Personal narrative uncovers diagnostic and prognostic challenges in an adult with Myhre syndrome, highlighting clinical uncertainties in ultra-rare genetic diseases.
Five years ago, at the age of 50, I received the diagnosis of Myhre Syndrome. A lifelong search for answers finally had a name. I thought getting this information would give me a clear treatment plan and prognosis. I was wrong. Instead, out of around 200 people worldwide, I became one of the oldest known with Myhre. I had more questions than answers.
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Patti M. Schultz (2026) studied this question.
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