Diagnosis??

[Fortoday]

Hi all

How is Cellebella Ataxia diagnosed?

Is it common for Ataxia people not to be able to get diagnoses?

Thanks

Angela

[wobblybee]

Hi Angela🙂 I don’t have a definite diagnosis either, and we’re far from being alone in not knowing.

There are said to be between 50-100 types of ataxia identified, some will be genetic (mostly SCAs - Spinocerebellar Ataxias) and for people who fall into this category it can be quicker and easier to find the exact type.

But there are several other types of ataxia, and the road to diagnosis can be lengthy and frustrating.

There are many of us diagnosed as having Idiopathic Cerebellar Ataxia...

I started off in the mid 1990s with a misdiagnosis of Epilepsy, and it’s been a difficult diagnosis to shake off. Even when other questionable symptoms kicked in I found my GP was adamant that the diagnosis was at the root of my problems, she said ‘she had tested for everything’ and it caused me to have deep depression.

It was actually a blessing in disguise when I started having falls, then my GP was forced to take some action. I was sent for testing at a Falls & Syncopy Clinic, and things moved on rapidly from then on. An MRI showed I had Cerebellar Atrophy, that combined with my symptoms led to a change in diagnosis.

It is known for some people not to have Cerebellar Atrophy, and in these cases diagnosis will be made according to the history of symptoms.

[Fortoday in reply to wobblybee]

Thanks v much

2 MRI s

Lubar Puncture

Nil

Odd consultant on route said Cellebella..but not seen in test

Need to know WHAT it is if can

Graphically unstable etc and much more

A

[Jingle1967 in reply to Fortoday]

What’s your experience of lumbar puncture?

I was diagnosed last December. Have had 2 MRIs, which show cerebellar atrophy. I’ve had blood tests to check genetics, these have come back clear so far, so they’re testing for rarer conditions. It was suggested by my Neurologist that if they’re clear, a lumbar puncture may shed some light on matters. I’m not so sure if I want it as I’ve read various thing that aren’t supposed appealing.

[Fortoday in reply to Jingle1967]

I found it dreadfully painful AFTER due to pressure headache! Aftercare critical....if id had diagnoses wouldn't have had it

[Jingle1967 in reply to Fortoday]

That’s what I’d read. And also that’s it’s recommended you lay down for 24hrs after the procedure. Think I’ll avoid it.

As long as it’s not genetic and my family aren’t affected I feel the cause of my ataxia is kind of irrelevant. Whatever the reason, the condition remains the same and it makes no difference regards treatment/cure etc.

[Fortoday in reply to Jingle1967]

I have come to that same idea...for me on sight is v clear and OBVIOUS

Good luck

[Ss4114 in reply to wobblybee]

90’s how old are you and how what treatment are u on

[Fortoday in reply to Ss4114]

60

No treatment

What is there??

Barely able to stand now

[majajefferies]

Have they included you into 10000 genome project? It is meant for people with undiagnosed conditions. It is lengthy but at least you might find out.

[Fortoday in reply to majajefferies]

Will ask thank you

[Fortoday in reply to majajefferies]

Is it closed now?

[majajefferies in reply to Fortoday]

I am not certain, but I would definetely request a whole genome panel to be done (in addition to the stabs in the dark they do with specific genes for ataxias they are aware of).

From the people I’ve met, it seems to me that quite a few people with diagnosed ataxias have diagnosis of other genetic issues.

It took us two years to get a diagnosis of DRPLA (a SCA which is quite rare) for our son, even though his grandfather died with a diagnosis of “Cerebellar ataxia”.

We fought GOSH tooth and nail for a precise diagnosis, we asked for a second opinion from King’s, we put plans in place to fly out to have him fully re-assessed in the Mayo Clinic...

Please, don’t be discouraged or allow them to fob you off, you can’t fight “undiagnosed progressive neurological illness” which was our son’s label for a long time and it would have stayed so if we didn’t push and threaten and argue.

You are not here to make best friends with your clinician (wouldn’t that be swell?) but to fight for your life, so, demand what is rightfully yours, an opportunity for all the medical knowledge/advancements to be used to keep you as healthy as possible for as long as possible. Funding be damned!

Good luck!

[12monkeys]

It took 2 years, 4 mris, 5 lumber punctures loads of blood tests and many many appointments with every specialist there is. No definitive test, mainly a checklist of wot it isn’t and lots of physical exams with neurologists

[Fortoday in reply to 12monkeys]

Gosh understand the journey

[Litty]

Everyone is different!

I inherited mine from my dad. I have SCA1 (the first hereditary ataxia they found).With hereditary ataxia you test families - very hard for everyone and now you can try genetic IVF xx

[Fortoday in reply to Litty]

THANKS litty

[1940girl]

I have CANVAS, the main part of which is ataxia, my DX was found through genetic testing, took 6 yrs but finally got there

[tedjohnson in reply to 1940girl]

Hi 1940 girl. I, too have canvas and have been told there is no cure (like normal Ataxia !!) I would be interested to hear how it is effecting you. I can’t walk, my balance is bad speech fairly normal except at odd times. Eyes and sight troublesome head not too good but hay hoe we all try to keep cheerful and work on the.positives

Take care. Ted

[Fortoday in reply to tedjohnson]

Hi Ted ditto to you...majorly falling though...v unstable

What is the treatment if any? Physio??

[Psychosarah in reply to tedjohnson]

There is no known cure to any ataxia!!

[Fortoday]

Best wishes

[Hidden]

Hi, I’m fairly new on this site too, it’s a massive help just finding people with same symptoms as me! Have to say, diagnosis was very difficult- three different doctors who I told my symptoms to- not a clue!! Went to a neurologist and he didn’t give me any difinitive answer. Had mri that showed very tiny dot on brain but he said most people have the odd tiny anomaly and it was so small I couldn’t even see it on the pic! He was an ms and Parkinson’s expert and ruled those out but didn’t think a lumbar puncture was worth it for me as he said it’s not a pleasant procedure! Went to a sports physio who told me I had ataxia within 5 mins of meeting!!Really think doctors need educating on this as the three at my surgery were clueless (or patronising- it’s because you’re stressed- really???) I wish you all the best. I think for all us ataxia sufferers, it’s a long process in finding out exactly what and which we’ve got and there are not enough experts in the field to help. Mine I think is idiopathic. As it can’t be cured I’m just going to get on with my life as best I can and keep active as much as possible- core strengthening exercises definitely help me.

[Fortoday]

Totally agree

On sight with me all is clear.

Need more help to be understood in major nhs practice

Keep moving!

[Stanleyclan]

I found the neurologist was more than happy to just tell my husband he has Ataxia 6 years ago (aged 36) due to his gait and some family history......meant no second child, no life insurance when we bought our first house, not a day without the worry and fear ... but actually no real diagnosis either. Lumber puncture, mri, blood tests, genome sequencing.....nothing....he buries his head and i got tired of fighting for answers. Feels like a hopeless quest and all the specialists could offer was advice on non slip trays and non spill cups....which he still manages without.

[Fortoday]

I TOTALLY identify..wish your family strength

[Psychosarah]

Seems to me it depends on the knowledge of the GP to raise ataxia as something to be looked at. My mum finally received her dx of SCA 6 after about 15 years of misdiagnoses. They initially thought agoraphobia, mini stroke, anxiety, then nothing as it was "all in her head" until she got a new GP who had a special interest in ataxia. He recognised the symptoms immediately and requested the blood test which diagnosed her.

I know have had a predictive test and too carry the abnormal gene and will too develop SCA 6. So the road to diagnosis for me will be smoother due to knowing it now exists in our family.

[PW18]

I've found this useful in giving me more confidence in my non-diagnosis.

A practical approach to late-onset cerebellar ataxia ...

Hopefully you can read it at

drrahiminejad.com/Files/MyD...

It helped me eliminate all the other Ataxis known at the time so I no longer worry but just deal with what I have - and that applies to my family too.

[Fortoday in reply to PW18]

Printed it off

[Fortoday]

Thanks v much

[Jessie70]

Hi. I’m 50. I was diagnosed in May, 2019 after 12-15 years of steady decline. I’ve had neuropathy, well I was going to list all of my misdiagnosed conditions, but really, who cares? Not me! My husband was tired of the run around and scheduled me to see several neurologists. The very 1st neurologist out of Northwestern University diagnosed me by an MRI from about 10 years ago. The atrophy is so obvious to me (not medically trained) She asked if my neck hurts. ALWAYS! I thought that’s where I carry my stress. Nope. Cerebellum ataxia, cause unknown. I’m basically on a downward spiral. Falls, fatigue, pain, etc. I haven’t had additional tests. They have my blood and are free to continue searching. They’re not going to find the cause. I have 3 adult children. They cannot find anything to label it genetic. I’m grateful and I’m accepting of my results. I don’t think they count head trauma. I know my life and I know how many times I’ve had some “head trauma “. I believe it’s symptoms that drive my prognosis. I hope this helps. Have a great day!

[Fortoday in reply to Jessie70]

THANKS v much

TOTALLY similar run around...terrible

Doesn't help us

Im distressed by my decline

Keep as well as you can

A