When Megan Crowley and her brother were diagnosed with an orphan disease, and their parents told they’d die within months, their father refused to accept the diagnosis,
Megan Crowley seemed healthy when she was born except for some trouble she had swallowing. But when she was 15 months old and still not pulling herself up to stand her mother Aileen took her to a neurologist. “Your daughter has Pompe disease ” the doctor told her. His prognosis was dismal: “There’s no cure and no treatment. She only has a few months to live.”
Pompe (pronounced pom-pay) disease is an extremely rare genetic disorder that weakens the muscles enlarges the heart and causes difficulties in breathing. The Crowleys hadn’t yet digested the news when tests came back showing that their son Patrick a year younger than Megan also had Pompe.
Despite the grim prognosis the fact that the doctor even knew about Pompe and correctly diagnosed both Megan and Patrick with this “orphan” disease — a name for a disease that’s found in fewer than one in 1500 people — was nothing short of a miracle.
First-year medical students have a mantra: When you hear hoofbeats think horses not zebras. In other words when there are two possible diagnoses the more common one is usually correct. For example the symptoms of diabetes (which afflicts one in ten Americans) are similar to the symptoms of Fabry’s disease (which affects one in 117 000 people) although the cause of the symptoms is different. So when a doctor sees protein in the urine high blood pressure and frequent urination she should be thinking about diabetes not Fabry.
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