Genetic Confirmation Brings Relief

Greg Larson, 50, cable television producer
and father of three children

Joshua Larson, Son

I have hypokalemic periodic paralysis, a rare genetic disorder that affects the body’s ability to keep and retain potassium. When your potassium gets low, you get weak and you can’t move your muscles properly. The first episode happened when I was 13. I woke up in the middle of the night unable to move. My parents knew what it was because my father had the condition. They gave me some potassium chloride crystals and within a few hours I was better.

My father didn’t talk about it much. It was just, “There’s nothing you can do about it. Don’t expect to have a better life.” I didn’t know what it was technically called—kind of grew up feeling like we were alone with the world’s rarest disease. As you get older it gets worse. The more episodes you have, the more muscle you lose. Most people I know of with this condition aren’t able to work until retirement age—they have to quit early.

"This was a foggy area for me, but my genetic counselor was able to clarify the importance of it. It’s comforting to know that if my kids need medical care, it’s going to be in their record, the doctors are going to be aware of it."

- Greg Larson

There are many, many triggers. Over time, I’ve learned that some of mine are carbohydrates, too much exercise, not enough exercise, temperature and stress. My boys have had episodes, too, starting around the same age as I did. My oldest son was missing a lot of high school, because he would wake up with the inability to walk, until we were able to get some potassium in him. But getting a proper medical diagnosis has been next to impossible. We knew what it was, we just had to prove it.

My physicians had basically said, “If we don’t see low potassium in a blood test, we don’t know how to treat this, and, in essence, we don’t believe what you’re saying.” Potassium levels go up and down and all over the place, and they’re hard to catch when they’re low. So most people go through a lot of tests and a lot of guessing in terms of what they might have: a lot of improper diagnoses, a lot of incorrect medication, needless pain and suffering. You start to get defeated.

Ian Larson, Son

But eventually you get to a point where you need to find a better treatment solution for your kids, and think about your long-term ability to work. Through a Facebook group, I had seen people mention genetic testing and Genome Medical, and I decided to go for it.

The results came back positive, for me and my boys. My boys were able to immediately see specialists in pediatric nephrology. The doctors put them on Acetazolamide and the boys’ episodes have stopped unless they forget to take their medication. This gives them a much better prognosis for fending off permanent muscle weakness. It has also given them relief in terms of avoiding triggers during PE at school.

The diagnosis also came with a warning that if any of us were to have surgical procedures, we're very susceptible to malignant hyperthermia, which is a severe and potentially life-threatening reaction to certain anesthetics.

This was a foggy area for me, but my genetic counselor was able to clarify the importance of it. It’s comforting to know that if my kids need medical care, it’s going to be in their record, the doctors are going to be aware of it.

As for myself, I’m taking a different medication, Keyveis. So far it is working well and has given me enough mobility that I can continue working and do a few things I previously physically felt I no longer could. Fishing at the family pond was one thing I had not been able to do for about a decade. But a few weeks ago we were able to haul a number of good-sized smallmouth bass from the pond.

This is just one example of how a diagnosis is beginning to give our family our lives back. This process has proven what I couldn’t get my doctors to believe, and has given me hope for a better life. ▢

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