When the hoofbeats really are a zebra’s, a patient community helps me navigate a new rare-disease reality

“I have some unexpected news.” That’s what the doctor said to me when my 10-month-old baby was tested for the cause of her persistently low blood sugar. Unexpected is how I’ve come to understand our new normal living with a rare disease. Braving this challenge alongside my child has opened my eyes to the importance of patient communities. 

While hospitalized for pneumonia a few months ago, my daughter’s doctors detected some unusually low blood sugar that needed to be investigated.

“Common things being common,” I asked her endocrinologists during a follow-up visit, “what do you think is the most likely diagnosis?” As a new parent I was trying to understand what was wrong with my baby, and how much I needed to worry. As a doctor I was relying on probability to guide how I conceptualized her care. It is how many of us are taught to think: “When you hear hoofbeats, think of horses, not zebras.” I discussed with her doctors the possibility of her having a condition that was more transient or benign, and left the clinic that day feeling reassured. 

Left unaddressed, low blood sugar can be dangerous. So we scheduled a diagnostic 24-hour fasting test and blood work to find out what was going on inside her body.

Her diagnosis was neither transient nor benign — it was congenital hyperinsulinism. “This is why we do the testing,” explained our doctor after diagnosing my baby with a zebra-type condition, “to catch the things that we don’t expect.” 

I was a doctor before I became a mother and I felt entirely unprepared for this reality. I struggled to grasp what this condition would mean for my daughter’s life. I knew nothing about what it would be like to care for a baby with a chronic illness. 

Over the course of the two weeks we spent in the hospital, we shared a hospital room with four other pediatric patients. Day in and day out, I felt traumatized by each mother I could hear weeping for her child. Was this what I was in for? 

The medical databases I relied on could not answer that question. That’s when I stumbled upon the Congenital Hyperinsulinism International Family Support Forum, a private community on Facebook dedicated to navigating life with this disease. 

What is rare in the medical community is the group’s daily reality. Among us, zebras, or a “CHIbras,” as children with congenital hyperinsulinism are affectionately called, are common. The forum is a treasure trove of lived experience. From navigating side effects of medication to confronting issues at day care, this community has undoubtedly strengthened my ability to care for my baby. 

While doctors can provide sound medical advice, these communities can provide much-needed meaningful advice. The collective wisdom of patients is one the medical community should lend more credence.

It’s a shift that’s already happening. While working as a pediatrician, Dr. Priscilla Chan recognized that patients with a zebra-type diagnosis are experts in their own disease and often knew more than she did. That’s why Chan and her husband, Mark Zuckerberg, launched Rare as One, an initiative that gives patient-led organizations funding not only to amplify their work in education and advocacy, but also to promote clinical research collaboration. I was in the hospital with my daughter on the day Congenital Hyperinsulinism International and 29 other rare-disease organizations were inducted into the Rare as One network.

In my own practice, this experience inspired me to keep the rare conditions in mind because probabilities mean nothing to the patient who is that 1 in 50,000.  It has also prompted me to encourage my own patients to seek out a trustworthy community, whether in person or online. 

As we prepare for our first genetics appointment to determine the cause of my baby’s hyperinsulinism, the other parents in the community have armed me with a checklist of questions to address. I wouldn’t have known these things otherwise. The family support forum has helped my family feel less alone as we face the uncertainties of the future. Most importantly, the community helps us hold onto hope.