What It's Like to Live With Adult-Onset Mitochondrial Disease


Statistics. When I went through my first traumatic experience, I thought since I “became” the statistic that somehow I was immune to becoming a statistic again. Then something traumatic happened to me again. And again. And again.

When I was 21, I woke up one day and went to swing my legs out of bed and they didn’t move. I tried telling my brain, “legs, move”…but, it didn’t work. Fast forward: turned out, I had rhabdomyolysis (for the first time) and my CPK was off the charts – nearly 100,000. I spent about three weeks in the hospital, then a month and a half lying in bed at home, still barely able to move due to the extent of the muscle atrophy. I lost a lot of weight.

 

This turned out not to be the first and only time I’d end up with severe muscle breakdown with seemingly no known cause. Every two to three months I found myself in the hospital – again with elevated CPK levels and extreme pain in my legs. I’m a software developer so I sit and design and write code all day – exercise, especially extreme exercise has never been my kind of thing. I never did drugs, I don’t drink – none of the medications I was on would explain me getting rhabdo, particularly this severe. Until this point, I was a relatively healthy young adult in my early 20s.

I went to specialists all over the country, for every “-ology” I ever heard of and some I didn’t even know existed. A full exome sequencing revealed I had three mitochondrial diseases: a combination of these diseases the geneticists claimed there had been five to 10 reported cases of, all in children under 3 years who died. I was – am – the only adult case known. This means doctors don’t know my prognosis and they don’t know how to treat me.

To this day, I am still hospitalized every few months. In these last six years or so, I have been hospitalized with recurring rhabdomyolysis as a result of the mitochondrial diseases more times than I can count. Mitochondrial specialists from US coast-to-coast have not been able to tell me why or give me a definitive treatment plan. I’ve been subjected to countless tests, clinical trials, biopsies, blood draws, with no clear answer of how to improve my quality of day-to-day life. More research has been done on me than patient care.

Granted, along the way, I’ve found little things that do seem to help prevent another mito crisis, and I’ve learned to watch my body very carefully and stop way before I hit my threshold. I’ve had to – as pretty much my only way to survive. Not only to keep my head above water emotionally, but also to physically try to limit as much upheaval as possible.

sunset over the ocean

Albeit, this doesn’t mean every single day isn’t a battle that literally exhausts all my energy and breath. And it doesn’t mean I don’t become emotionally worn… I am much more than I ever let on. Being hospitalized with rhabdo is one end of the spectrum of how these diseases affect me, but as anyone with mitochondrial disease will say, there’s many daily battles to fight that are equally difficult.

But what I have to remember is that today I am still alive – I am in that.

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