Diagnosis

Hi Everyone I am brand new here, just signed up yesterday. I am 54,and had a "working" diagnosis of CA for the last 2 years that was finally confirmed by my 3rd MRI last November which did show atrophy. My two previous MRI's were unremarkable. I have had balance problems since 2005.

They have only referred to it as Cerebellar Ataxia without anything more specific as to the type. Do I need to find out more specific info, and how is that done -blood work? I have one daughter through adoption, so heredity isn't really a concern for me.

If there is no treatment and no cure, I'm not sure I see the value in trying to pin this down. Plus genetic testing can run into thousands of $ and I'm still trying to pay bills from 2 years ago.

Please give me some insight here... Cyndi

Cyndi,

Unless you have a family history, there’s probably no need for further testing. (In my opinion) Since there is no cure, the type you have is really not necessary to know. Many people, like me, have sporadic (non-hereditary) ataxia, and testing is not really going to reveal any additional information.

Good luck!

Kathy

I dont agree with Kathy. I think it's useful to know, if possible, why this happened to you. Maybe you can be treated somehow.

Hi Cyndi, I agree with Kathy. I was diagnosed in my late 50's. I am 70 now and still walking with two sticks. My speech is indistinct when tired but not slurred.

I have had all the tests as they are paid by NHS here in UK but it has only been of use for research purposes enabling the ataxia centres to compile meaningful statistics. It hasn't done me any good.

The best policy is to eat healthily, exercise and keep your spirits up. It's good to join a support group and come on here to discuss feelings as friends and family don't understand as well as we do.

Take care, Patsy

Hello,,,,I see you are from South Elgin...I am in Oak Forest, about 40 miles from you. I run the Chicago ataxia support group, which meets in Downers Grove. I also run The Fight Ataxia Project, A non profit which raises education and awareness, and also helps to fund research. I am 58, and was diagnosed with an unknown type for 18 years. Last year by chance, I was confirmed with type SCA 15. Nothing changed, life is no different, and I am no better off. About 15 members of my family are/ were affected. Knowing the 'flavor' you have in my opinion is of no value. There is no treatment for any kind, and the older you get, the less it matters, as ataxia is also a part of natural aging., If you have no family history, it is 'sporadic', meaning the medical community has no clue, and treatment is zero anyway

Hi Cyndi,my MRI came the same as yours although my mother started showing signs of ataxia in her 40s and my younger brother in his 30s.I have never had a genetic test nor my brother or mom,my mom passed at 76 and used a wheelchair at the time of her passing.My brother is 51 and has balance problems like me but worse,i'm 60 and am now on SSDI.I lived in Ca. near San Francisco for 50 years,i now live in Mn.,I believe there must be some kind of genetic ataxia on my mom side.Take care and if a cane or stick help,use one,i use a cane if my balance is off and i have a cane chair if i am in a place where i have to stand for an extended time,i also have a very bad lower back problem so the cane chair is very handy...Dave

I am adopted and have one adopted daughter and one biological daughter. I did the genetic testing and they are negative so luckily the biological one has no signs of ataxia. Dr. Christine at UCSF does not think I have MSA but my MRI shows hot cross buns and cerebellar atrophy. I will go for a tilt test , autonomic testing at Stanford and a sleep study ( I apparently talk in my sleep sometimes ) and have always been tired.

Hi Cyndi, a huge welcome to this site! I was diagnosed 10 years ago with Sporadic (idiopathic) Cerebellar Ataxia. It effects my gait/balance, dexterity, speech and swallowing. I also have sleep apnea and use a C-Pap machine. My neurologist said many people with ataxia also have sleep apnea (something to do with the muscles and breathing). I am now 59 years young, diagnosed at 49, although I think I had small symptoms starting in my 40's. Although there's no cure, i've always been curious as to why I got this. I also think genetic testing, although no cure for me, may help someone else in the future (research), and I'm all about that!!! No one in my family as far back as we know had/has ataxia except me. I've always kiddingly thought of myself as "special"...,ha! Anyway, I had genetic testing last year for the known recessive ataxia's, which was negative (my insurance covered the cost).. My current neurologist would like me to have genetic testing for the known dominant ataxia's. Currently, his physician assistant is checking my insurance coverage. If it's covered, I will, if not, I won't, as it's expensive. I have two children (grown) I had before I was diagnosed with ataxia. I also have two young grandchildren, 3 yrs and 1 yr. I'm on the fence as to what I'd do with information if I found out this was hereditary. This is only MY opinion, as everyone feels differently, and I respect that 100%. I've also had 3 MRI's in ten years which show progression of my ataxia symptoms. I already knew that even without the MRI's as my symptoms have gotten worse. I use a cane (3 yrs) to give me more stability and prevent falls. I've had blood work and a nerve/ muscle test (EEG??) which was negative for common things that cause ataxia and neuro-muscular diseases. Therefore, my gut feeling is my ataxia is truly "sporadic". I live in the States. If possible, talk with a genetic counselor. Hope you find this site helpful, as there are wonderful people that can offer support and understanding! My best to you...,;o)

I wanted genetic testing to be able to talk with my children about this. I was diagnosed with SCA early on, but none of the testing or MRI'S verified this. My doc was simply looking at symptoms and felt certain. I wanted to know, but realized that there was no treatment so didn't care what the docs called it for a while. My docs at OHSU refuse to define this as anything other than Hereditary Ataxia since there is no lab work to back them up. I had to show them the early diagnosis from a doc who teaches at their school. It didn't matter until I could no longer work and needed social security. Then having docs who sit on the fence were a real problem. Social Security will approve your claim first time IF you can prove SCA. I couldn't so went to one of their docs who thankfully agreed with my earlier doctor and said I probably do have this. The claim was approved. Get good documentation for the time when you will need social security. Get and keep copies of all of your doctor visits in your own personal file, and keep copies of the actual MRI's (disk). The doctors all archive this stuff and in some cases the records are destroyed after 7 years.

Wow - thank you all. I am currently working and still driving, but my speech is definitely affected and my handwriting is horrible. Taking notes at a meeting this morning was laborious! I 've used a cane for 2.5 years now and have recently gone to a walker. I have a three wheeled one that my church gave to me and that I can easily get into my car, a 4 wheel one that I purchased to use here at work, and a static aluminum one that my mom had at the nursing home before she passed. I use that one at home.

Thank you Maryseas - I will keep good records. I know I am headed for SS disability, but want to work as long as they will let me. I will have to move at some point too, smaller and single level dwelling. I am making accomodations for the disability where I can, and functioning as well as I can day by day. :-)

My insurance only covers genetic testing if medically necessary - so this does not qualify since a further narrowing of the diagnosis would not target treatment. I would only use this info to participate in some of the clinical tests that are conducted since heredity is not a concern with my not having biological chilldren. But a clinical study would have to do that screening for me- and then I would be happy to participate.. Thank you all for confirming my leaning towards no genetic testing since I don't have the $ for it.

While there is no cure, I have read from others that certain symptoms can improve if it is a gluten ataxia. I dont recall the exact name for the test (gluten tolerance or gluten antibody?) Much simpler, cheaper than the genetic. and the result may be worth knowing. Whereas a modified diet may help.

I did read a book called "Wheat Belly" and chapter 11 was all about wheat's afffect on the brain. I went gluten free for 4 months and did not notice any difference. But several other dicsussions have mentioned it - so I am trying to go gluten free again... I figure it can't hurt.

I also saw a you tube video on coconut oil and dementia/alzheimers. That looked encouraging, too. Even if it doesn't work for me, I have nothing to lose in trying it.

Cyndi,
I am still trying to figure this all out, but I am glad I had the testing done. It did cost big $, but now I know that I am sca6 and I know what I am dealing with. Plus if any of my family want to know or show signs, they only need the sca6 test instead of the whole series that I had to do.
If you are comfortable with your situation then maybe you should hold off on testing. I just know that I have a certain level of comfort knowing what the heck is going on in my head...

I don't agree with Kathy, either. There are other tests to be done. Celiac, Huntingtons, for example. I am seeing a specialist at DHMC in Lebanon, NH, and they are very thorough there, some of the blood work goes to the Mayo Clinic. I applied for the financial assistance, and it does not cost me anything. Keep trying to find a cause, until all the results are exhausted! So far, mine have not shown any reason, but there are a few more ideas. Like you, I noticed it about then, and I just turned 54 today, and it has been getting progressively worse, but hold your head up, and don't let it get you down. (Because it can)....Don't ever give up on finding a reason!!!! Very important! Welcome, by the way!! :)



neta said:

I dont agree with Kathy. I think it's useful to know, if possible, why this happened to you. Maybe you can be treated somehow.

Thank you Doug and Jenny - you have given me a lot to consider.