The day I was told that my newborn had a health problem is still fresh in my mind even though nine years have passed. The fear of the unknown. We underwent many different medical tests but the results always either came back normal or abnormal with unknown significance. We joined SWAN (syndromes without a name) UK when Roo was 18 months old and we finally realised we weren’t the only ones with unanswered questions.
Roo was put onto the Deciphering Developmental Disorders (DDD) study when he was three years old as his genetic consultant thought he had a rare, genetic condition that was causing all his issues. The months, then years went past and we had no word from it. Every time the postman delivered the mail I used to think ‘please let there be THAT letter’ but it never came. I soon lost hope in ever getting a diagnosis.
Almost five years passed when out of the blue we got an email from our genetic consultant asking if we could attend an appointment the following week as they had had results back from the DDD study! We were shocked and amazed as we had almost given up on ever finding an answer, but now it was possible we would get one. That week was one of the longest weeks ever and I hardly slept.
It was hard because we waited so long for an answer and then when we were told the result they said that the condition was so rare that they had no information on it and that we needed to wait until more research had been done which could be years. We were given the result in 2017 so three years have passed and we have more or less been left in limbo. The diagnosis has no name, just letters and numbers, there are no support groups and even Unique has no information on it.
Thankfully we still had the support of SWAN UK. There were other parents who were in the same situation as us and had no other support groups they belonged to. We went through a strange set of emotions – disappointment that the diagnosis meant nothing, frustration that it gave us no answers as to the cause of his issues and what his prognosis would be as he got older. But there was also a sense of relief. For years I had blamed myself, but the results showed that his genetic change was de novo, meaning it wasn’t passed on from myself or my husband. This also meant that our other children wouldn’t be carriers of the condition as it was a spontaneous mutation that happened as he developed inside me.