Rep. Marra Applauds HHS for Adding Duchenne Disease to Recommended Newborn Screening

[Bazinet, Jamison]

Rep. Marra Applauds HHS for Adding

Duchenne Disease to Recommended Newborn Screening

 

DARIEN – Reacting to recent news that the federal department of Health and Human Services (HHS) added Duchenne Muscular Dystrophy (DMD) screening to its recommended list of standard newborn testing procedures, State Representative Tracy Marra (R-141) today announced she plans to reintroduce her proposal to add this screening for Connecticut families.

After meeting with a constituent whose son is battling this rare disease, Rep. Marra has twice introduced legislation to add this important screening to Connecticut's current list of standard newborn testing procedures. The measure made it through the committee process but was never called for a vote in the General Assembly.

“This issue is very personal to Darien as we have a lovely little boy battling this disease, so I am absolutely thrilled to hear that HHS has added this incredibly important screening to its listed recommendations," Rep. Marra, a member of the Public Health Committee said. "Charlie's mom has been an inspiration and force for positive change and her advocacy and activism is making a difference for children and their parents nationwide.  We were so close to getting this passed in Connecticut last year, and I remain hopeful my colleagues will once again support my proposal to enshrine this screening into state law."

 

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. 

 

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.

 

“By screening for this disease at birth, we can provide Connecticut families with knowledge and access to critical treatment protocols that are key to creating positive outcomes," Rep. Marra said.

 

 

 

 

 

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Jamison C. Bazinet

Communications Specialist

House Republican Office

Public Affairs Department

Phone: (860) 240-8726

Email: Jamison...@cga.ct.gov