His Sister Had Confused Episodes, Then Died. Now He Had Them

If you're not familiar with rare metabolic diseases, you're not alone, and that fact is what drove one family's decision to share their story: of one tragedy, and one tragedy narrowly averted. As Dr. Lisa Sanders, author of Diagnosis: Solving the Most Baffling Medical Mysteries, writes for the New York Times Magazine, the family of a 35-year-old Canadian man was worried. Sean, as he is identified, suddenly started having brief but odd episodes where he would wander around with his arms held straight out in front of him, confused as to where and who he was. What ratcheted things up from worrisome to extremely concerning was the fact that his 30-year-old sister, Andrea, experienced the same thing three months prior—and died 12 days after being admitted to a Winnipeg, Manitoba, hospital.

But her case hadn't been solved: An autopsy found that she had brain swelling of an unknown cause. The emergency room doctors were stumped. Sean's initial MRI, blood tests, and spinal tap provided no answers. That led to theories that it was perhaps a psychological condition brought on by his sister's death, but the psychiatrist overseeing his care thought that probably wasn't the case, and that the medicine and neurology teams would need to get to the bottom of it—but time was ticking. After roughly a week came a suggestion: to look at metabolic diseases, those that "interrupt the processes that turn food into energy at the cellular level." But they're highly rare, and usually don't emerge in adulthood. Dr. Tyler Peikes, who focused on such diseases, looked at Sean's case, but he too was stumped. He ordered tests—and it wasn't until Day 11 that one came back positive. Read the full story for more on the diagnosis and why his mother wants Sean and Andrea's story to be shared. (More medical mystery stories.)