I am going for the result genetic test tmr

[Karyfish]

Hey folks , hope to find some cheer-ups here. My mom got sca3 since 50 from 2010 . I am 29 and decided to do the test after my bro also did the test. The result is releasing tmr and I feeling bad already it signs are showing me to keep it up even if might be a positive ...

[isabelalfaiate]

Dear Karyfish,

Just relax you maybe suffering in advance and stay positive.

It may be negative, in my case in my father's generation there were 5 siblings and only two were affected. My aunt and dad were the ones affected, my aunt had 4 kids and none of them are affected (all over 60) my dad had 3 girls and I am the only one affected. If you test positive, by the time you show symptoms there will be some medication and although you do not say if you have children, but passing this on can be prevented, you only need genetic counselling. Whatever the outcome do not let it get you down, if you are informed it is better. Best of luck

Isabel

[Karyfish in reply to isabelalfaiate]

Hi isabel thanks for your comment. I am now heading to the hospital . I am not married not having any kids. But I am just curious and wanna know it in advance so that I can prepare and balance what I want to do in my life ..and being a good daughter to take care of my mom all year round.

I am from china , but moved to hk 20 years ago. My grandma and uncle also share similar symptoms but because they lived in rural China , and there was no such diagnosis . So they just sat and died the last decade in their beds. Now in my generation , situation improves . Just one quick question, will the next generation get earlier onset then their previous generation ?

[isabelalfaiate in reply to Karyfish]

Dear Karyfish,

I am not sure but in my case the onset of symptoms began at the same age as my dad. The Neurologist says this strand is onsetting at an older age after (50) and of slow development. It is good to know because you can plan better. I bought a flat on the third floor and no lift. I was 30 then and the possibility of this Ataxia did not even cross my mind. Just remember you may have ataxia but ataxia does not have you. Forwarned is forarmed, be active, join a gym, run that marathon, enjoy your life everyday do not think too much of your illness, keep those muscles and brain in peak condition and believe that by the time you need there will be a cure and because your grandma and uncle had that experience it does not mean you will have a similar experience. Do activities that help you maintain both fine and gross motor coordination. Get your brother to get genetic counselling if he decides to have a family. Look at it, as it has improved a lot since your grandma's time and medicine is improving all the time, we have so many more ways of being informed. So do not worry do not feel you are a victim, but victorius. Count your blesing every day, focus on all the great things you can do, see that it is already different for you, you are able to know and plan beforehand, but do not plan for the worst scenario it may never be so.

Best wishes

Isabel

[GingerRoxy in reply to isabelalfaiate]

Isabel,

It really means a lot to read a positive and uplifting remark like yours. Sometimes on bad days we just need to be told that there is still hope. God bless.

[wobblybee]

Hi🙂 Is your brother still waiting for results too? Pressure and anticipation inevitably builds up at times like this, sometimes the not knowing can throw you into complete inner turmoil.

It's a big step anyway choosing to be tested, some people prefer not to know for definite, although for some Ataxias it's considered advisable. Personally, I think it all depends on the specific type in question, and the advice given by the Neurologist. And, following on from that, it would give me more peace of mind if after speaking to a geneticist, predictive testing was an option. But, everyone has their own thoughts on this.

Speaking for myself, I may have inherited another mutant gene apart from ataxia, so I'm in a similar position, waiting and wondering🤔xB

[Karyfish in reply to wobblybee]

My bro got positive ..good that he has his fiancée to support next to him though. Talking about geneticist , here in Hong Kong , the gene doctor from the public hospital , at least mine has no empathy at all . Just asked me matter of factly.. so it doesn't really comfort or tell more informed than the internet do

[wobblybee in reply to Karyfish]

😏 Some medical professionals are poorly equipped to deal face to face with patients, the same thing happens here. But then again, you may have been unlucky and caught this person having a bad day😏 I'm sorry you had this experience, particularly at such an emotional time, it must have been very upsetting. But remember, most doctors are very caring🙂

I already had grownup children by the time I was diagnosed, my mother had been ill but we had no idea it could be linked with ataxia. My paternal grandmother was a carrier for muscular dystrophy, again no idea this could filter down through her son to me.

Your brother will be able to communicate with online support groups (if he chooses to), there are several on Facebook🙂 These groups are very friendly and laid back, there's advice and support when needed but also a lot of fun and laughs ( very handy medicine😉). You could also join yourself, there would be other people coping with the same challenges as your mother, it could be helpful to both of you🙂xBeryl

[Karyfish in reply to wobblybee]

Hey thanks ya . So it's a positive and this time the doctor was really caring talking me through it. What do I feel ? I feel calm although when my family asked me about it I can't help burst into tears...

[wobblybee in reply to Karyfish]

😏 It's not easy to take in, you'll have confused feelings for a while. I'm so glad you had a caring doctor to explain things🙂 When you feel ready, come back to us 🙂xBeryl

[Litty]

Oh it is so hard and very individual.

My Dad was one of the first people to be tested and his family back in 1995. I had a young family and really wanted/needed to know because I was thinking of having more children. I found out that I had it coming (I was early 30s). It probably took me about a year to accept this. My one sister with a family too was tested but she does not have it. I found this hard for a while.

Knowing if you live long enough you will have ataxia (mine is SCA1) is hard but you can plan and you need to do what you really want while you still can. Also it was sad but soon after I had the news a close friend and my brother-in-law suddenly both died. It helped me realise I would rather be here with this.

Good luck x

[Pager]

I was diagnosed with SCA17 in my 30's. Like you I was calm and wasn't too worried.. there's not much you can do to change this.

I created myself a "wobbly list" it's like a bucket list but it's things I want to do before I get too wobbly. Life is for living and having wonderful experiences. I recently turned 40 and my family have bought me a voucher to zip wire 😁. I hope one day when I'm not capable of doing these things I can look back at photos and say "I'm glad I did that"

Pager

[Karyfish in reply to Pager]

Haha I am doing a LP list , Little Penguin List, and first come to my mind is I wanna do a marathon . So I just signed up for a half marathon!

[Jujubeelu]

We wish you the best Kary, pls keep us updated.