show you what is possible with modern science! Like traditional IVF, eggs would be taken from me and mixed with/injected with Anthony’s sperm. The embryos would need to develop until day 5, so that they reached approximately 100 cells. A few cells would then be collected and sent off to the genetic lab in Oxford for testing, while the rest of the embryo would stay in Manchester, frozen, while we awaited the genetic results. In an ideal world, we would have around 5 embryos to test, and a couple of them would be ‘healthy’ and able to transfer. The big downfall to this option was the cost: from the initial IVF appointment to embryo transfer, the cost was about £16,000. Our genetic counsellor did explain that the NHS was hoping to offer this to families affected by genetic conditions in the future, the relevant bills/policies and whatever else is needed to approve something like this was still in its infancy.

After much discussion, my husband and I decided that we would give the IVF a shot. The disease had already taken so much from us and our little girl – we weren’t going to let it ruin our dream of a big family. This is where the work really began! Because Knobloch Syndrome was so rare, nobody had ever asked to undertake IVF with genetic testing for it before. It meant that we had to apply to the HFEA (Human Fertilisation and Embryology Authority) for a licence to carry out the genetic testing. I am assuming this is because of the ethics involved in certain genetic conditions – you can’t do genetic testing for conditions that are not life limiting and serious.

The licencing took around nine months to attain. We began the first IVF cycle in November 2024 and it went smoothly: we retrieve 15 eggs, 12 fertilised with ICSI and on day three, we had nine top quality ‘A grade’ embryos. However, just 2 days later we received a devastating phone call to say that all embryos had ‘arrested’ and stopped growing. That was it. Nothing to test, nothing to transfer, the end of the journey. We feel guilty now in hindsight being so ignorant to the whole process of IVF and believing that it would work first time given our relatively easy journey into parenthood. We were advised to try again and that there was no reason why it hadn’t worked… just one of those things. Still, we had further testing to double check that nothing had been missed. No stone was left unturned.

For the second round of IVF, we were certainly more cynical and cautious. The process went smoothly again and, this time, we retrieved 25 eggs. 24 were mature. We put 12 in an ICSI group and 12 in an IVF group. Surprisingly, by day three we still had 11 top quality embryos in the IVF group and nine top quality embryos in the ICSI group. Again, it was so hard to know we had 18 embryos that all looked so promising and not get our hopes up. Statistically, around 30-50% of eggs would ‘die off’ between day one and day five. Even our worse case scenario should have left us with nine. However, on day five, it was again sad news. None of the embryos had made it and all had arrested. There was some issue in getting from day three to five and nobody could tell us why. After our case was discussed on a panel of experts, there were still no answers. We were advised that my body just mustn’t like the artificial hormones and to try ‘natural cycle IVF instead’.

By this time, we were 18 months into trying to conceive a third child and I was always conscious of chasing a dream that might never happen and missing out on the pure magic, happiness and enjoyment of the two children I did have. We were so lucky in so many ways. With that said, I still thought it worthwhile going back to the genetic counsellor and asking her to remind me of the process if I were to conceive naturally… I went back to my husband after that conversation and said that I would like to give it a go. A last ditch attempt. A ‘let’s see what happens’. A ‘what’s meant to be will be’. He didn’t quite see it that way (!!) being the more logical, thoughtful and sensible one in the relationship but he agreed to try nevertheless. His worries centred around who would want to do what if the time came to make a difficult decision. As the dreamer, I was more thinking about the joy and happiness of conceiving!

Two months later, we were lucky enough to see a faint line on a pregnancy test and we were thrilled, but also slapped with a harsh dose of reality: we were really doing this! I went back to the genetic counsellor via email and she could not have been more supportive, efficient and understanding. She booked me in for a scan at eight weeks to confirm the pregnancy and confirm how far along I was. I asked if the CVS test could be done at 11 weeks and six days (a Friday) because I was due to fly out to my brother’s wedding in Majorca on the Sunday and didn’t want to wait until my return to have the test done. She said she would try see what she could do but usually they were unable to get accurate results that early on. Because a CVS relies on taking cells from the placenta, the placenta would need to be in an accessible position and need to be large enough to obtain cells from. I was therefore really surprised to receive an appointment for the test on the Tuesday (making me 11 weeks and three days). I was so nervous, knowing that if they couldn’t get the genetic material they needed then, I would have to wait nearly two weeks for the next opportunity.

The day of the test came around and we entered the ultrasound room. The consultant in foetal medicine scanned me to see where my placenta was lying and if it was accessible. I could tell from her face that it wasn’t looking good. She said that my placenta was posterior, making it hard for her to reach. She also said that my bladder was bursting and to go to the toilet to see if that made any difference. To my surprise, when I returned, she said that actually my bladder moving out the way had brought the placenta forward and while it was tricky, she thought she could do it. So, I was prepped and signed the relevant consent forms. I laid down on the bed and was told not to move a muscle. There were around 8 people in the room, all with different job titles and different roles and responsibilities. It was overwhelming, but it also made me feel really safe and well-looked-after with all of these experts in the room.

The test itself went really well. It took around 10 minutes and I just needed to lie really still and close my eyes. My tummy was numbed with local anaesthetic so that I could not feel the needle go in. However, they cannot numb your uterus and because the uterus is a muscle, it would tense up when the needle went through it. I felt a period-type cramp for a few seconds and then it was over. It was absolutely fine and much less invasive than I had worried about.

We were told to expect results in around 2 weeks – which was the worst part of all! However, after 2 days I received a call to say that the results MIGHT be available tomorrow and to prepare myself. I spent the day in bed binge eating and watching Netflix, more nervous than I had ever been about anything before. As time went on, I became more and more worried that I wouldn’t hear that day. “But Catherine said she would definitely call today no matter what”, I said to my husband at 4.30pm on the Friday evening as we walked around his grandad’s field while Orla and Patrick rode on the tractor and combine harvester! “I can’t believe she’s gone home for the weekend now without ringing – it’s not like her”.

Suddenly, at 5.05pm, I got a ‘No Caller ID’ phone call. I knew it was Catherine. She had stayed in work late for me, chasing up the results so that I wouldn’t have to wait all weekend in anticipation. I answered quickly and she told me that she would have the results in 5 minutes, to prepare and to get somewhere private. A field was as good as anywhere and at least the kids were entertained! The next few minutes were nail-biting and my stomach was churning with worry.

The phone rang again and I answered – this time putting her on speaker.

“I am pleased to tell you that the genetic test confirms the baby is not affected by the condition” she said.

Well, we couldn’t believe it. I was only glad that my husband was with me so that he could verify that I wasn’t hearing things or making things up! After everything we had been through over the 2 previous years, the setbacks and disappointments, we finally had some good news. We felt that we didn’t deserve to be this lucky and were just so grateful to get this chance, this opportunity to be parents again and grow our family.

As I write, I am 36 weeks pregnant and ready to pop. I am so pleased we decided to take a chance and still pinch myself that we could be so lucky.  Our family is finally complete and I feel like it is one thing that Knobloch hasn’t been able to take away from us.

By Victoria Crompton