Hi just wanted to thank you for sharing your page. You’re very brave. I found it after searching ‘cerebellar atrophy’ which we have just found out our son henry who is 4.5 has.
I read you don’t yet know the underlying cause. Neither do we. What are your daughters symptoms? When did you know something was amiss?
Henry was fine & met all his milestones. At 18 months he still wasn’t walking so we took him to our gp. That was 3 years ago now and his had numerous bloods, chromosomes, Ataxia gene panel, lumbar puncture all were normal.
He had an MRI at 2 which was normal. And another in march this year at 4 and was told it was normal. However on second opinion from gosh we have just found it does show CA.
I’m devastated. We have to wait a year for another scan to see if any changes. He is already on the 100k study. But they are going to do a mitochondrial gene panel & muscle biopsy.
He did take his first steps at 33 months. He walks with a walker now but is wobbly and falls often. He has Ataxia, hypotonia, hypermobility, brisk reflexes. He has strabismus (squint) and nystagmus (jerky eyes). A mild speech delay and overall delay but otherwise his cognitive and understanding are good. He hasn’t regressed and has made a slow steady progress. All symptoms indicate his cerebellum but I can’t understand the deterioration seeing as he made progress.
Well thanks anyway for letting me rant on.
I wish you and your daughter all the best x