Neurogenetics

Today I had an appointment with Dr Tofaris at the Neurogenetics clinic at the John Radcliffe hospital.

Honestly I was apprehensive. There is no cure for ataxia so the main thing is altering your lifestyle and if needed treating the symptoms which works to a point.

My other concern was that the type of ataxia they believe I have is so rare they cannot predict how it will develop.

My immunology team are currently looking at my DNA, genes and mutations to see whether they can give me some more answers and have so far identified two variants in the gene called SAM9L Patients with mutations in this gene  have been reported to have ataxia pancytopaenia syndrome.

It ended up being a brilliant and really useful appointment, I will see Dr. Tofaris once a year unless I request to see him more often. The thing with ataxia is there is no cure so only managing of the condition and treating some of the symptoms.

I did lots of tests and even discussed things that may or may not be attributed to the ataxia such as my toes.

What has been confirmed is that the ataxia was the reason i could never hop, ride a bike or play games involving catching or hitting a ball.

I also saw Prof Nemeth who is a clinical geneticist with a special interest in ataxia. She has suggested getting all my consultants together to discuss me as I am such a rare case.

We talked about how my symptoms are developing, what I have in place to help me and future plans.

So whilst it might not seem to you much was achieved for me it was a really good appointment and reassures me the doctors are on track to keep getting me the best care possible.