How Myotonic Dystrophy Swept Through My Family

I grew up knowing I had a sister. She was born prematurely and survived three days in an incubator. KarenLynn. My mother blamed her death on doctors. It was a bit conspiratorial. My mother believed the doctor was negligent due to JFK’s assassination. Everyone was grief-stricken, and my baby sister endured the consequences. That was the story until my diagnosis more than 30 years later.

In 1997, I was having lunch with a work colleague and as I got out of his car I had difficulty gripping the car’s door handle. It was awkward; I don’t think he noticed but I did. That moment is frozen for me. I can’t remember the other physical signs, but I went to my doctor and after a visit with a neurologist, I was diagnosed with myotonic dystrophy (DM).

This wasn’t a surprise. My mother had been diagnosed with it five years before but either she wasn’t aware it was inherited — or decided not to tell me. She died a year after her diagnosis from metastatic lung and brain cancer. From across the country – Florida to San Francisco – I remember her telling me about DM. It was a rare disease. She was asked to appear before a group of medical school students to show off her degenerative leg muscles. I was busy in my life and not too concerned since my mother was often sick with something.

DM is a multi-systemic disease that may include skeletal muscle problems, heart function abnormalities, breathing difficulties, cataracts, issues with speech and swallowing, cognitive impairment, excessive daytime sleepiness, or diabetic symptoms. And that’s the short list. My mom – due to an unhealthy lifestyle and DM – experienced most of these in her brief 55-year life span.

I’ve learned with each generation when the gene is passed on, the severity increases. It’s partially related to it being a trinucleotide repeat disorder, like Huntington’s disease or fragile X syndrome. My repeat numbers are larger than my mother’s and more than likely KarenLynn’s were larger than mine. A newborn with high repeat numbers is often how an entire family may be diagnosed with DM. These babies are said to have congenital DM.

Back in the ‘60s no one was diagnosed with the congenital form; they were likely to die in the hospital from severe respiratory problems, which is what happened in our family. Now with medical research and technology, people with congenital DM are living into young adulthood.

I am approaching the age of my mother when she passed away. Though I now identify as disabled, I am proud to say my health is reasonably good. It’s a combination of so many factors, yet they all relate to the considerable degree of self-care I practice. I’ve been facilitating support groups for adults with neuromuscular disease for close to twenty years, launched and trained support group facilitators across the country, and now have a podcast series — Glass Half Full – exploring positive ways to cope with living with a chronic health condition.

Follow this journey on Glass Half Full