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?
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Stanleyclan
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Well, I don't know if this helps, I was given this diagnosis at Newcastle Ataxia Centre.
My ataxia is autosomal recessive, and caused by a mutant gene carried by both my mother, and father. I've been linked to SYNE1. It doesn't have a SCA number yet. That's all I know at the moment.
I donated DNA in 2011 and just got this news a few months ago. As far as I'm aware no-one else on either side of my family has/had SCA.
My mother had similar symptoms to me. But because she was only classed as a carrier of the mutant gene, I find it hard to accept the findings.
My paternal grandmother was a carrier for Muscular Dystrophy. One of her daughters went on to have a son with Muscular Dystrophy. This gene is said to be carried down the female line and passed to males.
I'm not suggesting your husband's diagnosis is in any way connected to Muscular Dystrophy, this is just my family history. 😊xB
I feel that I may have the gene. I went to Tiisevekt Hispital in Warm Springs, Ga but they really did nothing. That is where Presiddnt Riisevekt sent to the warm waters the and began that Hospital. He came down with muscular Dystropy severe in his adult life. They ran no tests at all but the ataxia had not began then. Tell me dbout yours.
From what you have said I think the London Ataxia Clinic are considering your husband may have a mitochondrial disorder.
Mitochondria are the energy producing bits of the cells in our body and have their own DNA which is separate to that for the rest of the cell. Because of their function mitochondria are referred to as the 'powerhouse' of the cell. If there is a mistake in the mitochondrial DNA this leads to cells being unable to produce as much energy. As the muscles and the brain require a lot of energy to function normally, they are the most likely parts of the body to be affected in mitochondrial disorders. In some mitochondrial disorders, ataxia is the main symptom.
Mitochondrial DNA is only passed on by females. Although sons can receive this particular DNA from their mothers they won't pass it on to their own children.
I am afraid I don't have any experience of whole genome sequencing although I have been undergoing exome sequencing (the exome is part of the gene that contains 90% of genetic material) since 2012 with no definitive results as yet. Looking at genetic material is extremely complicated and can be a lengthy process.
I think my mum had the gene passed down to her by her father. Before he died in 1971 he was showing signs of Ataxia but at the time nobody paid too much attention to it.
It's all so complicated isn't it! I'm not sure that they think it is Mitochondrial to be honest.....I think they were just trying to give a little reassurance to a very anxious mum!! Husband's mum was actually diagnosed with MND in the end but had been told it was SCA for a number of years before this. Husbands sister has MS and brother is borderline abnormal for SCA2 gene.
Thank you for your responses....I guess the normal is not really knowing with this horrid condition eh!
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I'm new and would love to have some advice.
Has anybody had to explain their illness to a child, and if so what/how did you say?
