A Diagnostic Odyssey

Published on Thu, 08/30/2012

I'm Erica Kelly and I live in Mill Valley, California. I'm married to Jeremy, and we have two boys, Jack and Ben, who are 12 and 14.

Both of our sons were born with what we now know are symptoms of myotonic dystrophy. At birth, they were floppy with low muscle tone and clubbed feet, and Jack wasn't breathing at first. We started serial casting and physical therapy immediately, and over the next five years, we had full evaluations done at several genetics clinics, but they all failed to come up with any specific diagnosis. Two boys with low tone and clubbed feet were deemed an unfortunate coincidence, and we were sent on our way. Then we lost our third baby, Peter, when I was 36 weeks pregnant. From the sonograms, we knew he too had clubbed feet, but none of the medical professionals drew any conclusions.

In retrospect, it seems that one of our many doctors or therapists should have diagnosed myotonic dystrophy - but no one did. Around the same time my brother was referred to his first neurologist. He started having mysterious grip issues and seemed to be losing muscle tone. When the doctors diagnosed him with DM, the dominoes started to fall and it all made sense - horrible sense. It was like a genetic time bomb. We soon discovered that my father's two siblings are affected along with many of their children, and of my three siblings only my eldest sister is not affected. Thank goodness! She is our rock.

When I first learned of the diagnosis I felt my life closing in on me. I was depressed and anxiety-ridden; angry that the condition had not been identified by all of our doctors and so worried about what this would do to my family - my lovely little boys and my husband. When I Googled myotonic dystrophy, now 7 years ago, the only information that came up were obituaries. I couldn't find good information and I couldn't find anyone to talk to who had DM or who had even just heard of it. I never thought I would be happy again. Fortunately, I was wrong.

Today, less than a decade later, we now have access to so much information it's hard to know where to start and the scientific community is making amazing discoveries every day. The Myotonic website leads to clear and concise information about research and support; chat rooms; blogs and friends. I am so happy this information is now available for newly diagnosed community members and the medical community.

Learning to live with DM is a harrowing journey, but the landscape is changing fast and we have an amazing opportunity to help each other, get organized as a patient community and play an important role in curing this disease. You never know what is going to happen next. Our sons Jack and Ben, pictured above, are now 14 and 12 - they live for soccer and snowboarding. Who knew? We have so much hope.