MSI Press Blog

  When the pediatrician met Doah for the first time, he paused longer than most doctors do. He examined, listened, measured, and then looked again—as if something in Doah’s face or posture had unsettled him. He told me to call him at six the next morning. When I did, his voice was thick with exhaustion. “Have you been up all night?” I asked. “Yes,” he said. “I’ve been reading. I can’t find an answer.” This was before the internet, when research meant paging through medical books under fluorescent light. He had been searching for an explanation—something that would account for why Doah “bothered” him. Not because of prematurity; Doah had weighed in at four pounds and seemed healthy enough. But something in his appearance, his bearing, his indefinable difference, had caught the doctor’s attention and refused to let go. “I can’t find an answer,” he repeated. “Doah has dysmorphic features, simian creases, and the only thing that comes close—but still doesn’t fit—is Fetal Alcohol Syndro...

  It just happened. Not overnight. I just seemed like it. All the rainbow makers had lived -- and become adults. Now what? As we were to find out, the answer to that question was on us. We found out the Catch-22 of adult rare disease care. Pediatric teams were clearly trained and resourced for congenital complexity—but they discharged based on age, not need; typically, age 12. Sorry, Doah, they said, we just now have a diagnosis for you -- CHARGE Syndrome (a newly discovered syndrome), but you are a big boy now, about to be a teenager, so goodbye. At last, finally, we had a label, but no way ahead and no doctors. PCPs available in our area, of course, knew nothing about CHARGE, but they did their best to treat Doah, treating him like any other teenager and then young adults, and now aging adult. Adult systems, we learned, are siloed and symptom-focused, often lacking interdisciplinary coordination or rare disease literacy. Clinicians fear liability or “not knowing”, so th...

Most people haven’t heard of CHARGE Syndrome (including doctors who say, "This is my first patient with CHARGE")— and that’s part of the challenge. CHARGE syndrome is a rare genetic condition , affecting roughly 1 in 10,000 births . It’s complex, lifelong, and looks different for every person who has it. The name CHARGE comes from a pattern of medical features that can include differences in the heart, hearing, vision, breathing, growth, balance, and development . Because CHARGE is so rare, finding knowledgeable medical support can be incredibly hard — especially for families living in rural or remote areas . Many parents spend years educating doctors, coordinating dozens of specialists, and traveling long distances just to access basic care. Finding trained caregivers, therapists, or educators who truly understand CHARGE can feel nearly impossible. And CHARGE doesn’t end with childhood. Across a lifetime, individuals with CHARGE may face: Multiple surgeries and ong...

  Most people haven’t heard of CHARGE Syndrome (including doctors who say, "This is my first patient with CHARGE")— and that’s part of the challenge. CHARGE syndrome is a  rare genetic condition , affecting roughly  1 in 10,000 births . It’s complex, lifelong, and looks different for every person who has it. The name  CHARGE  comes from a pattern of medical features that can include differences in the  heart, hearing, vision, breathing, growth, balance, and development . Because CHARGE is so rare,  finding knowledgeable medical support can be incredibly hard  — especially for families living in  rural or remote areas . Many parents spend years educating doctors, coordinating dozens of specialists, and traveling long distances just to access basic care. Finding trained caregivers, therapists, or educators who truly understand CHARGE can feel nearly impossible. And CHARGE doesn’t end with childhood. Across a lifetime, individuals with CHARGE ma...