by Gill Nock
about the author:
Unbeknownst to her for decades, Gill Nock is a carrier of Duchenne Muscular Dystrophy. She is a wildlife artist – particularly bird studies – and loves gardening, opening her garden to charity and raising funds. Her grandson with Duchenne often helps by selling plants from his wheelchair.
Carriers & Medical Incompetence
My mother was one of 7 children. The eldest was diagnosed with Duchenne and mum was a carrier, but she didn’t know that. She subsequently had 8 children and I am the eldest.
I was never good at any sport at school. I was a very anxious child, not top of the class but gifted at art.
Fifty years ago I consulted my doctor on the possibility of my being a carrier as my mother’s brother died of Duchenne. The doctor totally denied that I could be a carrier as no one else in the family had been affected.
Imagine my absolute shock when my grandson was born and diagnosed with Duchenne.
My younger sister was also pregnant at the time my grandson was born. I advised her to seek medical help. Her doctor refused.
She applied to the genetic counselor who insisted that she be tested. She was a carrier, had cardiomyopathy, and the baby had Duchenne.
It appears to me that not a lot has changed over the past 50 years regarding the medical profession… especially carrier status that most seem ignorant of.
Thankfully, my grandson is 30 this year and due to the exceptional care he has received from Mum and Dad, he is wonderful.