Parent Project Muscular Dystrophy (PPMD) is a nonprofit that focuses on fighting for a cure, better resources, and more awareness for Duchenne muscular dystrophy (DMD). More than a year ago they announced their Newborn Screening Pilot, which they are proud to announce has been screening babies in New York ever since.
About Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy is one of the nine forms of muscular dystrophy. Affected individuals experience progressive muscle weakness and wasting due to a lack of dystrophin. Symptoms include issues with motor skills, muscle weakness, falling, fatigue, issues with changing positions, problems walking, learning disabilities, and eventually heart disease and respiratory failure. All of these effects are caused by a mutation passed down on the X chromosome in a recessive pattern. There is currently no cure for this condition, but treatments can help to manage symptoms.
Screening for DMD
PPMD is committed to bettering the lives of DMD patients, along with ensuring that they receive the best treatment and resources that they can. To advance this goal, they launched a pilot program that aims to screen newborns for DMD or another form of muscular dystrophy.
In collaboration with the state of New York and the Newborn Screening Translational Research Network, this program was launched in October of 2019 and has already screened nearly 14,000 babies. Within these thousands, fourteen were referred to a specialist based on biomarkers that point to muscular dystrophy, and two were confirmed to have either Duchenne or Becker MD.
This program plays a role in the larger picture, which is stopping parents and children from the long, tough journey that a rare disease diagnosis typically is. It also helps by building up the screening network for Duchenne within the US.
PPMD is proud and excited that their efforts are helping those with DMD and their families, but their newborn screening is not the only way that they are doing so. In fact, they are working hard to ensure that the Newborn Screening Saves Lives Act is reauthorized.
They want to ensure that language specific to Duchenne’s remains in the act so that efforts and resources remain focused on Duchenne. Other actions on the PPMD’s agenda include engaging with the federal Advisory Committee on Heritable Disorders for Newborns and Children and continuing to lead the screening initiative even during the pandemic.
Hopefully they face a lot of success in the future, as it would also mean progress for those with Duchenne muscular dystrophy.
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