SCA2?

[Shakedown]

Hello,

I’ve recently been diagnosed with SCA2. My CAG repeats were 37. I’m 51 and only have minimal symptoms. I’m worried about my 20 and 22 year old children. They have not been tested or have any symptoms. Not even sure what questions I have. Any thoughts or advice would be greatly appreciated.

[paul456]

Morning Shakedown

I think you may be to get them tested for the faulty gene I was diagnosed with SCA 6 in 2019 so my brother was tested for the faulty gene through his GP.

Hope this helps.

[Shakedown in reply to paul456]

I’m planning one telling them about my condition and let them decide about testing. My son’s in his last semester of college, so I’ll wait till after that.

[wobblybee]

There are pros and cons when it comes to testing people who don’t yet experience symptoms of a genetic condition..

It can be important when it comes to family planning..

But, once confirmed, it could effect insurance etc

Diagnosis/testing.The diagnosis of SCA2 rests on the use of molecular genetic testing to detect an abnormal CAG trinucleotide repeat expansion in ATXN2. Affected individuals have alleles with 33 or more CAG trinucleotide repeats.

Copied from ncbi.nlm.nih.gov

[Shakedown in reply to wobblybee]

I do remember the geneticist explaining the insurance part. Once we tell them we’ll be sure to explain that. I have a cousin that’s around 40 with SCA2 and decided not to get tested.

Thank you for the information!

[oonee1210]

Hi, my husband got a SCA 2 recently. ( CAG repeats - 39 )He is 40years old and we’ve got one small kid. We’ve decided that delaying the tests for little kid.

Also we started taking medicine that was effective for SCA , we feel that the condition is not progressing further.

I hope you will be fine

[Lucycord123 in reply to oonee1210]

Can I ask what medicine that is?

Lucy xx

[oonee1210 in reply to Lucycord123]

Hi, Lucy We are taking Nilotinib(Tasigna®) . This tablet is very complicated to explain but you can find some information from the internet.

3 months after taking this medicine, my husband have changed walking( unstable-> stable), and body condition as well.

I hope this information will help you : )

[cocobibi in reply to oonee1210]

this sounds very hopeful - was it prescribed by your consultant and where in the world do you live? Here in the UK my husband has not been offered any medication to help, sadly his walking is pretty non existant now and everything is a struggle for him ... and us! Re testing, our 22 and 24yo children haven't been tested. Once they're labelled it affects insurance but also their own belief system, it's then tempting to constantly notice 'symptoms' and feel worse. On the other hand it's important to be aware of any changes too. Until there is a treatment I don't believe it's helpful to have a diagnosis when there are no symptoms. it could really weigh them down. But everyone will be different re info they want to know.

[Lucycord123]

Hi there

I'm Lucy, I'm 32 and been diagnosed with SCA2...my CAG is 42...all my mum's side had it...they are all passed away now including my mum...my mum's was 39 and she died at 48...was an aneurism but she was quite advanced (in a wheelchair).

I would describe my symptoms as minimal..I was like I'm drunk bumping into everything. All my family seem to have died young with it. My uncle was 39.

I'm a social worker and still working just now. I'm on codrydomol 2x4 per day and pregabalin 200mg x 3 per day...I wonder if these are counter productive and I should come off these. You give me hope being 52 with a high CAG and minimal symptoms.

The one piece of advice I would give to your kids I'd have a proper think about whether they want to know because if they are tested and have it, they are labelled and it will have am impact on a lot of things including life insurance.

Hope that helps.

Lucy xx

[Shakedown in reply to Lucycord123]

Others may have asked about my walk several years ago but I didn’t notice until later. One year ago I new something was wrong and started looking into it. I do a cardio workout 5 days a week for about 45 minutes each day. That may be a little excessive but I’ll do it while I can. I’m using running as a benchmark for my symptoms.

[Lucycord123 in reply to Shakedown]

I can't run anymore but I should try to start this

Thanks for your reply

[Shakedown in reply to Lucycord123]

Walk or use a stationary bike. My Dr’s and most of the people on here seem the think exercise is great.

[Lucycord123 in reply to Shakedown]

Absolutely...I've really let myself go recently and not been thing care of myself so I've got a cheek to be saying anything...I'm not helping myself

[Shakedown in reply to Lucycord123]

Stay strong and try to find something to enjoy every day.

[cocobibi]

Re testing, our 22 and 24yo children haven't been tested. Once they're labelled it affects insurance but also their own belief system, it's then tempting to constantly notice 'symptoms' and feel worse. On the other hand it's important to be aware of any changes too. Until there is a treatment I don't believe it's helpful to have a diagnosis when there are no symptoms. it could really weigh them down. But everyone will be different re info they want to know. Perhaps worth taking eg life insurance or health insurance out some time before they might be tested?