“Having a chronic disease is a very difficult existence, especially when you don’t know what you’re up against,” says Eryn Sallee.
It all started with a walk in 2015, one where Sallee felt pressure in her chest. Though she went to the emergency room, the tests were inconclusive. What followed was a spiral of visits to the ER. “My symptoms started getting worse: weakness on one side of my body, episodes of tachycardia and drastic weight loss,” she says. Then the neurological symptoms began.
The 40-year-old mother of two was tentatively diagnosed with Lambert-Eaton myasthenic syndrome — a rare autoimmune disease that often occurs as a result of an existing cancer — but her symptoms didn’t quite match up. Hoping to confirm the diagnosis, Sallee made an appointment in January 2018 for a melanoma check with UW Medicine dermatologist and alumnus Nicholas Compton, M.D. ’02, Res. ’05, Chief Res. ’06, Res. ’10.
“He inspected a tiny little cluster of blisters on one knuckle of my toe with a magnifying glass,” Sallee says. “He asked if I’d had them before, and I remembered I’d had the same thing when I first started getting sick.”
When Compton saw the blisters, he thought Sallee might have a type of porphyria, a rare condition — usually genetic — that can cause skin and nerve problems. Patient and doctor conferred, doing some online research to pinpoint the probable type of porphyria. It was a long shot, but Sallee took the test.
“Keeping an open mind is important,” says Compton of his diagnosis. “Not being afraid to say you don’t know, and being willing to look things up. Listening to the patient, because they’ll tell us what’s going on if we give them an opportunity to talk.”
Listening, conferring, taking initiative. It worked. “He ordered exactly the right test, and it came back sky-high,” says Sallee. “That was a huge turning point in my life.”
There are still challenges ahead for Sallee. While putting a name to her condition was a relief, the stress of the diagnosis triggered a flare-up of symptoms. She now receives weekly drug infusions and is learning how to avoid triggers. She’s having her family tested for the genetic mutation, too, just in case.
As far as Sallee is concerned, her condition was a mystery. And while she’s still hunting for answers to her neurological symptoms, Dr. Compton’s diagnosis is helping her move forward.
“They teach students in medical school, ‘if you hear hoofbeats, think of horses, not zebras,’” says Sallee. “But the zebras are out there — they’re real people, and they’re suffering. Sometimes all it takes is one educated person who has the idea and the follow-through.”
