Trouble getting a diagnosis, any advice please.

[Grapes12]

Has anyone else had a problem with getting a diagnosis? And then finding out what has caused the Ataxia?

I have been told that I have an ataxia and am on the 100,000 genome project. In the past it has been mentioned it could be Progressive spastic ataxia. But no doctors want to do the investigations to give me an actual diagnosis. I have been messed around with lots of medical professionals and have been passed around alot! Without a diagnosis it is very hard to get any support e.g. Physiotherapy.

I'm still so young and just want a diagnosis/answers so they can give me a prognosis for the future.

Thank you

[HarryB Administrator]

Dear Grapes12

Thank you for your post. I am sorry that you are going through this horrid time.

I think you may benefit from a referral to a specialist ataxia centre. Please see the link below for further explanation about them and how you go about getting a referral.

ataxia.org.uk/Pages/News/Ca...

Even though the access to diagnostic tools for ataxia is much better at these centres I should say that this does not guarantee that a specific diagnosis/cause for your ataxia will be identified. There are still 40% of people with ataxia ( myself included) who do not know the underlying cause (I have been searching for over 25 years!). However rates of diagnosis are improving as more types of ataxia are identified and the 100,000 genome project is a great contributor to this. You will probably have to wait a long time for any results but it is absolutely worth being a part of. Fingers crossed you will get some helpful news at some point.

Harriet

[Grapes12 in reply to HarryB]

Dear Harriet,

Thank you very much. Will get my GP on the case.

I hope you have some answers soon and find out the underlying cause 25 years is a long time!

[Chris020485]

Hi my names chris, I also have spastic ataxia or arsacs whatever they call it. It’s took 5 years to get my diagnosis and now I’m 33 I’m still none the wiser. I saw professor nemeth at oxford and she gave me the diagnosis as Birmingham hospital wasn’t able too

[Grapes12 in reply to Chris020485]

Pleased to hear that you have a diagnosis but sorry to hear you are none the wiser.

[suzie44na]

Hi Grapes12, I have no diagnosis either after 22years. I went on the 100,000 genome project too, after waiting over two years they said I have a variant onPNKD gene but that is not the cause of my problems. Doctors do not help me either, they just pretend to. I was suppose to have a muscle biopsy to help with a diagnosis but that never happened. Hope you get an answer some day and so do I , I am not giving up.

All the best

Suzie

[Grapes12 in reply to suzie44na]

Thank you for your message. Sorry to hear you didn't get any answers from the 100,000 genome project.

It's awful when doctors arn't prepared to help.

[geneticallygeneric]

Sounds like you have a rare form of ataxia if you are on that project. Therefore look into genetic testing.

[Grapes12 in reply to geneticallygeneric]

Ok will do thank you