5 Things I'd Like People to Know About Mitochondrial Disease

In 2009 I was a newlywed riding in my husband’s semi-truck for a week. While I was the trip, I started having difficulty breathing and got a terrible cough. By the time he was able to get close enough to home for a family member to come get me, I had a high fever. The ER originally diagnosed it as a type of influenza that had been rapidly spreading around. After several months, we knew they were wrong.

I began to notice a wide range of debilitating symptoms. I was in terrible pain and over the next few years, I lost my ability to eat, walk and take care of myself. Two years ago, I finally started being able to function independently again. My life has been drastically changed by mitochondrial disease. I take every chance I can to raise awareness about my illness and how it affects those living with it.

Here are five things I’d like people to know about mitochondrial disease:

1. It can be painful.

Mitochondrial disease affects everyone differently, but on a weekly basis, I experience headaches, nerve pain all over my body, and violent, painful muscle spasms. Because many medications are mito toxic (medications that can harm the mitochondria), those with mitochondrial disease are often forced to choose between relief of symptoms or side effects other people would not have.

2. Some medical professionals don’t think mitochondrial disease is real.

People with mitochondrial disease encounter skepticism way too often. I have personally looked into the eyes of many ER doctors who obviously think I’m trying to con them in some way. There is just not enough taught in med school about this disease, so not everyone thinks it is a valid diagnosis.

3. Mitochondrial disease has no known cure and very few available treatments.

There is a combination of supplements and prescriptions known as the “Mito cocktail.” It has to be tailored to each patient. It took me about 6 months to get the correct dosage of everything, but for some people living with mitochondrial disease, it can be a much shorter or longer period of time. The other part of treatment is keeping a close watch on your body and treating any other problems as soon as they arise.

4. Mitochondrial disease can appear at any time in your life.

While mitochondrial disease is often genetic, there are also people who have no genetic link to the disease.

5. Mitochondrial disease is often first misdiagnosed as something else.

Many primary care doctors are not familiar with the symptoms. I personally was misdiagnosed as having a totally different rare disease. Common symptoms include seizures, severe vomiting, heat/cold intolerance, poor muscle tone and a poor immune system. All of these can be pretty generic, so it often takes a child or adult years to get a diagnosis.

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