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Sharing my rare disease story - Julia Tonge

In June 2018 I had been working as a clinical research manager in Rare Disease for over 7 years, and was just weeks away from graduating with a PhD that had explored reproductive decision-making in a rare disorder that had a complex inheritance pathway. I also had what my husband and I understood to be a routine growth scan of our baby at 28 weeks. We were very excited to see our son Corey on screen again especially as we had only just had a 4D scan for Father’s Day 3 days previous. Suddenly the midwife started to spend a lot of time looking at our son’s legs, and then became silent. She hung up the probe and told us there was something wrong with our baby and she couldn’t make out the bones of his leg on his right side. She exited the room to make another appointment for a week’s time whilst we sat stunned, she then returned to say she had just bumped into the head of foetal medicine in the corridor who could see us now. He also entered silently and proceeded to conduct the scan without a sound. He said we needed to go with him to his unit and we followed him through the corridor past all the other couples waiting. He told us he believed Corey had a right knee and possibly a fibula and an ankle but he could not be certain. He believed our son had been affected by Amniotic Band Syndrome (ABS), whereby parts of the amniotic sac can come away and get wrapped around the developing foetus, in our case it was likely to have happened between 7-12 weeks gestation.

Over the next 12 weeks we went through a world wind of emotions and I sought out patient/parent groups that could support us. My husband had proof read my thesis enough to know the dilemmas faced by families and we had had many conversations about what would we do in the face of a genetic diagnosis, we had not had these about congenital disorders, the 20% of rare diseases. On Sept 9th 2018 at 12:01 noon Corey arrived in a lovely calm water birth. He was strong and healthy and we fell in love with is ‘little foot’ which was a large boneless mass with a tiny perfect big toe inside. I had done my best to research experts and treatment pathways, unfortunately we experienced some of the same challenges that many other rare disease families have of falling between specialities, delayed appointments and treatment disagreements. We in fact only had an agreed diagnosis of ABS after 2 years; having ruled out some potential genetic conditions and vascular disruption to limb buds early on in the pregnancy. I accessed second opinions and utilised medical boards who were part of lower limb difference charities. With this and the help of an amazing Health Visitor we found the right surgeon for us, accessed early engagement with a prosthetic team and also a health psychologist to support us through the amputation process.

Corey is now 2 and half years old and we are waiting on delivery of leg #6. He is thriving and is an absolute delight, nothing slows him down. We are an active member of a limb difference charity called Limb Power Juniors which means the world to us, we look forward to all meeting up again and celebrating our children and their sheer determination.

I had celebrated Rare Disease Day passionately before our son’s diagnosis but now it feels that extra bit special. I know that by being part of the 91黑料 CNS and Rare Disease team I can contribute to making a difference in the lives of patients affected by rare disease.

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