Well, this morning I had my dreaded genetics appointment. I have been told that I have inherited my late dad’s spinocerebellar degeneration. Dad’s was an uknown cause and they stopped testing his DNA when he died, its only since I looked into my symptoms with his neuro that they are now going to go through his banked DNA and testing mine. The consultant from the genetics clinic today said that all the symptoms I have are too much of a coincidence for me not to have it so therefore a diagnosis was made, though blood tests are still being taken to determine the strain. He mentioned that he thinks SCA4 is the most likely strain I have as the symptoms of both me and dad are similar to the ones associated with it. I feel relief to know why I feel the way I do but also devastation for my family, seeing my mum’s face as I told her was heartbreaking and my younger sister was really upset. My husband is my rock and has been amazing through out it all but I can see the worry in his eyes.
I am so sorry. It is so hard when you are told you have inherited ataxia and is a real shock. It does improve with time though. I have SCA1, which I inherited from my Dad too. He also died in hospital of complications from ataxia. I found out slightly differently from you, and before I was showing signs. My husband and I also had several months of therapy, which helped. My full story is on my profile, if it helps.