So I'm very recently diagnosed with some sort of ataxia... my doctor says it must be recessive because of no family history, and wants me to get genetic tests for all of the recessive spinocerebellar ataxias. Looking into this, it's going to be around $7,000 and I'm wondering what's the point of getting tested for an incurable disease? If he is positive that I have it, why should I spend several thousand dollars to find out which specific one? From my understanding the treatment doesn't really differ. All that would be to gain is a more specific prognosis...Also, if I end up having one of the recessive ataxias that doesn't have a genetic test for, I just wasted 7 grande. Any advice? Did any of you decide against genetic testing, or would you say it was worth it? I'm new to all of this so any help would be appreciated! Thanks!
Hi, I live in the U.K so it’s a bit different here as we get free health care. I had genetic testing done and they discovered it is SCA6 but it’s Autosominal dominant which means there’s a 50% chance of getting or just carrying it. I also have 3 boys and due to it being hit or miss I feel that when the time is right, they need to know so they can make an informed choice of whether or not to be tested especially if they want to start a family.
My mum has the same symptoms as me but a much lesser intensity so the Doc told her she had Vertigo. Even after ny diagnoss the Doc wouldn’t budge. It’s piece of mind for me knowing its hereditary however; if there was such a large cost involved, I would seriously think twice. Take care
I am also very fortunate living in England. I believe a cure or partial cure will be found due to all genetic testing that we go through. I am also aware that as mentioned by Beverley our children or planned family may have the same genetic makeup as we do. They may need to be told or serious thoughts made into having a family. Genetics is very big, the possible cure or..................
Why pay for something you cannot control? I was faced with this decision many years ago, and decided it was not worth the cost...If there is ever a cure I'll be the first in line!
I went through this thought process also. Medicare wouldn't pay for the tests. My supplementary insurance intervened for me, and I never got another bill for the 14 blood tests that were done. What did they show? My neurologist said "nothing'. The MRI was the only procedure that confirmed atrophy of the cerebellum. Ergo, I have cerebellar ataxia. Nothing can be done. My two adult children could also get it . But if there is nothing that can be done, why spend the significant amount of money? I'm sure that if there is a miracle breakthrough, my neurologist will hear of it. My dr. also said he could tell me I don't have SCA because of a test he performed in the office.
I am not planning to pursue this further. It is what it is.
I still don't know what type of CA I have got.I think peace of mind is very important.Some ataxias seem to be alleviiated and I think in the back of your mind you wonder-have I tried everything.Have I caused it?You mention any symptom to a Neuro and sometimes they put 2 and 2 togetther and make 5. I was also told MSA but it didn't conform.I've had the genome test but the Neuros don't know-it is still 6 years later an undiagnosed CA.I have been searching for a cause ever since..
I think if it was a genetic thing you could stop searching for the cause.The outcome may be the same but can you put a price on peace of mind.It is important for me but not so much for others.You have to consider mental health as well aand do what is best for you.
I think Marie hit the nail on the head....do you need it for peace of mind? To some, It's worth spending whatever it takes! This is only something you can decide. You will get all kind of opinions but the final decision comes down to personal choice!
Hey runner, like a few others here, I can't afford the genetic testing since the insurance company doesn't cover it. To be honest, I am not sure if it bothers me one way or the other. Sure it would be nice if it was something curable, but it's not, and I am lucky to not have anything that will do me in. Well, at least, I am still alive after having symptoms for 24 years anyway. I was also a little leery of getting a concrete diagnosis because I am fairly certain my insurance would just up and drop me, but that isn't a worry now. Anyway, after talking it through with family and friends I decided it was best not to get the testing done because it wouldn't change how we were treating the disease anyway. If you have people you can talk to, I suggested talking with them and getting their thoughts. Also, what does your neurologist say? Does knowing the name of the specific ataxia mean a different treatment program, or are you going to still go down the same treatment path regardless? There is a lot to think about, but it all boils down to you and what is important to you. Good luck!
Dear Runner, Genetic testing is a personal choice. I was diagnosed with Sporadic Cerebellar Ataxia (idiopathic/unknown cause) eleven years ago. A few years ago, I had genetic testing for the know recessive types of ataxia, which was negative. I'm considering having genetic testing for the known dominant types of ataxia, but my juries still out, as no one in my family, as far back as we know, has/had ataxia, except me. Honestly, the only reason I've considered genetic testing is for my peace of mind, as I've always wondered why I have this. Also, a specific type of ataxia makes one more eligible for clinical trials. I have grown children and grandchildren, although I don't know what I'd do with the information if I found out my ataxia was genetic. My best to you whatever you decide to do..., ;o)
I had all genetic tests available in 2007. Produced nothing, I wanted to know for my children. Since then I’ve actually started to improve and my docs are fairly certain I have SCA. So, without a genetic test no one can simply decide that I’m doomed! And no medicine which I consider a good thing. If they ever start finding definitive treatments and cures for SCA, THEN I’ll spend money on testing. Until then my prognosis and outlook is better than what the docs would probably tell me. The fact is this disease can’t be predicted with much accuracy so why give doctors an excuse to try to rain on your parade. It’s frightening to see things go downhill without knowing how to fix it but knowing which gene won’t change anything. Not knowing gives me hope! I’ve been doing many things to fight this disease and am making good progress. Half of what I’m doing is part of a recent Alzheimer’s study at UCLA that has shown success using a “multi-systems” approach. I’m now going to incorporate all of these routines into my day. This is very promising. The focus was on reversing neuro-degeneration. Take a look: http://www.foodworldnews.com/articles/6502/20141004/alzheimer-disea…
Thanks for the link, Maryseas, as it all sounds very promising! ;o)
My neurologist told me about getting genetic testing. She said its expensive and most insurance companies dont cover it. I was like okay whatever. I know its genetic because my dad has it and honestly I dont care if it is sca 1,2,3,4,5,6,7,8,9,10,11,12 because there is no cure. The doctor said she'd call me if i would be interested in participating in some sort of trial thing for ataxia. I was like ok thats cool. Any disease that anyone has is a battle and all that matters is you fight it the best you can by eating healthy and exercising daily. Yeah the FDA allowed some crap, processed, poisonous food to be sold in stores for the past couple of decades or so and we ended up eating this God knows what crap, but we can live for now and be responsible for what we put in our mouth.
I agree with everyone. While having the genetic testing, which is very expensive it may give you peace of mind to labeled just what type you have–only YOU can decide if it was worth it. As for me my personal opinion was “why bother? It won’t help if there’s no cure” but I feel the same as everyone else…if they do find a cure- my butt would be first in line.
For the meantime…as one of the other replys said…“it is what it is”.
It's not going to change anything by knowing. If you want to do it for peace of mind and you are willing to pay that then go for it.
I got the testing but my father was diagnosed first so they knew what they were looking for and my ex was in the military and I was able to get the testing done through them at no cost. Before I was married I didn't get it done because of the cost. They also did an MRI and psych testing to have a baseline and then I didn't need to follow-up until I saw that I had changes.
Knowing what type of ataxia I have doesn't change anything because it's hereditary. Every type has different symptoms you can get and each type can vary as to the symptoms you have and the severity. You have what you have and nothing is going to change that.
Thanks for the link and the positive Maryseas we need this ......................
Thanks so much for all of the great responses. I think I'm going to hold off on any genetic testing for now... unless I happen to win the lottery tomorrow! :)
To be honest, just like you say: what's the point on spending 7000,00 dollars for something that can not be cured anyway. You might even get diagnosed as iloca (idiopathic late-onset cerebellar ataxia). Meaning: they don't know where it comes from, like in my case. So thanks for nothing, when you pay the bill, right? My neurologist is very open and states that all scientists worldwide researching this particular part of the brain are still in the initial phase, in 'toddler's shoes' they call it here in Holland. There is still that much they don't know about the brain. And IF one day 'something' comes up it will only stop the progressiveness..the loss of cerebellum matter we already have will not recover. So I'd keep the money in the pocket and try to focus on mental well-being, which is the only way to cope with this thing we have. Focus on the 'can do' and not on the things you can't anymore. Wandering down memory lane is of NO use, only saddens you. Laughter helps, so boost the serotonin..best medicine there is. Hugs from Holland, Elle.
continuing testing is a personal thing and often economic varriable. It is to get an acceptable reason for youself;not for a cure indicator. If you are interested, contact Athena Diagnostics (Athenadiagnostics.com. 1-800 394-4493). They had a $1,000 rate for me. but I still think that medicare should pay after appeal. (The handle or reason is that it is a diagnostic test as opposed to a screening test.)
Silky ill did you submit yours to medicare? With success?
FYI, I was told also by Athena Diagnostics that if I was genetically tested for the known DOMINANT types of ataxia that my share of the cost would be $1000. Apparently the testing costs $10,000, but I'd only be responsible for $1000. I have medicare (primary) and blue cross/blue shield ppo (secondary) as my insurances, but was told that genetic testing for the known DOMINANT types of ataxia is not covered by my insurance. Therefore, I'm assuming (?) Athena absorbs the additional cost. A few years ago, I had genetic testing for the known RECESSIVE types of ataxia (through Athena Diagnostics) which I believe cost $3000. I didn't pay anything for that and have no idea if my insurance payed some or all. :o)