A Rare Disease, but A Simple Test
I was diagnosed with Andersen-Tawil Syndrome in 2022. It was a 6 year adventure of various doctors and crazy tests. But the final doctor I saw heard my story and suggested one test – an Invitae saliva genetic panel for periodic paralysis.
I remember the day the results came back. Feelings of fear about my future, but overall relief that I finally had an answer.
I also remember one of the first times I had an actual episode. In 2016 I was at the gym. I already had POTS (Postural Orthostatic Tachycardia Syndrome), so I was using a recumbent bike. I went a little too hard and all of a sudden, my legs stopped working. It took me awhile to regain enough feeling to leave, and my legs didn’t feel right for a week.
I have been very lucky that I have never faced full paralysis, but the symptoms still do affect my daily life. Intermittent weakness, tight muscles. And it affects muscles I wouldn’t have even thought about before, like my back muscles and my ability to swallow. Now that I’m in my 30s, my ability to walk has declined.
The best thing that my diagnosis gave me was dissolving the mental block around using mobility aids and adaptive tools. I was able to fully enjoy my best friend’s bachelorette party in New Orleans because I purchased a mobility scooter.
I’m finally able to live my life without having to search for answers, and one day I hope it can become easier for doctors to recognize and diagnose Periodic Paralysis.
