I went to a new doctor yesterday and he is sure I have EA2. He would like to have some genetic testing done. Has anyone had genetic testing? I am curious to know what type of information this could provide besides confirming his diagnosis. Most insurance companies do not cover this and the price will be $5000 to $20,000.00 to have this done. Just don't know if I can justify this cost and afford to have this done.
Well you are right about the cost. I don't blame insurance not to cover it. Its an outrage. My doctor told me. You can spend all the money in testing to find out nothing. There are so many numbers for ataxia. BUT! There are more different kinds of ataxia then numbers. If that's the case the test shows up Neg. We know it is hereditary. Because my father had it. And his sister. It is important to do the Gluten test. The vit. B test. There is about 6 of them. But for myself and my doctor. I have full blown ataxia. There is no cure. To me it is not important to have a number. The cost is a crime! Thats just my thought.
I cant see any benefit in having this test other than to help with research statistics in which case it seems unfair that you should have to pay for it.
Patsy
Cost is a big factor but a definite diagnosis opens up a few more doors for social services plus will be a huge tool for family members to stop the gene from being passed on to future generations… Just some thoughts
What’s EA2 ??
Hi
Do either parent have Ataxia? EA2 is inherited in an autosomal dominant manner. Most individuals with a diagnosis of EA2 have an affected parent. Offspring of affected individuals have a 50% chance of inheriting the disease-causing gene mutation. The diagnosis of EA2 is most commonly made on clinical grounds. MRI can demonstrate atrophy of the cerebellar vermis. So it might be wiser to have an MRI instead of genetic test. Link to MIH http://www.ncbi.nlm.nih.gov/books/NBK1501/
Hi - I think that it depends on if knowing if it’s genetic or not would bring you peace of mind and/or if your peace of mind is worth the $5K-$20K out of pocket.
Personally, even if knowing if it’s genetic or not - which I’m not even sure if there’s 100% accuracy with that (?) - knowing would not cure it; however, it could bring you peace of mind. It pretty much depends on what will make YOU feel better.
This topic is on here with different perspectives. You can use the “search” box by the sign-in; and here is one of the more recent discussions:
Save your money.
It will only tell you what cannot
Be Cured !
Regards
Barney
I see that your symptoms started in October. How episodic are symptoms? Do they really disappear or just subside. Did you do gardening? One other suggestion is to get a lyme’s test, but only from IGenX in Palo Alto CA. Lyme’s morphs it’s symptoms every 30 or so days as it grows and expands through your body.
Thank you Ed for the link.
No other family members have or had my symptoms. Both parents are gone as their siblings. I have had 7 MRI's and 2 MRA's plus Cat scan. My diagnosis from Mayo was basal migraines and CSD (chronic subjective dizziness). Yesterday I was very impressed with the doctor I saw yesterday. He is pretty certain of the EA2 diagnosis. I am starting Diamox today. Hopefully this will help. Until they can give me a concrete reason for the genetic testing other than confirming the diagnosis I don't think I will pay that type of money for piece of mind.
Appreciate all you advise.
EdMoose said:
Hi
Do either parent have Ataxia? EA2 is inherited in an autosomal dominant manner. Most individuals with a diagnosis of EA2 have an affected parent. Offspring of affected individuals have a 50% chance of inheriting the disease-causing gene mutation. The diagnosis of EA2 is most commonly made on clinical grounds. MRI can demonstrate atrophy of the cerebellar vermis. So it might be wiser to have an MRI instead of genetic test. Link to MIH http://www.ncbi.nlm.nih.gov/books/NBK1501/
I had genetic tests done a few months ago. The doctors were almost certain that my ataxia was hereditary but the genetic test came up negative. This did upset me quite a lot making me even think that I do not suffer from ataxia although I have all the symptoms. Please read my discussion on this subject. Anyway I believe it is a lost of money unless you want to do it for the benefit of other members of the family. The doctors want to repeat the tests but I am not interested. I believe there is no need to know whether it is genetic or not when there is no cure. I am even thinking about ignoring all my doctor's appointments and make the most of what's left of me.
The tests often come up negative, i have had them done twice (it is free here in NZ) and they were negative but I made such a dramatic improvement on the medication for it, that my dr is certain I have it - he says that genetic testing is unreliable and nearly 70% of people with it, test negative because they have not had identified all the gene markers - it you have to pay - don't do it!!
Louise
The way you feel is the same I feel. I just went for my yearly appointment. Did a MRI which was very depressing seeing my cerebellum all rotten and stringy. I use to go every 6 months. I am going for PT again. I am going down hill fast. But there is nothing the doctor can do for me. The only reason I know my ataxia is hereditary is because my father had it. and his sister. My kids are living life to the fullest. And don't want to know if they have it. Everyone in my family that got it was all around the age of 45. We have to make the most of our life's! I have my kids to think about. They need me!
Deo's Page said:
I had genetic tests done a few months ago. The doctors were almost certain that my ataxia was hereditary but the genetic test came up negative. This did upset me quite a lot making me even think that I do not suffer from ataxia although I have all the symptoms. Please read my discussion on this subject. Anyway I believe it is a lost of money unless you want to do it for the benefit of other members of the family. The doctors want to repeat the tests but I am not interested. I believe there is no need to know whether it is genetic or not when there is no cure. I am even thinking about ignoring all my doctor's appointments and make the most of what's left of me.
I am in the same boat, as the cost is exorbitant and it seems, one's children are also required to take this test. At least Your Doc. has arrived at some type. In my case, we are in dark. Since there is no tangible benefit, it is better to avoid.
I agree.
BERNARD PURCE said:
Save your money.
It will only tell you what cannot
Be Cured !
Regards
Barney
In my case the test was $18,000. It took me a year to get insurance to pay all but $6,000 of it. But now I know for certain I have SCA13, and it’s a relief to have an accurate diagnosis. I lived for 12 years with a mis-diagnosis of Menier’s disease.
Because of an unidentified rash, I was tested for Lyme Disease. It was negative.
But, I'm sure I've read somewhere about the difficulty in testing correctly for this.
I know I have cerebellar atrophy, and my symptoms seem to take the form of a cycle.
This wasn't apparent to me when I was seeing a Neurologist, I was very distressed
then and found it difficult to be rational. All I know for certain is that I tested
negative for SCA6, and I then donated DNA for research purposes.
I should have asked if I would be notified of the outcome of any future testing of
my DNA.
In 1990 I was told (after 1 seizure in my sleep) that I had Epilepsy. In 2011 a
different Neurologist diagnosed SCA, and queried whether I actually had
Epilepsy after all.
EdMoose said:
I see that your symptoms started in October. How episodic are symptoms? Do they really disappear or just subside. Did you do gardening? One other suggestion is to get a lyme's test, but only from IGenX in Palo Alto CA. Lyme's morphs it's symptoms every 30 or so days as it grows and expands through your body.
I was diagnosed 10 years ago with Sporadic (idiopathic) Cerebellar Ataxia (unknown cause). no one in my family as far back as we know has/had, this except me. Guess I'm special...,ha! Although there's no cure, I have always been curious as to why I have ataxia. I was always so physically active and healthy before this. Therefore, last year I had genetic testing for the known recessive types of ataxia (per my neurologist), which was negative. It cost $3000 through Athena Diagnostics, and my insurance did cover the cost (so far...,ha!). I checked with my insurance and Athena ahead of time regarding coverage, as I didn't want any surprises later. Not certain as to why I was just tested for the recessive types, but it is what it is. Also, I have no idea why EA2 testing costs $5000 to $20,000? Anyway, I feel more acceptance now of my ataxia. I also have two grown children and two grandchildren, although I already had my children before being diagnosed with ataxia. My best to you...,;o)
Hi EdMoose,
I had eye,balance,foggy head symptoms for years before the rash set in. That actually started to appear
when we moved to this house, with standing water (lake) and lots of trees and foliage. Nobody
else living in the house has been affected by this. At one time a doctor said it was scabies!
I'll look on IGenX website, unfortunately I'm in the UK.