Immunology Clinic on the Lookout for ‘Zebras’
Most doctors look for horses.
Immunologists, though — they look for zebras.
“It’s based on this old medical school saying, that when you hear hoof beats, you should look for horses, meaning that the most likely diagnosis should be your initial focus,” said Maria Slack, M.D., director of the pediatric immunology clinic at UR Medicine’s Golisano Children’s Hospital. “But physicians who deal with Primary Immunodeficiency Disease (PIDD) — we find those zebras a little bit more often. So we grow accustomed to looking for them.”
Slack joined the Division of Pediatric Allergy/Immunology three years ago, and shortly after coming aboard, she partnered with Geoffrey Weinberg, M.D., Clinical Director of Pediatric Infectious Disease, and began seeing patients at the hospital’s pediatric immunology clinic.
The clinic treats children who are suffering from recurrent or unusual infections. Often, the cause turns out to be something environmental, with allergies being a common culprit.
But sometimes, the doctors find a zebra — a condition that has compromised the patient’s immune responses on a systemic level. These conditions, wide-ranging in both type and effect, are often referred to under the blanket diagnosis PIDD.
“Some of these conditions are curable, and many are treatable,” said Slack. “The key step is just identifying what they are.”
When 12-year-old Benjamin Brouillard arrived in Slack’s office, nearly a decade had passed since he’d been diagnosed with oral thrush, a painful infection that causes legions on the inside of the mouth and throat. Normally treatable with an antifungal medication, Benjamin’s thrush kept coming back, over and over.
“We were tearing our hair out for years just trying to understand what was going on,” said Karen Brouillard, Benjamin’s mother.
Slack, alongside Dr. Rebecca Abell, pediatric gastroenterologist, and Angela Girvin, M.D., pediatric hematologist/oncologist, began studying Benjamin’s medical history — and that of his family. After ruling out a few possible causes, they moved on to blood work and imaging while continuing a sustained antifungal regimen.
After several months, they decided to try genetic testing. Results took some time to come back, but finally, the Brouillards had an answer: Benjamin had a gene mutation called STAT1 gain-of-function. What’s more: his identical twin brother, Jonathan, had it too, despite never sharing his medical challenges.
Now, the brothers are both receiving treatment, and they’ve connected with researchers who are studying the mutation and attempting to find cures.
“It’s been a long journey and it isn’t over,” said Karen Brouillard.
“But we couldn’t be more thankful for the expertise of Dr. Slack. Having confidence, and knowing your docs are so knowledgeable and so compassionate just makes a world of difference.”