To test or not

[Rhiny99]

Hello! I did join 2 years ago, but life got busy and I did not post. A sibling had ataxia since her thirties and lately found out it is a genetic ataxia. I have not been tested but lately I notice some balance issues (tandem gait, balancing on one foot.); otherwise, I appear to be ok. I have college kids and a young working adult. I haven’t seen a neurologist.....I’m so afraid of finding out for sure.

[Veteran250]

Dear Rhiny.

I can understand your fear, but its better to know than to go on wondering, and living in fear!

I have had Ataxia for about eleven years..... it started off with balance, falling down, wide gait.

Apart from the ongoing symptoms, life is normal, although I am physically disabled, and use an electric powerchair. I have hand tremors, but I’ve had them since I was a small boy,

I do not, nor have I had slurred speech, I am 75 now, and getting on with life as best I can...... I think its best to know but of course the choice is yours...... I hope this is of some help.

Don😀

[Hidden in reply to Veteran250]

I have cerebellar ataxia and also do not have spurred speech Don. Most people I have met with ataxia do have slurred speech. I used to have doubts about my diagnosis because of this. Not now though. My ataxia is of an unknown cause to date. If any of my family were in the same position as Rhiny then I would recommend they be tested. It's a personal thing though.

[Rhiny99 in reply to Veteran250]

I’m not sure I’m ready to find out. Because if it’s positive, I will have to let the kids know. None of my kids are ready to have children. Until I have more visible symptoms and if my kids are at stage of having children, then I’ll consider.

Thank you.

[auntiesally in reply to Rhiny99]

Am with you on this, leave it until they are older to make the decision to get tested, or when they want to have children, I think that is fair to all including you, just remember there is a 50-50 chance of them having it

[Rhiny99 in reply to auntiesally]

Agree. My kids are not ready to deal with this at this stage in their lives. But, I don’t know when it will be the right time. In the meantime, time to exercise, eat healthy and get my life in order. ❤️

[auntiesally in reply to Rhiny99]

Sadly there is never a right time, but you will know, when the time is right for them to be told, yes keep up with the exercisisng for sure! x

[Litty]

For any genetic testing you need to be really sure that you can cope/want too know. Once you know there its no going back. It is very hard for the whole family whatever the result. You have some counselling and after the blood is taken, you can still say no.

My family have all been tested with a variety of results. I have SCA1.

When your children are older and if they are thinking of having a family it is may be useful - they now they offer genetic IVF if you have it, but this is hard x

[Rhiny99 in reply to Litty]

Thank you. I agree.

[Litty in reply to Rhiny99]

Sorry I could not help more xx

[sunvox]

I will offer a different perspective.

First, if you do not test and do have the genetic flaw then your increasing symptoms will force a discussion so hoping to avoid a discussion by not testing does not work. Second, I have SCA1 which is the fastest progressing of the known genetic SCA's and I have not told my kids nor do I intend to do so until they are out of college and/or preparing to get married so having a positive test does not force an immediate discussion. Third, having SCA is not a death sentence. Most SCA patients live well into their 70s and even 80s (my dad is 82 and has SCA1) which until quite recently was considered a normal if not old life span. For our family (I have 3 grown sisters who have children) having SCA has not resulted in a mentally debilitating fear. We will all die at some point and SCA simply accelerates that and makes the last decade more difficult, but it does not stop you from living a full and fulfilling life. Fourth, knowing one has the flaw would hopefully inspire one to work harder to make healthier life style choices that might possibly delay the onset and slow the progression of symptoms.

-

I am 53 and according to the charts on SCA and my CAG count (the CAG count is a measure of how severe the genetic flaw is) I should have bad symptoms. I do not. I had some early symptoms, but so far have been able to beat them back.

-

Genetic forms of SCA are caused by a tiny amount of mutant protein in the brain. I n most cases (not all) It takes decades upon decades for that tiny amount to start to have a negative impact. Maybe just maybe if you take tiny steps to combat the disease, but start early enough then maybe you can delay the onset and slow the progression to the point where your life is essentially "normal". I for one would rather know and fight than wait and do nothing. Once symptoms appear the damage is irreversible. Prevention or a slowing of progression is the only theoretically possible option at the moment. The trouble is doing something is not easy and each action you take will likely not have a visible impact so you have to keep making healthy choices even if you're not sure the individual items are doing anything.

-

That is the heart of what I keep trying to explain over and over on this forum. Dr. Bredesen showed with his work with Alzheimer's patients that taken individually CoQ10, vitamin D, exercise, keto diets, etc. do not show any impact, but when patients put his whole protocol together and stuck with it for 6 months then they got better.

-

You can not wish SCA away nor is SCA amenable to the placebo effect. I have SCA1 and do not have symptoms at an age when I should. For those with a genetic diagnosis of SCA who are as of yet asymptomatic maybe my protocol has something worth discussing with ones neurologist, but not one piece that looks interesting, but rather the whole enchilada: diet, exercise, stretching, good sleep patterns, and supplements . . . lots of supplements.

-

Anyways, just a different perspective.

Joe in NY

-

My protocol: healthunlocked.com/ataxia-u...

[Amynah in reply to sunvox]

Hi I am Amynah and I agree with you completely. It is such a coincidence that - I have SCA1 - Am 53 years old - Had late onset ataxia when I was 44 years old - I have low count of CAG 44 - my mantra is Diet, Sleep, Exercise and Supplements - We have so much in common - we should communicate more - I live on London ...

[Rhiny99]

Joe, I am on my way to church, but I will send you a message later.

I have been reading your posts.😃

[GLBLWK_SCA6]

I've known I had a 50% of carrying SCA6 in my genes for years but never got diagnosed. I was in my early 20s at the time and I was told to live my life not try to anticipate it. Also, the specialist said that if I got tested and it would be on my medical record which I would be obligated to declare for insurance issues or for certain jobs like the military.

Now 15yrs later I've been getting the eary signs of ataxia. Now I'm waiting for a specialist to fit me in her busy schedule, and meanwhile I'm seeing a neurophysio and hopefully soon a genetic counsellor. I'm afraid of an uknown future but taking an active stance in taking control of your life will lessen the fear. Being on this site is a great step!

Since I first found out about ataxia a lot of progress has been made in the research department. Back then it was hard to find groups or associations but now it's much easier to network, seek support, and get updates without having to see a specialist. It's a lot less lonelier.

[Rhiny99 in reply to GLBLWK_SCA6]

Do you follow sunvox? He replied earlier to my post. If you look at some of his past post and replies, he makes some great suggestions. I agree....there is a wealth of info and support. Best of luck to you!