Testing my genes

I live in Quebec and we have health care, so if my neurologist decided to test my genes, it would be free.

The only problem is that he is only testing the genes of multiple cases in the same families (big family of Ataxia) and since there is no other case in my family, I have to wait.

For peace of mind, I am willing to pay, but my neuro says he wouldn't have the time to analyse my genes. I Believe it could tell me what type of Ataxia I have and if there is a chance that my daughter could develop it. Does someone know an other neuro that would test my genes and give me an answer?

Kim

Dear Kim, I live in the States, so don't know if this advice would be useful to you. Athena Diagnostics is here, although I don't know if they do genetic testing out-of-country. You could Google them and call if desired. My best to you...., ;o)

Would there be an advantage to testing they then be able to treat or will you just know what type ataxia is present. I believe if you have to pay you should check all the facts as I think it can be very expensive.

Hi Kim, I live in Chateauguay (10 minutes off the island of Montreal), and have a dossier at the Neurological Hospital, just across the street from the Royal Vic. The doctor who sent me for genetic testing is DR. Brais. He's real nice, although I also am not sure they (doctors) can do much with that. I think that maybe we (those with obvious neurological weaknesses) are tested is so that the docs can eventually give us different care (medication.therapy, . . . ) when/if they can. I know that at the moment many docs are throwing their hands in the air in defeat, but neurological knowledge is a field that is growing real fast-I've seen differences since 2002 when I was first diagnosed- and there is much more tolerance, acceptance, and research in the field of mental illnesses too (one of the most debilitating symptoms of this condition).

I'm long-winded, I know, but I hope some of this could be helpful to you.

Hi Kim,

I live in British Columbia and they do the tests at University of British Columbia I know this is far from you but just a suggestion.

Take Care,

I think that if I knew what type of Ataxia I have, I could know when/if there is something that could help reduce

my symptoms. My neuro suggested that I try ''diamox'' and he says that in some types of Ataxia it really reduces the symptoms...however i know there are lots of side effects attached to it! I haven't decided what to do yet!

gelu65 said:

Would there be an advantage to testing they then be able to treat or will you just know what type ataxia is present. I believe if you have to pay you should check all the facts as I think it can be very expensive.

My neuro is also Dr. Brais! but in my case, he doesn't seem to think it is urgent that I know what type of Ataxia i have....I understand that it is expensive and that they don't have the funding...so I am willing to pay. He suggested I try ''diamox''! Have you tried it?

Ville said:

Hi Kim, I live in Chateauguay (10 minutes off the island of Montreal), and have a dossier at the Neurological Hospital, just across the street from the Royal Vic. The doctor who sent me for genetic testing is DR. Brais. He's real nice, although I also am not sure they (doctors) can do much with that. I think that maybe we (those with obvious neurological weaknesses) are tested is so that the docs can eventually give us different care (medication.therapy, . . . ) when/if they can. I know that at the moment many docs are throwing their hands in the air in defeat, but neurological knowledge is a field that is growing real fast-I've seen differences since 2002 when I was first diagnosed- and there is much more tolerance, acceptance, and research in the field of mental illnesses too (one of the most debilitating symptoms of this condition).

I'm long-winded, I know, but I hope some of this could be helpful to you.

Kim - I have CSA2 and it's hereditary. We found it because my father had it. I had further testing done because when he was telling me the symptoms I had an "AHA" moment. When I went for testing I questioned whether my brother and my son should be tested and the neurologist told me that only if they were having symptoms. Neither one is showing symptoms so they have not been tested.

What is the point of your family knowing if they have no symptoms?

"Could" does not mean they will. Is your neurologist sure it's hereditary if there is no history of it in your family?

Dear Kim,

What do you plan to do with the information after you know what type of ataxia you have? There is no cure for most types of ataxia, may be even for all types. Most of the meds, if there are any, are still being tested. I know you need a peace of mind, but what peace of mind is it if you know your daughter will most likely get it and you cannot do anything about it? Once you know you have a specific type of ataxia you can anticipate what the symptoms may be for yourself, but, if it is for your child, knowing may actually be worse. Think about it, please.

I haven't heard of diamox, but then again, it's possible/probable the dr. didn't want to give me anything unless he's sure what I've actually got.
I would like to know though, because I can know what to expect (I know this is degenerative) and prepare for some issues I'll have to deal with. Depression, for example; I didn't know why my mood was so bad all the time. This condition and the effects and limitations it has in my life (now and later) DO bother me. I'm sad and annoyed, and self-concious (I'm not going to change this because people tell me not to be), I'm not even 50 and I use a walker. Knowing that depression is a common effect of Ataxia made sense and my wanting to sleep all the time helped me look for solutions- which often help- with my GP. One thing we tried that works is extra vitamin D and a mirror across from a window for more natural daylight-especially in winter.
Kim said:

My neuro is also Dr. Brais! but in my case, he doesn't seem to think it is urgent that I know what type of Ataxia i have....I understand that it is expensive and that they don't have the funding...so I am willing to pay. He suggested I try ''diamox''! Have you tried it?

Ville said:

Hi Kim, I live in Chateauguay (10 minutes off the island of Montreal), and have a dossier at the Neurological Hospital, just across the street from the Royal Vic. The doctor who sent me for genetic testing is DR. Brais. He's real nice, although I also am not sure they (doctors) can do much with that. I think that maybe we (those with obvious neurological weaknesses) are tested is so that the docs can eventually give us different care (medication.therapy, . . . ) when/if they can. I know that at the moment many docs are throwing their hands in the air in defeat, but neurological knowledge is a field that is growing real fast-I've seen differences since 2002 when I was first diagnosed- and there is much more tolerance, acceptance, and research in the field of mental illnesses too (one of the most debilitating symptoms of this condition).

I'm long-winded, I know, but I hope some of this could be helpful to you.


My doctor is only certain that I have a type of Ataxia but doesn't know which kind! So he doesn't know if it is hereditary!
Kay said:

Kim - I have CSA2 and it's hereditary. We found it because my father had it. I had further testing done because when he was telling me the symptoms I had an "AHA" moment. When I went for testing I questioned whether my brother and my son should be tested and the neurologist told me that only if they were having symptoms. Neither one is showing symptoms so they have not been tested.

What is the point of your family knowing if they have no symptoms?

"Could" does not mean they will. Is your neurologist sure it's hereditary if there is no history of it in your family?

You are right about the daughter part. Knowing that my daughter could develop it is probably not a good idea!!! However, knowing what type I have will help for when they DO find a...cure or just something that helps.

Norbert N Steiner said:

Dear Kim,

What do you plan to do with the information after you know what type of ataxia you have? There is no cure for most types of ataxia, may be even for all types. Most of the meds, if there are any, are still being tested. I know you need a peace of mind, but what peace of mind is it if you know your daughter will most likely get it and you cannot do anything about it? Once you know you have a specific type of ataxia you can anticipate what the symptoms may be for yourself, but, if it is for your child, knowing may actually be worse. Think about it, please.