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Ataxia Support

Sporadic Cerebellar Ataxia, Just Diagnosed and Still Wondering What to Do

Hi There

I got a diagnosis finally of “Sporadic Cerebellar Ataxia”, and I felt a bit conflicted. The Neurologist said that insurance basically won’t touch the testing for SCA’s unless I can find family members with symptoms (they are very spread out part estranged/and about 1/3 are expired), so that will be a chore. He said even if I can find info to justify a case for a panel, that he feels that knowing is pretty much not helpful, that there is no cure and no treatment.

He therefore said “for now” as far as the title of my diagnosis goes, in case there is any other cause found. He already did panels for Celiac, Vitamins D, B-12, ruled out chemical and environmental causes, but he feels very confident that this is where it will stand. There has been a question about M.S. because of some visual issues, but I think that is the only thing he is questioning, he will see me in four months, and wants me to research family medical history thoroughly and get him any answers, and he will review MRI’s again before he orders more. He just wants to double check everything.

I don’t care what it is called, as much as knowing so I can find something to do about it. If I know, I can at least research. I do wish it could be more narrowed down, and seem to understand that Sporadic Cerebellar Ataxia is a more general category where ataxias that were tested and were unable to be classified with any of the existing 40 odd and counting SCA’s were parked, and those of unknown etiology are parked until they can be further defined, or proven to be genetic, and not secondary to disease or organic causes. Am I correct?

I should be super happy to get a general idea, given that he told me there’s not much to be done anyway, and he’s an expert who has spent most of his life researching this, but I want precision, so I can find out what, if anything I can do.

He spent the post diagnosis part of the appt. making sure I had an adequate set-up (shower chair, bars in the bathroom, first floor access, etc) and stressed that I needed to maintain physical therapy at all costs. He was concerned about swallowing, which I have had some difficulty with, and told me that is the most common thing that could shorten life span, was aspiration pneumonia/choking. He felt that with my living alone, that falls and choking were two things I had to be concerned with. So I will pay extreme attention with this new information in mind.

I dread writing my family, and will be getting to that this week, I can think of a couple of key member, elders who might know who had what. Other than that, I have to focus on physical therapy.

I feel lost, and theres not much to do but get back to doing stuff, and be proactive. I would cry but there’s no tears (I had a 30 second cry in the restroom at the doctor’s office, but I had to just stifle it). I think I will start a painting to release some of this balled up emotion.

Okay, done venting. Thanks for listening to my rambling, whoever you are!

RawrRawr

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:slightly_smiling_face: Hi, and welcome! I’m Beryl, It’s been a while since my diagnosis but I can well recall how devastated and confused I was. It had taken many years just to arrive at a diagnosis of Idiopathic Cerebellar Ataxia, and having somebody acknowledge my symptoms were real, made such a huge difference to me, I’d almost reached the point where I thought it was ‘all in my head’.

I live in the UK, so testing was done via our National Health Service. Although it didn’t cost me anything at the point of testing (we have insurance deductions from weekly/monthly salary), only the more common types were tested for, and since they were negative, I was no further forward as to finding if the cause was actually genetic.

Since then, I donated DNA for a research project, and found I have a link with a mutant gene, SYNE1, although this wasn’t greatly helpful because the link was less than 100%.

Initially I was told to exercise within caperbility to keep my muscles intact, this was very good advice but at the time I didn’t take it seriously because of not knowing much about the condition. But now I can really recommend following this advice.

As far as wondering what to do is concerned…there isn’t any specific recommended therapy or medication for ataxia. So, exercise (maybe a referral to a Neurophysiotherapist would be beneficial), ensure you have a good balanced diet, avoid stress and multitasking whenever possible, and above all keep yourself safe when moving around. Involuntary swallowing (saliva going down the wrong way) can be a problem, and lead to choking incidents. When it comes to food and drink causing swallowing/choking issues, a referral to a Speech and Language Therapist can be helpful. They can advise on swallowing techniques, and there are various thickeners that that be added to food and drinks.

Its’s only natural to get emotional when it comes to coping with ataxia, we can read facts about it but no-one can predict the exact course it will take. Most people find they experience very similar symptoms, but the rate of progression, and severity of symptoms can vary enormously. And it’s important to recognise that depression is very common, it can really impede coping with symptoms, but help is available.

Remember, all of us in the group are experiencing, and coping, with almost exactly the same symptoms and challenges as you yourself, there can’t be much we haven’t heard about before. We all need to vent our feelings, it’s so much better than bottling them up, don’t hold back if you want to comment on anything, or ask a question :slightly_smiling_face:

It can often be very helpful and encouraging to join a local Ataxia Support Group, because face to face contact makes a huge difference. Click on the interactive map on the link to find contacts state by state :slightly_smiling_face:
[https://ataxia.org/support-groups/]

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Hi Beryl,

Thanks so much for your long and detailed reply.

I did reach out to the ambassador in my state, he was confused about why he was on the list, said he couldn’t help much, and there were no meetings that he was aware of. I am no on facebook so won’t join the group in our state, but cam still reach out to the lady who runs it, and the other lady who is a contact.

I do have a neuro physiotherapist, I am quite lucky. I am allowed 30 visits per year.

Getting a comprehensive panel for the common ataxias is currently $15, 000, according to my neurologist. He thinks it will decrease and eventually insurance will cover it, but not anytime soon. It’s not lucrative for them.

What study, may I ask, did you donate to? I assume it’s way to late, but do you know of others? That certainly sounds like a good way to narrow down what it might be, while helping science at the same time.

I am frustrated that we can test our DNA, find SNP’s, but seemingly cannot count repeats through any of the current testing companies. I used 23andme, and they specified that one could not use it to identify mendelian disorders. I am a bit fuzzy about why, if the info is purposely blocked, or what. Maybe you know?

Yeah, I do feel like I need to do something to release the emotion. Physical therapy in a bit, then more painting.

Thanks again for responding. I am sorry to hear you are in a similar situation, but I feel better knowing I am not alone.

:hushed: RawrRawr, I have to say I’m less than impressed by the response from the NAF Ambassador. And, if you find your location is nearer to a group in another State, I’m sure you would be very welcome to join them.

A few years ago I was invited to join a study that was local to where I live in the UK, where we have a Regional Genetics Centre. It might be worth you looking on www.clinicaltrials.gov…search for any trials under Spinocerebellar Ataxia. Quite often they restrict a trial to specific types of ataxia, but it’s always worth having a look. On Facebook, when I see posts about studies asking for volunteers, I usually post them here, so it’s worth logging on now and again to keep an eye out :wink: But, it is important to know that not every type is actually genetic or a SCA (Spinocerebellar Ataxia) sometimes people commit themselves to thousands of $$$ and find that a complete panel still comes up negative.

I’ve seen posts from others who have used 23andme, but the majority of people seem to go with Athena Diagnostics.
[https://www.athenadiagnostics.com/]

I’m glad to know you can still enjoy painting, we all need a form of ‘mindfulness’ for the want of a better description :slightly_smiling_face: Just before my symptoms became especially troublesome I enrolled as a mature student, and took several courses including Art &Design and Fabric and Textiles. I thoroughly enjoyed them, eye problems (ataxia related) eventually got in the way, but I managed to finish the courses :slightly_smiling_face:

I’ve had Ataxia probably longer than anyone here. I’m not bragging but complaining. I’ve always exercised not only because that’s who I am but have found out that it’s very important not only to keep your muscles and joints strong and viable but that it also helps very much to diminish stress. Constant stress is just not bad for the overall body but is a major contributor to depression. SO, my suggestion is just do it even though it’s not your regular thought. Become a member of a gym where others are also exercising. Then it becomes a social thing as well.

Hi Chas,
Thank you for posting the suggestion about gym membership. I think the socialization probably provides a lot of support and sly accountability. I have that as a member of a therapy pool, but not a gym, I’m sure the social dynamics would be completely different, as would the workout.

I’ve had this 18 years and stopped worrying about exactly which SCA I have (not yet identified) except that drug companies are now developing drugs. Without a specific gene I can’t qualify for a trial so getting the genetic testing done is worthwhile. I have yet to find a doc that knows as much about this as dr. Perlman at UCLA. She is working closely with the drug companies searching for a cure. Its worth plane fare to go see her. Exercise & doing what’s needed to avoid depression is my best advice. I’m living alone and do oil painting as well. I fall. Sadly its part of the deal but am happy with my life. Choking too but I seem to manage it. Apple watch saves me when I fall—its fall detection really works well. Oh and for nstagmus, which I have, a good neuro-opthamalogist is really a requirement. They are hard to find but worth the search. If insurance doesn’t cover genetic testing, UCLA may be able to pick up the cost. They did for me. They have one of the best genetic testing facilities for this anywhere. Keep painting! Great therapy. :blush:

I have idiopathic Cerebellar ataxia but cant add much to previous replies.
If its any consolation, I have managed to keep my muscles working by exercising at home, I am 77 in November so energy levels are very challenging. best wishes, Patsy

Hi Maryseas,

Thanks for all of the tips. nice to meet another artist as well!

Cost is always an issue, I do wish it were more narrowed down, I have children and a grandchild, and it’s very important for them to know.

The apple watch sounds interesting, I will look for some videos, because I’m imagining something that is hyper sensitive ( when I bang my arm on the table).

I have two panic buttons for falls, one in my bedroom by my bed, the other in the bathroom. They call 911. If this is what an apple watch would do, that might be a disaster. I have had two false alarms here, and think the potential for this increases exponentially when a device is worn on the wrist.

I like that UCLA helps to fund genetic testing. Barrow Neurological Clinic does not do that.

They have a large section of the clinic that was funded by the late Mohammed Ali, who died of parkinsons I think? The walls are covered with his photographs, paintings, and his boxing gloves are in a case. It’s a little museum! But anyway, their gifts most certainly fund the Movement Disorder Clinic, which is named after him.

There are things like mini- fleets of identical walkers for a Parkinson’s clinic for newly diagnosed patients that are paid for, but they can’t cover genetic testing yet.

They have several studies that one may or may not qualify for on a large brochure rack, and I can look for these when I return. I keep hearing about random testing available here on this board, I looked at the US site and saw nothing at this time, but will keep trying.

I go to a funeral Sunday for a first cousin, it’s not an appropriate time to ask about family history, but I am just hoping someone offers up info about family there. One aunt and several cousins will be attending. She was 56, had numerous falls and broke some bones, and had been overweight, died from pneumonia at home. She was a believer in homeopathy, so never had a proper medical workup and refused treatment. Sad because if she went to the doctor she should/ could have lived another 30 years.

Hi Patsy,

Thank you! You have added a lot. I want to know what to expect and to hear from someone like yourself who has remained active and has a good outcome is very encouraging. Advice taken!

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I hoped you would think that as I remember, 10 years ago, feeling encouraged by seeing older people coping. Mostly, it is a very slow progression but keep exercising that’s the key. x

Hi RawrRawrLadyPerson,

I love my watch and its cheaper than fall buttons overall. Its an extra 5 mo beyond my iphone plan cost and it has its own cell phone so if I’m away from my phone outside it can still make calls. I hit my arm too, but it has a feature that vibrates my wrist and asks if it should call 911. I say no of course. Taken hard falls a couple of times and it caught both. If I’m knocked out it will call 911 and notify my kids! Its also waterproof so I wear it in the shower and swimming and in bed at night while I sleep. Only problem is finding time to charge it. It has an EEG monitor, heart rate monitor, and assesses the quality of my sleep. BTW sleep apnea is common with us so get it checked out. Quality of sleep makes a huge difference in your life. My kids give me air miles to go to UCLA and they have a hotel for patients just blocks away with a van. Ask about it if you make an appt. My local hospital (OHSU) has a big parkinson’s movement clinic—its not the same as ataxia and the docs don’t stay up-to-date on what’s happening with ataxia. They just want my . UCLA has the latest info and what’s happening with the drug companies is exciting.

My mom was diagnosed and I recently discovered my grandma likely had it from reading an old letter. Falling in your 50’s isn’t normal so there’s a good clue. Don’t expect to find a diagnosis in your family as they’ve not been able to diagnose well until the last 30 yrs or so. Look for symptoms in family members. When my mom was diagnosed, MRI machines weren’t used. My MRI is still looking normal. And no confirming labs. I’m diagnosed strictly by observing symptoms. But mom had it and now my brother too.

Stay on top of all the aging stuff, blood pressure, diabetes, heart, and apnea and dental stuff (really important) and you can have a great life.

Mary Englund

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IT HAS A LOT OF INFO ABOUT A TEST THAT IS GOING ON FOR SCA

I AM FROM AZ TO WE LIVE IN MESA. MY WIFE HAS BEEN FIGHTING THIS DISEASE FOR THE LAST TEN YEARS. PLEASE LOOK AT " Third test of bhv-4157".