Next Steps?

[Jay1972]

I had my neurology appointment on Monday. The neuro compared two MRI scans and noted some degeneration in my cerebellar. Whilst looking at my second scan taken earlier this year, he said it was like looking at the brain of a 70 year old rather than 42!

I asked him specifically if it was ataxia and he was a little non-committal. He sent me for genetic blood test (he did write spinocerebellar ataxia on the form) and said that there were over 70 different types to test for and that only a handful could show up. He also referred me for neuro physio.

So, do I have ataxia or not? I guess I was a bit shell shocked about the degeneration between the scans to think clearly and ask!

I guess I need to wait for the results of the blood test!

[wobblybee]

Hi Jay1972

Strange isn't it, we long for an appt with someone who we think holds

all the answers and then when we get there, basically our mind goes

blank! Is it because we're simply overawed by these people and simply

don't want to question their opinion too much?

It seems that unless the type is either blatantly genetic (and recognised),

or the result of an injury or illness, the chances of pinning it down are

minuscule.

My own type is considered Idiopathic. I've had two MRIs and donated

DNA for research.

My mother had similar symptoms, this has preyed on my mind for a

while. But the first MRI I had showed a twisted blood vessel putting

pressure on the cerebellum, seemingly causing atrophy. Plus, as a child

I sustained a substantial blow to my forehead ( I was once diagnosed with

temporal lobe epilepsy), so what chance do I have of a definite diagnosis?

I've reached the conclusion that unless it's genetic ( I have two adult children)

there's not much to be gained by fretting about the type.

You need to bear in mind that not all types can be identified by a blood

test. I was told that the best I could hope for was that I had SCA6, because

more was known about it. I Know people with SCA6 will strongly disagree,

there are so many variations.

Best wishes Jay, hang on in there xB

[ciaranj123]

Can you get a 2nd opinion? I was diagnosed from an MRI, and then to make sure I had a nerve test ( involved sticking acupuncture needles in my thigh and running an electric current through to see if nerves reacted as expected) and brain function tests (involved staring at a computer screen for a few minutes while readings were taken to measure brain functions). I had a blood test, took two years to get results, which didn't show a cause of Ataxia. Apparently only 50% of genetic causes of Ataxia can be identified. This was 2006, I've had about 3 genetic tests since and still no cause.

I hope it works out for you, but don't pin too much hope on the blood test. Take the physio really, really seriously; it helps me a lot.

[harrysmom]

Hi Jay1972

I'd be shell shocked too so hard hearing information like that

Are your physically feeling different between the first and second MRI's in any way?

try to keep your nutrition up, focus on foods that do pass the BBB to ensure your feeding your brain

Do keep us updated hope the blood results show some answers

[Wyndham]

Hi Kay,

Blood tests are not a diagnostic tool to determine if you have Ataxia. This is determined from observing external symptoms such as how you walk, etc (Ataxia gait...), but mainly from an MRI scan. It seems like you need a second opinion if your Neurological is uncertain. Most neurologists are not Ataxia experts.

It might help to get in touch with Ataxia UK who can point you to a Neurologist who better understands Ataxia.

[Jay1972]

Thank you all for your helpful replies. I have joined Ataxia UK and I am looking at perhaps getting a second opinion from an Ataxia specialist.

In answer to harrysmom, yes I do feel very different. I'm a lot more unsteady and uncoordinated than I ever was (although I have always been a bit unsteady and 'accident prone' for as long as I can remember).

As always, I'm grateful to you all for your helpful advice. I wish you all a lovely Christmas and a great New Year!

[harrysmom]

Same to you Jay1972 take care

[february]

Dear Jay, i have Sporadic Cerebellar Ataxia (idiopathic/unknown cause. I was diagnosed eleven years ago, although I had very small symptoms starting about eight years before diagnosis. I've had an MRI every five years, the first being when I was diagnosed. The only thing that showed was atrophy of my cerebellum, all n my other tests (nerve/muscle, blood work etc.) was normal. Each MRI I've had shows a bit more atrophy of my cerebellum. I have symptoms 24/7, gait/balance, dexterity, speech , swallowing and vision. I hope you have a lovely Merry Christmas and a blessed New Year! ;o)