MERRF Syndrome

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My Diagnosis, MERRF Syndrome

January 2008

I'm a 25 year-old medical student, member of the class of 2010, at Kansas City University of Medicine and Biosciences in Missouri. As a future doctor, I’ve studied about the many types of diseases. However, the books didn’t teach me anything compared to what I’ve learned through first-hand experience, as a patient.

I was recently diagnosed with a rare disease called MERRF syndrome (Myoclonic Epilepsy associated with Ragged Red Fibers). Basically, there are a group of genetic diseases in which the mitochondria, the “power plants” that make energy in a cell, don’t work properly. Since all cells need and use energy, several different organ systems have the potential to be affected when these power plants fail. MERRF Syndrome is one of these types of diseases. It causes me to have seizures and muscle weakness that gets worse over time.

So, what’s it like having this disease? Well, during my senior year in high school, I copped my way out of a calculus test by having a grand-mal seizure (while I was taking it). You know how it is… Kids will do anything to get out of a test. In college, I was walking to class with a friend one day. All of a sudden, I had a brief, jerky spasm of my arms, shoulders, and neck. My friend started busting up, and between the laughter said, “Louann, what’s wrong with you? I thought you were having a seizure.” I said, “I was.” They were myoclonic seizures. They have been a common occurrence, since high school, if I don’t have enough anti-seizure medicine in my body. I was diagnosed with Juvenile Myoclonic Epilepsy at the age of 17.

What is the muscle weakness like? Well, strap 20 pounds onto each ankle, 100 pounds on your back, and 10 pounds on each arm. Walk around like that, all day, every day. That’s how I feel. In college, my best friend would laugh any time we hiked up the stairs. She’d shake her head and say, “Louann, come on now,” and would proceed to pull me, by my backpack, up the stairs. Today, climbing stairs is next to impossible; standing, even for just a few minutes, is tiring. And, I wake up each day knowing that it is getting worse. What possibilities do I have to look forward to? Leg braces, walkers, wheelchairs, being bed-ridden, etc. When will this happen? Who knows; everyone is different. Even within the same disease category, some progress quickly, others slowly.

Mitochondrial diseases are only one of the numerous groups of genetic, muscle diseases. Clearly, the effects are severe and devastating. My seizures are under control through medication, but there is no cure or treatment to stop the muscle progression. All proceeds from this project will be donated to the United Mitochondrial Disease Foundation to support research.

With the love and support of family and a wonderful support network, my outlook has remained positive, determined, and strong. I’m still the same goofy me, intent on living life to its fullest and pursuing all my goals and dreams. My friends would tell you that I laugh a lot—sometimes for long periods of time, at random, for no apparent reason. I intend to stay that way.




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