‘We’ve stopped muscular dystrophy in its tracks’

Sarah and Tommy explain how pre-implantation genetic testing helped their children, Jacob and Theodore

Sarah – “Tommy and I were turning thirty. We’d been together for a long time (we’d met on the swim team at Manchester University) and we knew we wanted children but had never discussed when that would happen. Then we found out there was a serious genetic condition in my family and everything changed.

“My grandma was diagnosed with Facioscapulohumeral muscular dystrophy (FSHD), a rare form of the degenerative condition which leads to muscle weakness and wasting in the face, shoulder blades and upper arms. I looked into it and realised it was genetically inherited. My mum and I were both at risk and had to decide if we wanted to know. My mum didn’t mind whether she found out or not but it affected me having children, so I wanted to know. That was tricky because if I knew, I was effectively finding out for my mum as well.

“I was tested by the genetics team at Oxford University hospital and then diagnosed with FHSD. I have a 50% chance of passing it on. The medical team said it was possible to do a genetic diagnosis on embryos, so I wouldn’t pass it on.

“As this was genetic screening, we had three funded tries under NHS England, rather than standard IVF funding via our local authority. This was a big motivator for us. We didn’t know if the funding would still be available in a few years’ time, so we decided to go for it.

“We were referred direct to Oxford Fertility and, actually, we’d have chosen the clinic anyway. We’d looked at all of the success rates online and were really pleased to be with them. But prior to starting the IVF process, we paid for a private consult with the clinic, to get a better understanding of what would be involved and exactly what the funding would cover. We had loads of questions and because we’d paid for the time, we felt confident to ask them all.

“So, we started the process in 2017. I admit I was a bit nervous of the needles but after one or two goes it became normal. And I was worried about the egg retrieval process as I’d never been under sedation before. Other than being nervous about the process, the drugs didn’t hit me that hard at all.”

Tommy – “Of the eggs retrieved, four had the FHSD gene signature and one had a chromosomal abnormality. We were left with three good eggs. The actual genetic testing was done overseas. They sent the embryos to America and the lab technician analysing the results was in South Africa. It was an international effort!  It’s not a super-rare condition (one in 20,000 will be diagnosed with FSHD) but the tests are quite new.”

Sarah – “The pregnancy with Jacob was OK. I had a little bit of morning sickness but that was all. I was considered high risk because of the IVF and muscular dystrophy but nothing really arose from that risk, I was just under consultant-led care.

“The birth was induced. My waters broke early, at 38 weeks at 4am. We had moved to Gerard’s Cross two weeks before, so we drove back to Oxford, to the John Radcliffe, and they said to give it 24 hours. Rather than drive home again, we set up a camp in the local Travel Lodge. But nothing happened so I went back in later that night and was admitted and an induction was started. It ended as an epidural with a forceps delivery a day later but when Jacob finally arrived, he was 7lbs 11oz and a nice happy baby.  

“We started thinking about trying for a second baby and in late summer 2020 we got the ball rolling again. It was quite nice the second time because it was a much shorter process and we could keep it quieter from family.  When we told them we were pregnant, they were super happy. It was a lovely reveal.

“The second pregnancy was more stressful though. At my 28 scan they found I had excess amniotic fluid so they did a TORCH blood test. This looked for a number of common infections. The problem was that some of these could harm the baby.

“I had antibodies for two of the infections in my blood but, when we checked my original bloods, taken at my booking-in appointment, the antibodies were there, too.  This meant I’d most likely had the infections prior to pregnancy, so everything should be fine.

“Theodore’s birth was a bit eventful as he had the cord wrapped around his neck. I had managed to get into established labour but his heart rate kept dropping. Eventually they decided to try for a forceps delivery. If that hadn’t worked, it would be a caesarean. They gave it three tries with the forceps – and then one more, which worked.

“He was born on 28 June last year and it has taken me quite a few months get used to having two children. There are 21 months between them, so life has been a whirlwind. The boys are lovely together, though, and our family is really happy.”

Tommy – “Knowing that neither of the boys will have muscular dystrophy and that they won’t pass it on to their children, is fantastic. Stopping the disease was definitely worth it.”

Sarah – “I would recommend the Oxford clinic. The staff always responded quickly. I don’t think anything could have been any better. It is hard to complain when you’ve had two successes. It worked like a dream – twice!”