I have had the basic genetic tests done and all have came back negative.
BWGreen. You say that you know that your ataxia is not hereditary. I was told by my Neurologist that I may be the first in line to have developed or aquired an unidentified hereditory Cereballar Ataxia. Your case maybe the same?
Possible. The geneticist here told me that there is a very good chance that what I have is not hereditary and wouldn't get passed on. It could be a sporadic mutation that affects me and stops here. See, my mother always said I was special!
Hi Marie,
To neurologist, diagnosis is a classification. When they recommend you to take gene test, I think they are trying to do their job. Imagine this, when they are able to identify your diagnosis, that means they could evaluate your health condition, give you consultation advice and medication if available. This is "their" job.
For yours, the gene test will provide you a test result, either positive or negative. Of course you don't have to worry anything about a negative result, but psychologically, it would not be easy if the result is positive.
By the way, Parkinson involves the brain (the upper part) while SCA involves cerebrellar. The cause, symptoms and development of disease are different though a few symptoms quite similar in some ways.
Hi Charmaine
Thanks for your reply.I had the whole genome test about two years ago at Oxford.They still haven't pinpointed it yet so I don't really know the cause. I can see I move differently to dad but I wonder if he had parkinsons and ataxia.His speech was quiet but not affected really but it makes you wonder.Ours is cell damage not a neurotraansmitter.I am keen to take part in research if they can find a cure for future generations.It could be hereditary but they just don;t know enough yet.I would like to get a proper daignosis for curiosity's sake.All I know is the Cerebellum has shrunk but I don't know why.I wish there was something I could do.
Marie
Michael, you are absolutely right. My daughters are grown and gone with lives of their own; and I am retired, d/t cognitive symptoms that go along with the ataxia in my case. So without the pressure of providing for a family, and knowing that results will not make me ineligible for health insurance, it was much easier to decide as I have. Also, I believe you're right about it being harder to push physically when a job is not on the line. I have learned that for me, when I push it physically, the cognitive symptoms get much worse, so it's a balancing act. I wish you well, and am praying that we can hold on to the health reform in this country that would make it illegal for your insurance company to cancel you d/t a pre-existing condition.
Michael Ward said:
Lorinn: That is very noble of you however when you support a family financially it leaves one in a different place.
I have SCA of an unknown type however my Neurologist believes it to be type 6? I'm waiting until I retire to have the genetic testing to see what type I really have. Unfortunately if any of my 3 kids get it there is nothing I can do about it. Also I think it would do more harm than good to know at this point. I want my kids to live life to its fullest. If the kids suspect that they can have Ataxia then psychologically they would be be cautious and not live as well. I agree with you in helping research find a cure however my experience with UCLA is they only observe and do nothing PROACTIVE towards a cure so may faith in the medical system is a bit jaded. At this point I would not want to jeopardize my source of income by being tested and sending a RED FLAG. I eat healthy and keep moving for now and do the best I can to stay relevant. Now having said that if I had someone to take care of the financial well being of the family other than myself I might have a different view point. For now providing for my family is my top priority. To do this takes a lot of will power. I can not give into fatigue be cause of my situation It makes me do better than most. If I had it easy I might not do as well. The mind is a very power tool if we tap into it. Our Cerebellums are defected not our Craniums. Just have to go on without it? I as you hope that my kids don't develop this dreaded disease. Until then I will try to maintain their well being. Once my youngest is on her own I will get tested and join the research until then I must take a back seat.
I just want to say thank you for so many replies! I am very interested to hear everyone's opinions and am weighing each one heavily. At this point I think it is safe to say that I will wait. As I've heard others say, the treatment is about the same. I've already had my children before any of this, and there is no chance we will have more for other medical reasons. I might be interested to know later on, but since my children have been through so much already with all of my tests I would hate to scare them into thinking they might get this too. I do love the idea about perhaps contributing to research, but I will also probably wait until my kids are grown and I'm sure that my insurance won't be affected.
Hi Marie,
I get it now, it is suspected that it is a combination of Parkinson and ataxia. You have a good will to help the medical scientist finding cure. You are brave and strong. Salute!
For your genome test in 2 years ago at Oxford, I am thinking if you can make a step to help by observe and analyze your symptoms. If you are able to manage, try to read more information about Parkinson and ataxia like the cause, symptoms and development; then discuss with doctor. You will learn more and over the time, will have a clear picture on what they are considering. But this is not a easy step as you have to read a lot of medical jargons that you are not familiar, the most important is it may trigger your emotion. So be careful and make sure you feel fit to read.
This is a brief summary about the cause, influence of gene and hereditary of cerebrellar atrophy.
http://www.ataxia.org/learn/ataxia-causes.aspx
There are 28+ types SCA. The tables at pages 15 and 17 will indicate the onset age and if which SCA could be tested clinically. Page 22 right column, criteria for MSA. (Note: Page 12 is the first page in the following link)
Above page 22 reference 58, it is a discussion about MSA. Extracted from page 1 “Multiple system atrophy (MSA) is a degenerative disorder of the central and autonomic nervous systems, characterized by abnormal -synuclein aggregation in oligodendroglia and neurons. Clinically, the cardinal features include autonomic failure, parkinsonism, cerebellar ataxia, and pyramidal signs in any combination….” Please see if there is any possibility to describe your situation.
http://www.movementdisorders.org/publications/rating_scales/umsars.pdf
Other reading
http://ataxia.uchicago.edu/FAQ.aspx
Quite a lot of reading for your, hope it helps. Oh, by the way, a gentle reminder. SCA is available for gene test for 10+ years only, I think the medical history is pretty new. A lot of research are going and a lot of information are available on the internet. I don’t totally rely on what they said as things are keep updating.
Have a nice weekend : )
Charmaine
hi Charmaine
Thanks for the blurb which I have read.There is no doubt dad had Parkinsons.He hadall the symptoms.Naturally it was a concern and when the neurologists tested me my symptos were definely ataxiaa and not Parkinsons so I do not show any symptoms of parkinsons apart from the crossover symptoms.
MSA was discussed because of the rapidity of my degeneration but althogh I had the same tests twice no evidence of autonomic dysfuction could be founnd.
Its all a bit of a mystery.Like you said I don;t think they know everything yet but they are trying.Sometimes I feel as if I know more about the disease than they do .I am going to see the neurologist on Friday for my annual check up.Am not holding my breath though.Any ideas what I should ask??
It's a good news that you don't have symptom on MSA. If you consider you have ataxia, but Oxford genome test cannot define which type of SCA you involve, is there any possibility that this ataxia falls in those "clinically test not available" types of SCA?
What to ask the neurologist on Friday?
Ask what you want to know/suspect.
Verify what you suspect (Like you believe you don't have Parkinson but you dad had, then verify with your neurologist on this. Tell them your ground and hear their feedback).
Discuss what will happen and what you have to be careful.
Charmaine
Hi
Most Genetic tests are just (for the patient) only blood tests.
BoB
I went to the Ataxia center at Johns Hopkins..everything including sporadic ataxia was ruled out, however, my MRI did show mild tonsillar herniation, which lead me to a neurosurgeon that specializes in Chiaris. A lot of neurologists missed this diagnosis because they think a chiari must be enlongated...that is incorrect, as my neurosurgeon explained, the width also matters, which is hard to see on any MRI. Basically, the change in position of the cerebellum blocks the spinal fluid to the brain. My symptoms were bi-lateral, mimicked those of MS, though MRIs did not show any lesions on the brain. It took 4 years to get answers. My neurosurgeon said if my ataxia and other neurological symptoms got better after I was placed on Diamox, we would know that the problem was caused by the Chiari. Two weeks after starting Diamox I was able to clap my hands, walk heel toe, put my finger to my nose, tremors almost ceased..now 6 months later I almost have no neurological symptoms, and my migraines are 99% gone, stiff neck gone..etc. Given the rapid onset and progression I would say you need to rule out the possibility of a chiari. Talk to your neurologist/neurosurgeon - maybe they can evaluate and try the Diamox, if after a month you have no changes, then you can rule out a Chiari possibility. Hope this helps.
I had genetic testing done because I started having problems similar to my sister (who had no answers as well) and upon investigating we found that our father had cerebellar ataxia. Good reasons to get tested: 1) If you have children that might inherit the disease 2) SCA is on the list of compassionate diseases with SSI, so when the time comes you need to collect disability 3) To find out if yours is the type that is lethal 4) If you should want to sign up for clinical trials at clinicaltrials.gov. My insurance covered it and we called Athena (the company that did my test) to get my sister tested because she didn't have insurance that would do the testing. If SSI is going to run low or run out someday, I would at least prefer to be at the top of their list, like for a legitimate, compassionate disease. I hope this helps and best of luck
I have been to doctors around the country and the Ataxia Center at Minnnesota tested me for all known SCA's. I think it was because I asked for it. I felt like a partner there. I'm not quite sure why it took my say so, but it did. Yes insurance paid for them, but they are expensive. I feel like I'm in charge of taking care of this. Sort of lonely and scared.
Been through the same questions myself.Best thing we can hope for is inner peace.Then it doesn't matter what the answers are.
Marie
Hi,
Short reply;
After looking at my records and my family related data that I presented, my neurologist sent my bloods for genetic testing and it was claimed on return that my 'condition' is not genetic. My bloods where tested through the (UK) NHS so no idea about cost or insurance.
Longer reply;
Thing is, my dad had a heart attack some months ago and because he slurs his speech the doctors assumed dad had also had a stroke! (Dad has recovered well BTW).
After we explained dad had slurred his speech for around fourteen years now and this was meant to be looked into but never was, dad was sent to neurology for testing and later had his bloods sent for genetic testing too ~ (we await the result).
Also, dad told neurologist that my grandfather (paternal) had balance, coordination and other related problems from his early forties - much like my father and much like my own developing 'condition'!
With my permission, the neurology team (dad and I have different neurologists at same hospital) have took my records to compare with those of my dad as it seems that although my bloods seemed to show no genetic problem there may well be a link between our problems - grandfather>father>son! As a side to this, dad has been (details to be confirmed) invited to take part in an informal 'forum' where similar patients and a bunch of neurologists get together for a few hours to discuss the problems at hand.
From my point of view, I would say get the genetics testing done as anything that could help - no matter how seemingly small or trivial is a good thing. Genetic testing showing no genetic link to your 'condition' could be as valuable as genetic testing showing no apparent link.
Seems strange that my Dad had a movement disroder at the same age as me when we were diagnosed.Told the Neuros couldn't find the link.Seems a bit of a coincidence though.Dad died in 1989 so we can't test him.We were told it was Parkinsons at the time but it doesnt seem to conform to the usual form.A lot has happened medically since then-thank goodness for the sufferers.He seemed to have a lot of cramping and pain which I don't get.Also his speech was quiet. Wheras mine is staccatto and not slurred like the others.But I may be wrong.My Neuro said I have had all the tests but they can't find the genetic link??
I stopped my genetics's test. It was $16.000.00 and I didn't think insurance would cover it. Plus I felt that was way out of line for a test and felt insurance shouldn't pay for it.. I know my father, Uncle, Aunt and cousin on my dads side had Ataxia. I know I have it by the way I am. I can tell it is getting worse with age. And there is a possibility my children can get it. At that price they will wait and see. I tell them everyday to live life to the fullest!
Hi Charlie
Where are you from? US?
Charmaine
charlie35 said:
I stopped my genetics's test. It was $16.000.00 and I didn't think insurance would cover it. Plus I felt that was way out of line for a test and felt insurance shouldn't pay for it.. I know my father, Uncle, Aunt and cousin on my dads side had Ataxia. I know I have it by the way I am. I can tell it is getting worse with age. And there is a possibility my children can get it. At that price they will wait and see. I tell them everyday to live life to the fullest!
Wisconsin, US And you?
not US, very far away from there ....
I have read some of the posts here. In US, you may try your luck to contact research center. If they accept your case, maybe they can conduct the genetic test for you at free. But I'm not sure if there is any condition like request you to participate research. After all, I think it's worth to give it a try.