“Oh yes, you have CMT.” Perusing my chart, my doctor looked decidedly embarrassed. “Remind me again just what that is?”
It was nothing new. Charcot-Marie-Tooth disease (CMT) is a subject most physicians cover briefly in medical school, and never encouter in actual practice.
CMT affects about 150,000 Americans and is the most common inherited neuropathy. It affects the peripheral nerves — those in the lower legs and feet, but sometimes the arms and hands, too. There is no cure. The nerves become progressively damaged, which causes the muscles to deteriorate and shrink.
My mother was born with this condition, along with several of her 12 siblings. She generously passed it on to all seven of her children.
We were all pretty dorky as kids. All seven of us had painfully thin ankles, highly arched feet, and severe physiological foot drop (where the foot tends to point downward). These combined traits made us pitifully slow runners, and we had a weird way of walking. In order to keep from stubbing our toes while walking, we would forcefully lift our knees with each step and slam down our heels. It resembled marching and was extremely loud. People could recognize the Haislip kids from a block away because of this distinct, noisy gait.
Trips to visit my mother’s family in Wisconsin each summer were comforting as a child, because we were among fellow dorks. We could hang out with aunts and uncles and cousins who walked and ran as we did, and no one told us we looked strange. Our family reunions must have been quite a sight for passers-by.
The funny thing is, we never knew it was a disease. None of us had ever heard of CMT. It was just the way we were.
In 1995, our family received its first diagnosis of CMT. First a brother, then my mother, then me. In time all of us were properly diagnosed and we discovered that this was a real, actual disease.
There were fancy medical explanations for all of our odd qualities. Our thin ankles and high arches were caused by muscle wasting and shrinking. Our funny walk is what medical experts call a slapping gait. We learned that it was hereditary, and that it would get worse.
We also learned that there were others out there like us. There is a national association for CMT sufferers, the CMTA. We found out that CMT was one of several neuromuscular conditions sponsored by the Muscular Dystrophy Association–Jerry’s kids. My mother founded a local support group and has become a resource for fellow CMT patients in our area.
The high incidence of CMT in my immediate and extended families caught the attention of Dr. Florian Thomas of the Department of Neurology at St. Louis University. At his urging, our families volunteered to take part in a research study of CMT conducted by him and several of his associates around the country.
In the past few years we have repeatedly surrendered blood and even tissue samples and undergone often uncomfortable nerve testing. All this in order to locate the genetic flaw that causes CMT and possibly lead to a cure.
During the course of his study, Dr. Thomas discovered that our family has a form of CMT that has never been seen before, save for a single family in Bulgaria. The research study is still in progress, but in the meantime, much has been learned about this condition and its etiology.
It’s enough to make a family feel needed and important.
And definitely not dorky.
