Public Hearing Friday, February 21: Screening Newborns for Duchenne Disease
State Representative Tracy Marra (R-141) today announced the legislature’s Public Health Committee will hold a public hearing on Friday, February 21st, on House Bill 6919 to add Duchenne Muscular Dystrophy (DMD) screening to Connecticut’s current list of standard newborn testing procedures.
Duchenne is a rare and fatal form of Muscular Dystrophy that usually affects boys beginning around the ages of 2-3-years-old. Like other forms of MD, Duchenne is a degenerative muscle disease that causes severe weakness in the lower extremities, and eventually can affect the respiratory system. The disease usually progresses to loss of movement and reliance on a wheelchair, cardiac and respiratory failure. The great news is that there are now new and innovative treatments for this degenerative disease including gene therapies.
“This is personal for Darien, as we have a lovely boy in our town who was diagnosed with this awful disease. Thankfully, early diagnosis, proactive actions by his family and the availability of a trial drug (that is now approved) have given this family hope” Rep. Marra, a member of the Public Health Committee said. “We need to make sure that all babies are screened so they will have the opportunity to access early therapy and treatments.”
According to the Muscular Dystrophy Association, researchers are working toward a cure and are pursuing many strategies, including “gene therapy, exon skipping, stop codon read-through and gene repair”, among others.
“Adding Duchenne to Connecticut’s standard newborn screenings can be life-changing, allowing medical professionals to diagnose the disease early and create a treatment plan for the family,” Rep. Marra said. “We have a chance to provide families with important knowledge and access to cutting edge treatments to create positive outcomes and provide hope to children diagnosed with this disease.”