For the first 1,000 days of my 7-year-old son’s life, my husband and I knew something was wrong with him —we just didn’t know what it was.
As we watched Charlie struggle to get up off the floor, waited for him to crawl (he never did) and finally saw him take his first steps at 22 months, we began to doubt what our pediatrician told us, time and again: that it was likely nothing to worry about. After all, doctors are taught to look for horses, not zebras, when hooves stampede in.
It turns out, we have a zebra. But it took three years to get his diagnosis, Duchenne muscular dystrophy, because the system is not primed to readily pick up on the often-murky clues the disease provides early on. Our instincts finally led us to self-refer to a neurologist for testing, but we know from evidence that Duchenne often requires a lengthy diagnostic odyssey.
To fix this problem, Connecticut should become the nation’s fifth state to add Duchenne to the standard newborn screening babies already receive and give parents the early answers they need to care for their children. The Assembly must recognize the long-term logic of a modest upfront cost and act to pass H.B. 6919 this session.
Duchenne is a relentless, fatal neuromuscular condition that impacts one in 3,500 boys. As one of the most prevalent gene disorders in males, it’s far more common than other disorders already tested on Connecticut’s newborn panel. Without a healthy gene that codes for the protein dystrophin, muscles impacted by Duchenne waste away every day. It leaves boys in a wheelchair by their early teens, then dying from heart failure in young adulthood. It is a diagnosis that changes life as you know it, forever.
Until recently the Duchenne community lacked effective therapies, but science has shown up in spades; we are at a turning point, with nine FDA-approved therapies—three approved in the past year alone—and many more in the pipeline. Once my son was finally diagnosed, we got lucky: Charlie turned four just in time to qualify for a Phase 3 trial of a gene therapy, which has significantly improved Charlie’s stamina and strength. The simple childhood acts of jumping and running without fatigue are newer skills for my son, powered by science, and we will never take them for granted.
Charlie’s gene therapy, Elevidys, is one of the newly approved drugs available for Duchenne, and research shows that the earlier patients access specialized care and treatment, the better. Yet despite decades of awareness efforts, the average age of diagnosis remains static at five years old. We currently screen newborns for more than 60 conditions, but to families impacted by one of the most common genetic errors we say: Good luck.
The cost of delayed Duchenne diagnosis is both human and monetary. Adding the simple, FDA-approved test for Duchenne to the existing heel prick performed on newborns would add up to just $8 more per patient, generally covered by insurance. That’s a drop in the bucket in our state’s budget. Further, this modest expenditure would save our health care system an estimated $212,000 for each child who is ultimately diagnosed with Duchenne, by putting an end to the costly, completely avoidable diagnostic odyssey.
For my family, the cost we carry is also a heavy sense of guilt. Without a diagnosis, we enrolled Charlie in the state-funded Connecticut Birth to Three early intervention program at our pediatrician’s recommendation as he missed developmental milestones, unwittingly pushing his damaged muscles to the brink. That lost muscle is gone for good; for now, science does not have a solution for damage already done. In fact, every day that passes without diagnosis and treatment represents more muscle function lost to Duchenne.
Time is muscle —and that’s why time is of the essence for Connecticut to act.
Leaders on both sides of the aisle have immediately recognized the logic of applying ready science to eliminate diagnostic guesswork and change outcomes for boys born with this catastrophic genetic error. Legislation to add Duchenne to the standard newborn screen just passed unanimously out of the joint Public Health Committee, and H.B. 6919 now awaits passage through the full House and Senate. Now it’s up to members of the full Assembly, beginning with the Appropriations Committee, to acknowledge the good sense in spending an extra $8 per baby to avoid hundreds of thousands of dollars in costs to our system.
If passed and enacted by Gov. Ned Lamont, this bill will represent the very best of government, expediting simple, low-cost solutions that change real lives. By continuing to come together and acting with haste this session, lawmakers can give families and their physicians the best first tool to face this disease: the awareness they need to act.
Jennifer Handt of Darien is a writer and communications advisor and founder of Charlie’s Cure.