My story is pretty wild, as my symptoms presented first as cardiac ones.

I ran cross country and track in college from 2017-21 and then moved to Charlotte, North Carolina for work. I was on a normal run in August 2022 when I suddenly felt weak and out of breath. I laid myself on the sidewalk, and after 5-10 minutes, two other runners saw me and called 911. I never lost consciousness but when the Emergency Medical Team arrived my heart rate was 250 bpm. They shocked me in the back of an ambulance to get out of the arrhythmia and at the hospital I was diagnosed with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC).

Genetic testing revealed I had deletion in the XK gene, but my doctors in Charlotte still assumed I had Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). I attended the ARVC seminar at Johns Hopkins Medicine the last two years, but they had not seen this genetic variant with ARVC patients before. I recently met with cardiologist Dr. Hugh Calkins and geneticist, Brittney Murray, in Baltimore, and based on my genetic test, history of high CK levels in my bloodwork, and otherwise normal heart function, they diagnosed me with McLeod Syndrome (XK). I haven't had any neurological symptoms.

I am very interested in connecting with other young people with XK disease.