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. ▢
Have questions about how your genetics may impact your health?
Genome Medical is now accepting new patients.
Who Should Get Genetic Counseling?
Anyone interested in learning how their genetics may impact their health can have genetic counseling, whether or not they have a genetic condition in their family. People may seek genetic counseling with a certified genetic counselor from Genome Medical for different reasons.
"My grandpa died of a heart condition at 53. Can genetic testing help tell me if I'm at risk too?"
"I am curious about my DNA. What can genetic testing tell me about my future health risk?"
"My partner and I are thinking about having kids. Should we consider genetic testing?"
TESTIMONIALS
“I am grateful for this potentially life-saving opportunity. Specifically, Katelyn Swade was fantastic, knowledgeable, reassuring and answered all of my questions. I will absolutely recommend this to friends and family suffering from similar ailments.”
“Ms. Sheryl Walker was extremely helpful, patient, very knowledgeable. She took the time to make sure I understood what she was telling me and if I didn’t she went into further detail. All the questions I had were answered. She made the counseling end of it easy.”
“Erica Schindewolf was absolutely amazing. She put my mind at ease and advised me in a way that answered all of my questions and made me feel comfortable.”
“Wonderful discussion with Ashley and Anna, both very knowledgeable, professional and prepared for our conversation. Greatly appreciated their help and guidance.”
“I think the type of services provided are superb and quite actionable in a quick matter that showed me they care and they take care of this stuff quickly so we can be informed and get results quickly.”
“I had a really helpful and productive conversation with the genetic counselor. She listened well and set reasonable expectations for what I can expect from my genetic tests. She was great!”
“Every question was answered and everything was explained so very clearly. I was very comfortable with my counselors who were very pleasant and very knowledgeable.”
“Natalie was great at taking the time to share her knowledge and gather important information needed to achieve my goal.”
“Mary Francis Garber was extremely knowledgeable and compassionate. She did an excellent job helping me understand the process and the implications of the testing.”
“Ashley was SO easy to talk to and was very clear and concise on her questions. She made me feel very comfortable and I learned a lot from her!”
