A struggle that crosses generations
“I lost my mum, son and recently my sister due to a genetic disease, and I to suffer from this disease. So come on everyone support this great cause. I certainly know I will for myself and my family and everyone else that suffers from a genetic condition.”
– Carole Cross (Friday August 1, 2013)
My story begins back in about 1990 where my mother started having problems with her legs and hair loss. The doctors has no idea what was causing the deterioration of muscles in her legs causing her at times to fall.
In 1993 I had a healthy baby girl named Samantha.
Then in 1997 I fell pregnant again. The pregnancy was met with a lot of problems. I gained fluid and could only sleep for two hours any longer and it started affecting my breathing, so I would have to sit up.
I went to a paediatrician here in Hobart who diagnosed the baby with congenital Myotonic Dystrophy (MD).
At 35 weeks the baby stopped moving and I went in for an emergency caesarean.
I had a baby boy named Jesse Raymond. Jesse was on life support as his diaphragm wouldn’t work. The Paediatrician explained that if Jesse survived he would be completely bed ridden, probably would never talk and possibly be partially blind and other issues.
So 5 days after Jesse was born life support was withdrawn and Jesse died.
Due to Jesse’s condition and the possibility of it being hereditary, my mother, my sister and I were tested. We all came back positive for MD.
In 1999 I fell pregnant again with another daughter, Danielle and a prenatal test was performed, which indicated the baby did not have MD.
Five years later, after suffering quite considerably with pain and being in and out of hospital my mother died from heart complications secondary to MD. She was 63.
In 2013 my sister died suddenly from heart complications secondary to MD, although she didn’t have quite as many problems as my mother, it was mostly just with her legs. My sister was 52.
At present I don’t have any major problems/issues. I have some minor problems with my legs and hands but these haven’t progressed for the last couple of years. I do however have considerable muscle weakness in my neck. I occasionally experience slurred speech and stiffness in my jaw. As there is no treatment for this condition all I do is visit a Neurologist on an annual basis.
Due to my sister’s sudden heart attack my GP has referred me to a Cardiologist this month.
I am a single mother with two children, my mother was an only child and my sister and I were her only two children. Both my grandparents are deceased. My grandfather was in the Army in Darwin and although never diagnosed he died suddenly at 30. Although my youngest does not have this disorder I still worry for my eldest who has not been tested. I supposed the worse part of this disorder is that no-one can tell you exactly what is going to happen as every-one are different even among family members, or how long your life will be.
I have difficulty opening things, such as bottles, jars, doors, etc. Even driving the car causes me issues due to my neck weakness. I am constantly tired and sometimes even speaking causes me to tire. I do work full-time but by the end of the day there isn’t much energy left. My youngest dances and my eldest daughter now has to come with me because I can’t dress or do her hair due to the weakness in my hands.
I sometimes read articles from time to time on the internet regarding MD and hope that one day perhaps there is an article there to say that a treatment has been found, but I don’t think in my life time.
I believe research may be able to find answers to disorders such as MD and at least give families hope for the future.