Is it worth doing a genetic test when there is no known cure?
I have sporadic cerebellar ataxia (non-hereditary/no known cause) and had always wondered why, as I was so healthy and active. I also have grown children and grandchildren. Although no one in my family has this, I decided to have genetic testing. I asked my neurologist what types of ataxia I should be tested for. He said the known recessive types. Therefore, my primary physician had me have my blood drawn and it was sent out to be genetically tested. Six weeks later I received a call from my physician. My testing was negative, therefore, I know my ataxia is truly "sporadic". Although there's no cure presently, hopefully someday there will be. It helped knowing my children and grandchildren aren't at risk that genetically, I could pass this on to them (at least the known types). Although I have no idea why I have ataxia, it eased my mind and was a blessing to be negative.
When I asked my primary doctor about testing for type of ataxia he said " there's no reason, since there is no cure, and you're not having children" .. I strongly disagree with this ! I have grown children, and grandchildren and I want to know if this is something they need to think about/watch for. So far some sort of post viral/infectious cerebellar ataxia that "will probably go away within six months to two years" is where the dr. is at, along with other possibilities like Lyme. But I would really like to know exactly what is wrong with me.
in my view its worthy to do it. There are a lot of deteriorisations in human life for which there is existing no definite cure. e.g. getting older (your cell functions get older and one day you have to die).
But how many differences between people in this regard..
There have been developped some medicaments which could help you to slow down your disease (rilutek - actually in phase 2 study), and other are in investigation.. Even others are reported only in this very internet forum School-medicine and life style..
In your profile you have indicated that you have been diagnosed with SCA7. There are existing a lot of studies for this and related SCA.. For example when you know that you belong to these and you are already diagnosed, it would be easier for you to get medicaments. Also you can easier read from the studies/reviews about the typical properties of your disease. Before Gen-Testing was invented the SCAs have also been diagnosed, some in groups.
Your disease has been diagnosed formerly as olivopontocerebellar atrophy - clinically by medical investigation, not by gen-testing. I guess there is a lot of literature, fall reports etc. existing about this disorder...
To know your disease category "polyglutamine diseases" will allow you to learn about the functioning of your disease. I have collected several studies mentioning SCA7 edited in 2012 (ie only the newest ones) and did not come to an end. I will post them later into this forum. A friend of mine will come soon and take me with her car to a trip to a thermal bath today. I think i will post the studies tomorrow, if you will be interested. You could also do this by yourself: www.pubmed.org and then
search with "SCA7".
What regards the disarthria i hope you will be able to reverse it to some extent. Also i am concerned with beginning disarthria. The problem e.g. with the rilutek study from 2010 is, that the ICARS score does not weight disarthria with many points. Only 8 of the points of the score are dedicated for disarthria. 0 points normal speech. 8 points no speech. and all between.. IIn the ongoing FDA - approuved study for Ataxia with Rilutek they take additionally the SARA score, but also t his does not emphasize the dysarthria problems very much. think it could be worth to make a study especially for the disarthria and its diminuishing. Many patients - lik me are not so much concerned about not beeing ablo to walk without walking aids, but about not beeing able to express them self in telephone calls, in the public, in shops, in teaching etc... a fried of mine is wheelchair bound, which he does not like. But he has no disarthria and is able to teach... It makes a difference..
Kind regards, nice day/weekend start
Margarete
Genetic testing can only tell you possibilities - children and grandchildren would still require individual tests.
Bearing in mind that this would affect any life or health insurance, it would not generally be advised.
I was told that I probably had cerebellar degeneration from birth .. I did have wedges in my shoes but other than that wasnt aware of real problems until my late 50's. I wouldnt have wanted to know what the future would bring.
Patsy
Hi,
Thanks for bringing this topic. I was diagnosed CA in March 2011. None of my family members exhibited symptoms for the generations I was aware. Pondering on this discussion it is worth to do a genetic testing. As cure is yet to help, this awareness will go a long way for the coming generation to lead a normal and healthy life.
Mine is hereditary. We get around the age of 45. 6 family member got it on my dads side. All around the age of 45. I have 3 children that Im scared to death one or all will get it.Testing for them would be $16.000.00 each child. and of course insurance will not pay for that. Which I don't blame them. That cost is way out there. I guess if you have insurance that would pay it. Why not.
Lori
I think this is personal preference. My father has SCA ( supposedly 6 ) and has slowly declined since his 50's (now 80's!). My doctor convinced me that I should do the genetic tests as an obligation to my children and felt that I should have been encouraged to do this before having children of my own. I asked him about life insurance, and he said that it would be pretty difficult to get insurance w/o doing the test, since I would have to disclose that my father has a highly (1 in 3) inherited disease. So- last Winter I got the test 19,645.00!!! (insurance paid all but 2,000). After a two month wait, I found that I did not inherit the disease. The gift in this was bigger than I expected. I realize from my father's reaction that he was deeply relieved and that underneath it all, he had been very worried that perhaps his children or grandchildren had gotten his disease. I was able to relieve him of this thought while he was alive and that was wonderful. Although my father was diagnosed by the foremost doctor on Ataxia in the US, the doctor did not deem it necessary to do the genetic test (he was late onset, his mother had the same disease, and the symptoms were clear enough). However, it would have been nice to know before the genetic testing, because they had to guess which types to test me for. In the end, I think they tested for about 1/2 of all types. So my neurologist had to add the caveat that while he is 99.9% sure I don't have it, there is a small possibility that the type was missed. If I knew for sure that my dad has SCA 6, then we could be 100% sure, because they did get a negative for that type. I also think that if you have a specific genetic diagnosis, you can set your alerts and you will be first to learn more as information becomes available; and you will not waste time reading studies and wondering if the research may or may not apply to your case.
All the best in your decision.
Do your kids really need to know??
Well- my doctor argued that they should know before having children. He felt that it was not ethical to have children if you have a very serious form of the disease and in some cases, one that arrives a decade earlier for each generation. While I thought that was a pretty extreme view, it did give me pause. I suppose this is very personal.
BERNARD PURCE said:
Do your kids really need to know??
Well I would hate for my kids to go threw what I am. When they see me struggle. I'm sure they wonder if there going to get this terrible disability. And we all worry if the grand kids have it. It will be a ugly surprise of life !
I had kids when I was 20 and 25. My father or I showed no signs of Ataxia at that time. A doctor to say that is unethical. People can not always afford the tests just to have them. I'm sorry but this is a touchy subject.
I agree Lori. I am very close with my father, and he was initially very against me having the test. My father's life has been so deep and rich and he truly has been the light of my life. I can't imagine my grandmother having chosen not to have him if she would have known. All the best,
I would think it would be useful at least to know if it is a specific type, in case future treatments come up. Also, with the advances in medicine , taking steps like saving stem cells at birth might be beneficial.
This will affect any life or health insurance and I will not be advised as you can only treat symptoms anyway
Also never do any of these "free" DNA tests , same deal
Good point Oblidioblida! Saving stem cells at birth is a great idea! Way to think outside the box! Although I gave an opinion already, I'd like to add some other thoughts to the discussion. Having genetic testing is a very personal decision. Many factors need to be considered. Therefore, speaking with a genetic counselor could be beneficial. Most labs that do genetic testing, have genetic counselors you can speak to. ;o)
I do not think so! Enough said;), it's a personal CHOICE!!!
Hi David, i did not want to deny the personal CHOICE, and so i have deleted my message. I could have been misunderstood and lead to an unnecessary emotional discussion.
Margarete
I'm the one who got upset and I'm sorry. I just didn't like it when someone said.' Do your kids really need to know' And a doctor saying we shouldn't have kids. It all just rubbed me the wrong way. Everyone has very good points. And I am all for the stem cell research. Again sorry.
Lori
I, personally, think that this is a great topic to debate. It allows everyone to see the various pros and cons…no matter how one chooses to present his or her side of it.