Kelli's Story...

I had an MH reaction when I was 13 years old while getting teeth removed. Thankfully, I was in the hospital. I was told that it would take 15 minutes and then I would wake up in recovery. Instead, I woke up with a bunch of people around me but I couldn't see much. I was completely frozen and unable to move....I couldn't feel my body, couldn't talk, and I was not breathing on my own (a respirator was on my face etc.…). I kept going in and out of consciousness. I finally completely woke up in recovery and I was fine.

My parents were worried because of the length of the surgery which was over two hours and because they were told that I reacted to anesthesia. The hospital sent a letter home with me which stated my symptoms such as jaw and body stiffness. This was in 1983 and back then, that was it. I went on with my life and forgot about the episode up until 2 years ago when I needed surgery. Luckily I have a friend that is a nurse anesthetist and she advised me to contact the anesthesia department where I needed surgery to discuss my previous symptoms. The providers brought me in and interviewed me about my episode. They took all precautions and I was fine in surgery, I was treated like royalty actually. I did a bunch of research on my own, called people, emailed the professionals on MH and the RYR1 genetic mutation and I was introduced to a doctor at CHOP in Philadelphia. She interviewed me and got a complete history on me about my health and my heat related issues that I have had all of my life - I am relieved to know that I am not a baby and that I really do get hotter than others. She ordered the blood test and it came back positive for not one, but two RYR1 gene mutations; one that was likely pathogenic and one that was uncertain. I was actually surprised and relieved at the same time.....everything makes sense now; all my symptoms such as heat intolerance, not keeping up during exercise, and breathing problems when it is humid. I am happy that I was able to test positive with the blood test.

As told by Kelli

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