My name is Arran - SCA6 runs in my family and after a year of genetic testing and counselling, I found out that I have the gene in December, so I’ll start to develop symptoms but we have no idea when. This news caused me to reassess how I was living my life, and at 22 years old I quit my job to start my own marketing company… you only live once, right?
I’ve written a blog for Ataxia UK since then, and last month I started a support group in Preston. Although that’s where we’re based, we’ve got people from all over the North West coming along - we have members from as far away as Skipton!
We meet on the last Thursday of every month, and I’ve invited along physiotherapists, pilates instructors, speech therapists, genetic counsellors… the list goes on and on! It’s a great opportunity to make some new friends whilst getting some expert advice. Before starting the group, I didn’t know a single other person with ataxia aside from my family, but since starting the group I really have made some great friends. It’s been wonderful for my dad (who has quite far progressed SCA6) to feel less alone in it too.
If you’re interested in the group, I’d love to meet you!
I’m also here just to talk to other people with ataxia (from all over the world!) - thanks for having me! I hope to form some great bonds on here ``
Hi we have sca 6 in my partner family too. We already had a little boy. His family developed symptoms in their 60s im hoping this will be same for my partner . How old was your family and has it been similar in generations. Has anyone missed out
Both my dad and his brother started showing symptoms in their late 40’s/early 50’s (my dad started showing his symptoms younger than his brother), and they are the only ones who have been diagnosed. My grandmother and great-aunt probably also had SCA6, however their symptoms were just put down to old age, so they never got a diagnosis. Both of my dad’s sisters have managed to miss out, and so far I’m the only person in my family to go through predictive testing and find that I have the faulty gene - my sister will be waiting until she finishes her studies. I have always said I’m a daddy’s girl though, so I was bound to inherit it!
Symptoms seem to be showing younger and younger in my family, but it looks as though I’ve got plenty of time until things start to affect me. I’d definitely recommend going through the genetic counselling/testing process for anyone in your family who may have inherited the gene. It’s a long process and a scary thing to live with, but I’m glad I know about it now - it means that I can start to take care of myself and do things that will hopefully slow down the progression of any symptoms
Has anyone figured out if getting tested is helping figure out medicines or therapies that can help or are they interested in just knowing if you do have an ataxia. I can see pros and cons for an evaluation in the states. Are we finding our insurance carriers will or wont pay to put a number on the ataxia or do we pay and hope we can find things to help our particular ataxia, It seems like a lot of money for some people to pay out for no help possibly in the future.
I’m in the UK so it’s quite different over here (although probably not for long…), but I have to say that the encouragement I’ve received from my neurologist to get involved in studies was quite strong from my first appointment. I personally wanted to know because it would effectively completely alter my path to have ataxia (I wanted to be a tattoo artist… who wants a wobbly tattoo!) but I doubt that my younger sister will ever have predictive testing.
Over here it really just effects life insurance (and that’s not something I’ll be thinking about until I can get a “no questions asked” policy!) right now and, as I mentioned, general planning for the future. I’m glad that I was tested, but I’m not sure that I would have made the same choice if I weren’t in the UK.
Huge welcome @arraneleanor
Great to have more patient input, from the UK
I have been here from the begining (when I was trustee at AUK)
I now have evolved into the (Globally well Known) Welsh Ataxia and rare disease warrior - establishing Ataxia and Me.
Yes neurological issues are very different in the UK, plus very different in each of the devolved nations, evident by each Rare disease implementation plan (which England has NOT produced ! )
Look forward to your input
The 100,000 Genomes Project