Eleven Years of Misdiagnosis

One boy’s battle with a rare disease reveals common struggles among patients worldwide

Alyssa Scalia’s infant son, Connor, had gray skin. Her husband, Tom, didn’t see it, but Alyssa didn’t think she could be imagining it. Doctors assured her that she had nothing to worry about; babies just change color a lot.

Similar reassurances followed when Alyssa noticed that Connor failed to hit developmental milestones like walking and talking as quickly as his older brother T.J. had. When Connor finally did start walking, he always walked on tiptoe. This “toe walking” prompted his first misdiagnosis: cerebral palsy.

“That diagnosis was the catalyst for everything else,” says Alyssa. “That’s what started all the testing.” Now that they had confirmed something was wrong, doctors took Alyssa’s complaints more seriously. Tests that were supposed to measure the severity of Connor’s supposed cerebral palsy revealed unexpected abnormalities in his brain, blood, and breathing, which then prompted more testing. Cerebral palsy no longer explained the full constellation of symptoms.

As tests uncovered an ever-growing list of symptoms, Connor’s medical team quickly expanded to include the likes of neurologists, neurosurgeons, hematologists, pulmonologists, and dietitians. Many were from top medical centers in Connecticut, Boston, and New York City, but none could come up with one or even two diagnoses that would explain all the symptoms, nor could…