In the week of the awareness-raising campaign Rare Diseases Day, Sofya Court hopes the story of her son – born with a syndrome shared by only a few hundred people worldwide – will inspire others coping with obscure conditions
It is 13 years since my son was born. His due date was 29 February, but he waited until the clock had tipped safely into March, guaranteeing him annual birthday parties. In the delivery room, the midwife whisked him off to be checked over: he was a good size, a healthy colour and had fully functioning lungs judging from the enthusiastic crying – but his hands were unusual. Several fingers were joined together. They looked just like perfect baby fingers, with tiny nails and creases, but were stuck together like the pages of a book that hadn’t been cut. The midwife, putting on a cheery voice, said that webbing was traditionally a sign of good luck. But the paediatricians were less fanciful. The doctors who looked him over didn’t look at us; they talked to each other out of our earshot, and then suggested referrals to a plastic surgeon and a geneticist.
When we met the geneticist, she told us that there was one extraordinarily rare disease associated with syndactyly (the medical term for joined fingers). She had read up on it, and judging by the photos of patients in the research papers, she didn’t think our baby had it too. But she told us there was a blood test that would allow us to rule it out. Blood samples were sent to the US. Three months later, the results came back. Our son did have a genetic disease that affected just one in 10 million people; there were only a few hundred known cases in the world.