I go to see a new Neuro today. I’ve been told I have sca 2, but not gene tested. what are the pros and cons of being gene tested diagnosed, and “unofficially diagnosed?”
Without genetic testing I have found that I cant qualify for any clinical trials, every single one I have seen wants the genetic diagnosis. Also with genetic testing you can get genetic counseling when thinking about having kids to make sure both parents aren't carriers and likely to pass it on to the next generation(s) which is in my mind the closest I can find to a cure is to not pass it along.
Before testing ensure all your insurances, medical cover, income protection if you are unable to work in your profession and hospital benefits are all at the highest level.
Up to this point doctors are only guessing at what your issue may be. Who knows in may not be SCA2
Once confirmed you will now have a Pre Existing Condition.
If you now apply for insurances, medical cover, income protection, hospital benefits they will not cover you for anything related to SCA2. This will work out to be everything in fact.
Why test at all?
Get your parents to test first? If they have it you will probably also have it.
If you know or dot not know if you have SCA2.... this does not change the treatment at all.
Doctors can only treat the symptoms not the ataxia anyway
Go and discuss with a Genetic councillor
As my dr. Says, “information is power”.
Better to know than to suspect.
I have sca6 and now I can tell any family members that they can be tested for one particular gene if they want to know. I had to get the full spectrum and it was expensive, but now my family and children know what and where to look.
It hasn’t made my life worse knowing. It was just expensive.
Have the information great!
Make sure you are well covered for all the inevitable medical and living expenses