How do you know what type you are??

[AtomicBubba]

I was diagnosed a couple of years ago with severe cerebellar atrophy (ataxia). I’m still awaiting DNA results..will that tell me if I have SCA and which type?

[Stanleyclan]

Hi...my husband was diagnosed Oct 14 and we are still none the wiser as to which type! Joined the Genome project Nov 15 but still no results. Think it's a common story. We just know it appears to of been inherited from his mum but neither of her parents were known to have it.......I chased every possible test for the first two years. ....given up now. Unless they find a cure for some....then I'll want to know if he has that type!

[rankin1st in reply to Stanleyclan]

Hi what's the geome project? We were tested for some genes but came back negative but am wondering if maybe a different strand as both Father and son have very similar issues and balance really went pair shaped in 50's off to Sheffield Wednesday for update so might be useful to be put in trial or something is that what geome is? Heard it mentioned a few times on the forum. Thanks

[icdowsettNZ in reply to rankin1st]

I recently went genetic testing and it turns out I have type 42. This gene was discovered in 2015. I was diagnosed with spinocerebellar ataxia 48 years ago when I was 30 yrs old.

In New Zealand the blood is sent to Melbourne to test first and after testing for five types is then sent on to Perth. So it took 12 months in all.

But it means that research is ongoing and our children can now find out their future.

Ivan Dowsett, New Zealand

Ask your doctors if the NHS would finance testing.

[AtomicBubba in reply to rankin1st]

Genome project is a research project where they tale a sample of your blood and test the dna so see if they can pinpoint the ataxia you have etc.. it takes up to 2 years for the results. Ask your dr Wednesday and good luck 😊

[rankin1st in reply to AtomicBubba]

Awesome thanks atomic bubba appreciate that will ask Wednesday.

[Stanleyclan in reply to rankin1st]

It's where they try to map your whole genetic make up to find abnormalities. Just a blood sample.....taken by the geneticist at St Thomas I seem to recall but if your under one of the Ataxia centres they should be able to advise?

[rankin1st in reply to Stanleyclan]

Many thanks Stanleyclan

[pollybanana]

Do you have to be referred to an Ataxia centre to have genetic testing? My neurologist asked if I wished to be referred but I am not sure. As she pointed out, knowing would make little difference to the outcome and I have no children to pass it on, but part of me still wants to know.

[rankin1st in reply to pollybanana]

No our local Neurologist sent ours off for genetic testing but no counseling or talking about it with them just sign this paper here sort of thing. Reckon ataxia centre would have better practices in place like offering counseling so might be better route?

[SamGH]

Cerebellar ataxia has about 40 % of cases as idiopathic or unknown. This means medical research just cannot yet classify a 'type'

[AtomicBubba in reply to SamGH]

I bet I’m one of the 40% 😢 I just want some answers 🙏🏻

[SamGH in reply to AtomicBubba]

If you are. It's ok. There are others your not alone

[AtomicBubba in reply to SamGH]

That’s what I’m slowly realising from this website. People who really understand and it’s so comforting 😊

[Guyb in reply to AtomicBubba]

I’m the same been waiting for years for test results at Sheffield

[FFNick]

Had a blood sample taken and tested in Manchester UK by NHS for free. Neurology consultant tried to contact me with result by phone with caller id blocked. Err no. His letter explained all and gave result. All within 6 months.

HTH

[AtomicBubba in reply to FFNick]

Lucky you!! Year and a half later Still waiting.... what was the outcome if you don’t mind me asking?

[rankin1st in reply to AtomicBubba]

Assume you have followed up sorry if stupid question

[AtomicBubba in reply to rankin1st]

It’s not stupid. Apparently it’s a slow process because it’s a research project! But I see my neurologist in the new year and he’s hopeful we’ll have the results 🤞

[rankin1st]

Yes let's hope you get some answers

[wibblywobbly]

hi, i was diagnosed in 2010, several years of difficulty before that too. I don't know what type i have, except that it's genetic. The specialist i see says my symptoms don't match any of the main types exactly, so they haven't done any more tests for years now. It used to really bother me, however until there's a treatment it really doesn't make any difference, and from this site i see that there are many people in the same boat. I have two children in their twenties and for now i think the most important thing is to demonstrate that you can be happy with this illness. They have a 50% chance of getting it! I pray to God that they don't get it.

i don't think knowing really makes that much difference. However when a treatment becomes available i shall be stamping my feet at the Drs.

take care

Alison