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In Search of an Orphan Cure

Esther Ilana Rabi

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

Wednesday, July 12, 2017


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 1,500 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. 

The challenge is that sometimes a patient does have a “zebra” disease. Only one in 40,000 babies is born with Pompe. It’s so unusual that few doctors have ever seen a case, or even heard of it. Even doctors who are knowledgeable about a rare disease may be hobbled by the small number of cases they can study to learn about symptoms, environmental variables, biomarkers, and patient perspectives. 

Because “zebra” diseases are routinely ruled out, patients can sometimes waste years going from doctor to doctor, treating one symptom after another, without ever getting to the root of them all.

This is a bigger problem for adults than children. Diseases that affect children are usually more aggressive, and so it’s easier to hone in on the problem; adults are used to having a number of complaints at the same time — for instance, back pain, exhaustion, and bladder issues — and they seek treatment for each problem independently. Adult polyglucosan body disease (APBD) is one adult-onset rare disease with these symptoms. Adults who don’t know they have APBD are likely to go to a number of specialists to deal with their symptoms; doctors don’t often ask about symptoms unrelated to their specialty, and don’t take a holistic approach. It’s unheard of for all of a patient’s doctors to convene for a consultation. 

“The symptoms of my disease are common, even though the disease is not,” says Zalman Goldstein, a well-informed APBD patient. “That’s why it’s easy to misdiagnose. The dragging feet might be caused by ALS. The numbness and fatigue might have been caused by multiple sclerosis. Frequent urination is a common annoyance for men my age. 

“Dr. M., a neurologist who is dealing with my disease, has an office on the same floor as the clinic I visited before my diagnosis. His students and colleagues must have seen me hobbling around, but there are hundreds of reasons a person might stumble like me. Even if they’d been walking down the hall discussing APBD with Dr. M. while I passed, they’d have had no reason to think they might be the ones who could help me.” 

When Zalman joined an APBD support group, he discovered he wasn’t the only one who’d spent years searching for a correct diagnosis. “Almost everyone in my support group wasted years on worthless evaluations and useless, misguided treatments because we were misdiagnosed. We’re talking major interventions, like prostate removal, and back surgeries that left people worse off than they’d been. On average, it takes seven to eight years for an adult to find the right diagnosis, and all that time, the disease is doing damage that might have been halted, or at least slowed, if we’d known what was wrong.” 

If some diseases are horses and others are zebras, APBD, with only 160 diagnosed patients worldwide, must be a unicorn. It’s no wonder that doctors encountering a disease they’ve never seen or heard of can’t recognize a unicorn, and don’t even know what to test for. (Excerpted from Family First, Issue 550)

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