help!

[weegiz12345]

Got another question to ask all my ataxia friend’s are normally quick to answer so here goes. I have SCA2 my mum and her 2 sisters are ataxia free so I think I’ve got it from my grandma. I have 2 sons 1 is getting his test results on Wednesday. He’s been told if he’s not got it his 2 sons won’t get it so how did it skip my mums generation. Can he just be a carrier? My sisters haven’t got it either so could they be carriers meaning their kids can get it? If my 2 sons haven’t got it does that mean it just stops with me?please answer simply as I find certain things quite complicated to understand.

Thanks

Louise

[wobblybee]

🤔The best explanation..will be from your Neurologist.

Generally..the chance of inheritance is 50/50….it can depend on the number of ‘CAG repeats’ found on testing.

🤔 Being passed on by a father can make a difference..and there is also Recessive SCA2 (SCAR2).

I found a link to info..but it fails to post.

[weegiz12345 in reply to wobblybee]

Thanks Alison I can’t understand all the ataxia jargon. Have not been to see my neurologist never did anything to help me useless. Think they have forgotten about me Not seen consult for 2 years. Thanks anyway xx

[littlelegs914]

hiya I inherited this from my mam .who didn’t know anything about her grandparents on either side.my sister has this too but my brother is not affected, I have 4 kids and the oldest 2 don’t carry the gene but the younger 2 do. My son is very wobbly yet my youngest daughter works in a pub serving food and drink .we can’t carry a cup without spilling it.we had genetic testing 12+ years ago . My grandson from my unaffected daughter does seem to me to be having balance issues and is being seen by the neurologist.

[weegiz12345 in reply to littlelegs914]

Thanks for replying much appreciated, very interesting so people can just be carriers. So you can carry the gene not be affected but pass it on.

Louise xx

[Ginger1]

I have severe cerebellar ataxia. My mum doesn't have it but she does walk with a wide gait & is heavy footed. My dad didn't have it. When I saw a specialist in Sheffield many years ago, he thought my parents could be carriers & it's manifested in me.

We think it has been passed down via my grandads side (my mums dad). He walked oddly I believe. My uncle falls & walks strangely but has never been tested.

I personally don't think they know enough about it yet but in time who knows?

All the best to you and your family 🙏🤞. Keep on trucking & smiling 😁

[weegiz12345 in reply to Ginger1]

Thanks so much for your reply. I don’t know much myself but hearing about other people is really interesting. All my best wishes for you and your family too xx

[weegiz12345 in reply to Ginger1]

Your story sounds very similar to mine. Have any children? If so how are they affected? If none do you think it will end with you? Take care xx

[Ginger1]

No I've no children. I decided not to have any years ago. I didn't want to risk passing it on, plus I struggle enough just looking after myself, so I couldn't imagine looking after a wee 1 😜. I wouldn't be able to cope.

I've probably had it since birth cause I was very clumsy, my eyes flickered & I had no balance. Things only came to fruition when I was in my 30s & I was only diagnosed then. I am in my 50s now.

My Uncle (my mums brother) has children & grandchildren. I believe one of them has a little trouble, so might be affected?

[weegiz12345]

My kids were well into their 30s when I was diagnosed. I’m 62 now and my ataxia was diagnosed about 10-12 years ago. My youngest son has just found out today he has ataxia. He’s 42. Don’t think he ever really believed I had anything wrong with me. Was so good to talk to you, take care xx

[penelope2]

I don't understand either about genetic and hereditary ataxias. But there is reccesive genes that can, I believe skip generations. The UCLH in Queens Square specialise in hereditary ataxias so maybe try and get a referral. Even in autoimmune ataxias there is an hereditary disposition and genes that they test for. Unfortunately most neurologists are clueless. This maybe unfair but it is also what I have found.

Good luck to you and your family in this worrying time.

[weegiz12345 in reply to penelope2]

Thanks Penelope, my youngest son was diagnosed with ataxia last week. So my grandma had it ,totally missed mum then I got it then my son. we don’t know yet about his sons. I too think neurologist are rubbish. Thanks for your comments xx

[auntiesally in reply to weegiz12345]

I was diagnosed 6 years ago and no longer bother to see a neurologist, to me it seems as if they just tick boxes, I have 2 sons, one got a negative test, the other doesn't want to be tested, 4 grandchildren, my life has changed dramatically. x

[weegiz12345 in reply to auntiesally]

Thanks for replying yep I agree I don’t bother with neurologists either useless. I have 2 sons 1 positive last week other one not bothered. 3 grandchildren. My life changed dramatically too. Don’t go out much now no holidays. Getting married though in 2 weeks 😌 it’s my partner I feel for

[auntiesally]

congratulations on your weddding, hope you all had a lovely day x