Sophie’s mother, Karina, told Ataxia UK about Sophie’s diagnosis of Friedreich’s ataxia, which was a terribly difficult time for all the family.
Sophie started having eating problems as she choked on her food at 11 years old. She was referred to the hospital for tests, all of which came back clear, so the consultant came to the conclusion that she had an eating disorder.
We were referred to the Child and Adolescent Mental Health Services (CAHMS) eating disorder team, where we attended for nearly three years for counselling. Sophie was still choking on her food, so it clearly didn’t help. We went to our GP to ask for a further referral back to the hospital because, at the time, her balance was affected and we were really concerned that something else was going on.
The new consultant at the hospital saw her and thought it was possibly puberty and said he would see her again in six months. At her next appointment with him he saw what we were seeing and also noticed she had nystagmus (involuntary eye movement) in her eyes and no reflexes in her arms and legs, so he called for an urgent MRI.
Despite this process being stressful enough for Sophie, this also took place in the middle of her GCSE exams. The consultant rang to ask us to bring her in for observation and a possible lumbar puncture. We were absolutely petrified by this stage but no one was giving us any indication of what was going on.
Sophie didn’t get her results from the paediatric consultant as she had, by then, turned 16 and was passed to adult services. We had to make an appointment there to continue the diagnosis process. The consultant was very abrupt and on results day, told her dad and I that we were only there to observe as his patient was Sophie. He then stated quite matter of fact: “You have Friedreich’s ataxia, there can be some heart problems which are fatal to some, so hopefully you aren’t one of them.” He then said: “there’s no cure or treatment and most patients will be wheelchair bound 10-15 years after their first symptoms appear, so you have a good few years yet.”
We were gobsmacked at his manner towards a 16-year-old girl. It left her with severe mental health problems afterwards. We had to comfort her for the months following, whilst trying to come to terms with what we had been told.
Luckily, we were able to change hospitals and now have a wonderful consultant who tried to help answer our questions and put us in touch with Ataxia UK.
We don’t know what the future will hold, but we are trying to make the most of every day. Sophie realises that she can still achieve her dreams; the only difference is that she may have to follow a different path to get them.