When I accompanied my husband to the London Ataxia clinic it was mentioned that it is a possibility that his faulty SCA gene (not yet discovered which one it is) COULD be only passed down by females as it was passed to him by his mother. We have no contact with my husband's wider family so have no idea of the history of the illness but this of course gave me a spark of hope for the future of our son. Has anyone else looked into this???
Also my husband recently went for a blood test to take part in whole genome sequencing and was told it could be a year before we hear anything back.......has anyone got any experience of this?