First post

[BeckyM80]

Hello. I’m 39, I was a dental nurse in the RAF for 8 years. I was diagnosed with MND for 3 years, found out a few months ago I was misdiagnosed, it took 2 years for this misdiagnosis.

[HarryB Administrator]

Hi BeckyM80

Thank you for your post. But oh my goodness, I am so sorry to read what you have been through. Can I ask, what has your diagnosis been changed to?

Best wishes

Harriet

[BeckyM80]

Cerebella Ataxia

[Hidden in reply to BeckyM80]

Wow it happened to me I was diagnosed with epilepsy at 22, then at 38 diagnosed with a gene test its not epilepsy it's Cerebellar Ataxia.

[wobblybee in reply to Hidden]

I was also initially misdiagnosed with Epilepsy, and it was very difficult to ‘shake’ the diagnosis off. Only when I started having falls did a GP offer any help with a referral to a Falls and Syncopy Clinic. Where a Tilt Table test result led to an MRI, which showed Cerebellar Atrophy.

[Hidden in reply to wobblybee]

Oh wow yeah, it's sad that people get misdiagnosed. It could lead to worsen health, that's great that you've gotten the right help.

[KiwiBob]

Hi, I was misdiagnosed for 9 years. I have been told by 2 consultants I have Ataxia and by 1 consultant possible Ataxia.

I am at Sheffield Ataxia Center at the end of the month.

I am hoping to get a final answer and have closer so I can get on with my life.

[ddmagee1]

I, too, have been diagnosed with Cerebellar Ataxia. It can be difficult to get the right diagnosis. For three years, the docs thought I had MS. Thank goodness yours is not MND. Best wishes going forward.

[Litty]

Welcome x

[EmWakie]

Hi Becky, I have CA too. I’m 35 x

[february]

Dear Becky, First of all, a HUGE welcome to you! You'll find many lovely people on this site for advice and support! I don't know if I can consider my diagnosis a misdiagnosis? 20+ years ago I was diagnosed with Sporadic Cerebellar Ataxia (unknown cause). I started having extremely minor symptoms at 43 years of age). Cut to the year 2017 when I had genetic exome testing. A single Niemann Pick C gene was found. Hence, I underwent a skin biopsy, then a blood test, which ended up being positive for Niemann Pick C (NPC) disease (it's recessive, which means I got it from my asymptomatic parents)! It was ultimately determined I not only have a single NPC gene, but an unknown variant as well. NPC is extremely rare, especially late/adult onset (I was 49 when diagnosed with Cerebellar Ataxia. I'm 65 now). Therefore, my ataxia is due to NPC disease. Case closed...,ha! My best to you..., ;o)