Dr Kumar had been asking me if I was Jewish over a year or so, to which I always replied, “not that I know of”. He finally decided the time was right to see if I had a mutated gene. There are various classifications based on age of onset, body distribution, temporal pattern and associated features. He was looking for the DYT1 and DYT6 genes. DBS brain surgery has a high success rate for treatment of these genes.
I called the lady who ran the dystonia study to ask why Dr Kumar kept thinking I had Jewish ancestry and how it related to genetic testing. She explained the Ashkenazi Jews tend to have DYT1 gene that causes dystonia and so do Mennonites. BINGO! Dr Kumar never asked if I was of Mennonite descent. My maternal grandfather left the Mennonite church in his early twenties.
This part of my family left Germany, made their way through Canada and down to Colorado on the eastern plains. This was a tight knit community for generations, in fact my grandpa’s first language wasn’t even English, it was German.
Why did I just tell you my detailed family tree? Because Amish and Mennonites that migrated from Germany through Canada are particularly prone to genetic mutations causing dystonia. When it’s against a religion to marry outside the faith and the community is small to begin with, well you get the picture. That’s right, I’m the product of inbreeding. YUCK! My mother passed away from HER2 breast cancer, which is a genetic mutation…makes me wonder.
They ran a whole panel of genes and if my results came back with DYT1 and/or DYT6, my daughter would be tested next. These genes mean she has a probable chance that her kids could develop childhood onset of dystonia. She would have to weigh the options before having more children. Thank goodness my results came back negative for them. They are discovering new mutated genes related to Mennonite descendants on an alarming rate. Dr Kumar believes I have a mutated gene that wasn’t in the panel run on me.
The next question was “do I have any family members diagnosed with dystonia?” I don’t really know my grandpa’s family for an answer to the question. In all certainty, I know he had blepharospasms and cervical dystonia. My grandpa had excessive eye blinking and movement of his eyebrows. He also shifted his body instead of turning his neck. This was noticeable when he would listen to the person he was having a conversation with. I never thought anything about it since I didn’t know him any other way. I had never even heard about dystonia while he was alive.
Me Myself and My Dystonia 