50 Years to Find a Diagnosis

July 11, 2022

Patti Schultz Myhre Syndrome
Just about a year ago, my life changed forever. My whole genome sequencing came back with the answers I had been seeking since 1989. Way back then, I lost my hearing first gradually then suddenly. I reached out to a world renowned clinic for help only to be told it was chronic fatigue syndrome and a psychosomatic disorder.

For years, I thought I was a hypochondriac. I did not seek help for my pain or any other symptom I had because it was all in my head. Doctors would tell me over and over that they had no answers for me. Depression became a big issue as I did not even know if I could trust what my own body was telling me – there is something wrong.

About 7 years ago, I went to be evaluated for carpal tunnel. He insisted something was wrong, advocated for me to see a rheumatologist, and said I need to see a geneticist. Because of his advocacy, I now have a diagnosis – Myhre Syndrome.

Author: Patti Schultz

Stay Connected

Sign up for updates straight to your inbox.