ARSACS Autosomal recessive spastic Ataxia of Charlevoix-Saguenay

Hi, my daughter is 20 now and she finally got her definitive diagnosis of ARSACS approximately 2 years ago. It is a very rare type of Ataxia of which there are only approx 20 diagnosed in the UK at the moment.
I would love to talk to anyone who either has ARSACS or who has a family member with it?

I was recently diagnosed with CS, after living most of my life thinking I had cerebral palsy (now 46), but after a deterioration in my health, namely the tingles in my hand my GP referred me to my local neurologist, who instantly thought I had Friedrich’s ataxia, which my partner & I found very upsetting due to the more aggressive nature of FA, but after numerous tests confirmation came that i had peripheral neuropathy,and cerebellar ataxia, my blood was then sent to Cambridge for further tests and after nearly 12 months confirmation came that I had Cerebellar Ataxia of the Charlevoix Saguenay type, which finally meant my family, partner & I knew a name. After much googling, I was very surprised to find out how rare my condition is
, and after seeing the Ataxia specialist Dr DeSilva at Queens hospital, Romford, London he was very interested in me. My partner & I finally met him on the 29th of November and he mentioned how rare our condition is, with no more than 23 or 24 nationwide but he told me he had a woman attending his clinic who also had CS, but he did point out the other persons symptoms were different in the sense that peripheral neuropathy was my main condition, but I will be seeing him again in a few months after he reviews my test results and orders further tests,

Dr DeSilva was trying to explain how the gene error may have occurred, as I have 1 biological brother & 2 half sisters all unaffected, guess i was the lucky one!

Anyway, it would be great to find out more about your daughter symptoms and how they compare.

Julian Pucci