Andersen-Tawil Syndrome Diagnosis: Full Circle

In 2009, my baby brother collapsed while running in a track meet. He was 16, and I already worked as a pediatric sub-acute home health nurse.

The diagnosis? A sudden cardiac event (he received CPR) caused by Long QT (an abnormal heartbeat); however, he suffered a brain injury. At the time, we were told Long QT is genetic. I made sure my children had their baseline EKGs done, then I got SICK… I went to sit one day and I could not control my legs.

The search for answers

As a nurse, I knew something was terribly wrong. It took a few years and some very strange symptoms, even the loss of my brother, for things to get to a diagnosis for me. I looked like a stroke patient on one side; I forgot words, was falling, and then had a critical low potassium.

In all my research for answers, I saw an article about ATS (Andersen-Tawil Syndrome), a rare genetic disease that encompassed Long QT, low potassium, and many of my symptoms. Next, I pulled up my potassium results, and it was like the sky sang for me while my legs were going paralyzed.

A brother's legacy

Today, I miss my brother. We all do very much. However, his death somehow saved me and my child, who also has Andersen-Tawil Syndrome with Hypokalemic Periodic Paralysis episodes.

The diagnosis has opened up an entire new world of friends, opportunities, and journeys. Once I was grief-stricken and terrified. Now I am hopeful with purpose.