A woman was diagnosed with a rare heart disease at 27. Then she saw the same symptoms in her sister.
A woman diagnosed with heritable pulmonary arterial hypertension at 27 shares her journey of misdiagnosis and the eventual discovery of the same condition in her sister. The story highlights the challenges of identifying rare diseases and the importance of patient advocacy in medical settings.
Why it matters
It underscores the systemic issues in healthcare regarding the dismissal of patient symptoms, particularly in young women, and the critical role of genetic awareness in rare disease diagnosis.
Megan Kaverman knew something was wrong with her. At 18, she had started to experience some weight gain and shortness of breath, but her family doctor "never figured out what was going on." Soon, the symptoms became so commonplace that she barely noticed them. Then, at 25, she began dealing with sudden, severe fatigue. Breathing became a struggle. She didn't understand what was happening, or why. For years, she struggled to find answers. Her primary care physician highlighted her weight gain, but couldn't explain its cause. One doctor suggested she eat less pizza. Her high blood pressure was dismissed as nerves. Multiple trips to the emergency room ended with no clarity. Doctors reassured her it likely wasn't anything major. "They just kind of pushed it aside, like, '(You're) too young to have a heart problem,'" Kaverman recalled. But she could barely function.
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