A Family Disconnect

We all knew something was wrong with grandfather.  What we didn't know was that it was inherited.  As far as we know, grandfather had only four children and from research we found he had a brother.  The brother had no symptoms and that part of the family is not affected.  Of the four kids my mother was the only one to express what is now known as type three MJD. My mother had ten children.  Twins died as infants, one as a toddler. one at 33 and one at 50.  The ones tbat passed did not live long enough to show symptoms.  My  mother was diagnosed in her late 50.s early 60's.  I did not give any thought to ever getting it.  My mom lived to 80,  Then my noldest sister began to show symptons when she was in her late fifties'  My next sister startes in her late fifties and lived until 79. I started in my late 50,s and am now 66.  I have one sister and one brother who did not get it.   My oldest sister who is now 83 had one daughter.  She is also 66 and shows n o symptoms.  So that ends it for that extension of the family.  My7 sister who died atm 79 had twelve children,  One died in infancy.  A boy has had it for some time.  He probably started around the time I did.  He has progressed faster.  So far another boy is just starting to stumble. But I haven't heard about any of the girls.  One of my sisters had diabetes as my mom had.  I don't know about her sons.   So that is my story.  I did not know this ataxia would change the quality ofg my l;ife.  Thank God I have a wonderful loving husband.  I have two boys and they are not old enough to express.  I tookthe blood test to know for sure.  They have not and don't want to.  So I wait to see if it will end with me.
mjdtype3 mjdtype3
1 Response May 17, 2012

I'm very sorry to hear about this disease. It also runs in my family. Can you share what your first symptoms were? I have been experiencing muscle twitching, shaky hands and sometimes feel like a swallow too fast and feels like i'm choking.
Any help would be greatly appreciated.

I wish you all the best and strength

Thank you