States across the country have a new opportunity to improve the lives of thousands of children and families. Officials at the Department of Health and Human Services recently recommended that newborns be screened for Duchenne Muscular Dystrophy (DMD). They added DMD tests to the federal infant screening guide, recognizing that early detection makes treatment far more effective.
States May Enact Newborn DMD Screenings
Each state has the authority to decide which conditions are included in their newborn screening regimen, but most states—including Mississippi—follow the federal recommendations. For the sake of these precious children and families, I urge every single state to add DMD to their universal testing list as soon as possible.
DMD is a rare progressive disease. It impacts roughly 1 in 5,000 boys and sometimes affects girls. Patients gradually lose muscle strength, often leading to serious heart and lung challenges. These symptoms are tragic on their own. But DMD is all the more heartbreaking because it afflicts children, who should be running, playing, and growing.
The best way to combat the disease is by catching it as early as possible. There is no cure yet for DMD, though researchers have developed treatments that make life easier for patients. But these therapies and medications can extend lives and are most effective when delivered before the disorder has a chance to develop. When parents and doctors are able to identify the disease early, their children can live well into their 30s and better combat DMD’s debilitating effects.
This year is the 25th anniversary of my first encounter with DMD. A father came to my office to share with me that his son had been diagnosed, and he explained the disorder’s effects. We worked together to create the Muscular Dystrophy Community Assistance, Research, and Education (MD-CARE) Act, which directed federal research funding toward muscular dystrophies and focused research activities on finding cures. I rallied support for the legislation, and it became law in 2001.
The funding allowed researchers, scientists, medical providers, families, and advocates to make incredible progress. Patients now live longer, and their quality of life has improved. The most extraordinary results come when DMD is detected early in a child’s life. He is more likely to grow up with fewer of the debilitating symptoms that used to be inevitable for a DMD diagnosis.
Searching for More Medical Breakthroughs
My experience with DMD taught me that research investments can have dramatic impact. I have been motivated by the families, patients, and providers who have shared their stories with me over the years. Their lives show what we can accomplish, and they also reveal how far we have to go. Out of the 7,000 rare diseases, only 500 have Food and Drug Administration (FDA)-approved treatments.
In Congress, I have been working to close that gap. Last year, my colleagues and I introduced legislation to support the FDA’s Rare Disease Innovation Hub. That initiative is poised to improve outcomes for patients. Our bill, the Scientific External Process for Educated Review of Therapeutics (EXPERT) Act, would facilitate more collaboration in the fight against rare disease. It would allow the FDA to incorporate insights from a number of experts, including medication developers, academic researchers, and FDA reviewers. This gradual fact-finding, teamwork, and experimentation is what led to innovations in the past. I look forward to the breakthroughs that will emerge from this hub in the future, transforming the lives of patients all over the country.
