Ataxia sca3

[sophie83]

Hello all im sophie 32 i found my biological father back in november but he had passed from ataxia at age 55 his brother and niece have also passed and nephew has it , my fathers oldest sun doesnt for 2 yrs i have had pain in my ankles had tests for diabetes artritis etc full blood count gone back compalining as can feel like it burning when i walk far distances and i ache alot and sometimes feel like i have pulled my ankle in sleep several times but am also hypermobile but the doctor has now put me on netve blockers and thinks it could be ataxia although i got ball rolling when found my father to get tested so already have done that and get results 6th of april so my children will know as i never knew about my medical history till now but the only thing that foesnt sit right is aparently they all started to lose speach first where my speach is fine i think but have always struggled to say some words as have hearing difficulties

[wobblybee]

Hi Sophie😊welcome

It's Beryl, from Living with Ataxia😊 Isn't it a small 'ataxia world' 😊

You'll find that after reading facts about SCA3/MJD,  symptoms can 

vary even within the same family.  I hope the links were helpful😊xB

[sophie83 in reply to wobblybee]

I have asked to join but noone has added me yet all i get from.his wife is speach is the first sign i think purely because she doesnt want me to be his daughter although im 100% sure yiu dont need dna you can just look and tell he is my father if i wasnt a 100% sure i would of carried on looking 

[Hidden]

Hello,

So sorry to hear of your late knowledge re: family medical history -- but better late than never, right?  Having an hereditary disorder in your gene make-up and the possibility of passing it on to future generations is definitely scary.  But rest assured, Knowledge is Power and hopefully, you'll gain a better understanding and acceptance when you get your personal test results.  

Re: first symptoms being different, even among family members -- yes, this is very possible, as I can attest to...In my case, a number of my affected relatives had difficulties with walking and balance as the first signs, whereas I had speech difficulties as my first sign.  As I understand, environmental factors and an individual's unique make-up most likely play a role in what neurological symptoms will surface first.

Hope this helps, and good luck to you as your journey continues...  

[sophie83 in reply to Hidden]

Many thanks 

[Hidden in reply to sophie83]

Sure...Unfortunately, the previous generations didn't have the knowledge and research that we/future generations have/will have.  And like you, I didn't make the connection of my slurred speech as being related to the others' walking problems -- until I was 29.  Twenty years later, and now that I have an understanding of the different possibilities of symptoms, progression and severity that come into play for such a neurodegenerative disorder as an hereditary ataxia, I'm OK with it.  Mind you, I still hate it -- but nonetheless, it's nice to have that peace of mind and knowledge.

[sophie83 in reply to Hidden]

Thanks for that had probkems with my joints fir some time but ataxia was never considered before because we didnt know my makeup but thankyou 

[Litty]

Oh that is SO unfair! Excellent advice though. TRY not to worry until you get the results and hopefully you will be clear and it will all be a nasty experience. 

Unfortunately my result was not good back in 1995. I was not showing signs then and it took me and my husband about a year to come to terms with the news. It could be worse though. I had 2 young children at the time and we decided we did not want any more. This is a very private decision but at least if you have kids you do not have to make that decision. My thoughts on that have changed over the years. My family would not be here if my father had decided not to have me and they are everything! Also seeing friends and relatives die when they were young is a real wake-up. I would rather be here like this!

Anyway fingers crossed that it will not be a problem. Please let us know. Best of luck whatever : )

[sophie83 in reply to Litty]

Thanks im glad i learned now so that my children will have a choice as adults if i do as i believe if id know i had it i would not of had my son 2 yrs ago and just kept to my older girls 10 and 8 espicially as one has learning and mental health needs and one is almost particially sighted so if i do i believe it will be a challange for us all but at least my kids will have a choice 

[Hidden in reply to sophie83]

Yes, yes, yes!  And that's what's so exciting about family planning and the options our children may have if he/she knows what faulty gene is in the make-up.  FYI, in case you don't already know this -- offspring have a 50/50 chance of inheritance in autosomal dominant types (which includes SCA3) -- if you are indeed affected. As I understand, an offspring must have an affected parent, and so  if you don't have it, then they won't have it.  

And so with that being said, when your children are older and you test positive, they may choose to get genetically tested.  He/She can then choose PGD (preimplantation genetic diagnosis) via IVF (in vitro fertilization) as a family planning option, if so desired.  Unfortunately, it's a very costly procedure at present -- but hopefully the price will drop for our kids!  PGD is gaining much recognition and attention here in the US.  A breakout session is on the agenda of the upcoming National Ataxia Foundation's Annual Ataxia Conference.

 

[sophie83 in reply to Hidden]

Thankyou for that i dint know that end part that is very good to know thanks so much for that information much appricated 

[Litty in reply to sophie83]

It is so hard. Everyone is very different but my 2 have seen their Grandad (I was his carer and he lived next-door ) and now me with ataxia and they have grown-up knowing they both have a 50% chance of inheriting the faulty gene. They are in their late twenties now and my son is just thinking of being tested but my daughters not ready.

When I got over the shock of finding out it did make me think if I had any regrets I wanted to correct while I still could. My passion is art (but I cannot draw or sculpt for my life!) and I had not followed it. I did an art foundation and found out I Ioved clay. I used a medical insurance policy pay-out we had to buy a kiln and now do ceramics and make a bit of money for Ataxia UK. I have to keep adapting how I work. It is never too late! 

[sophie83 in reply to Litty]

Thankyou i certainly have said there is some thing i want to do like to sky diving taking my kids to disney land i didnt have much of a childhood as spent in and out of the care system so i want to make memories for my kids but happy ones 

[Hidden in reply to Litty]

That's wonderful, Litty -- keep the faith!!