MDA is conducting a survey designed to assess the experiences of parents in the United States whose babies underwent newborn screening at the time of birth, with an eye toward the future possibility of newborn screening tests being recommended for certain neuromuscular diseases in which therapy development is advancing rapidly.
Newborn screening is the widespread practice of screening babies for certain diseases that can be detected at birth, and in which earlier treatment is available and definitively linked with better outcomes. In the U.S., the conditions that make up newborn screening panels vary from state to state. Currently, only two diseases in MDA's program (Pompe disease and carnitine palmityl transferase deficiency) are included on any state’s screening panel.
Learning early that a child has a neuromuscular disease would allow any potential treatments to begin as soon as possible (even an experimental treatment, with parental consent), before the disease has done irreversible damage to muscles. Early diagnosis also could inform parents’ future reproductive choices, and eliminate the long and frustrating “diagnostic odyssey” many families undergo before receiving a diagnosis.
All parents of children — with or without muscle disease — who were born in the United States and who underwent newborn screening are encouraged to respond to the survey located on the MDA website.
The Newborn Screening Survey will help MDA learn more about parents' thoughts regarding the newborn screening process they experienced when their children were born, and the factors they consider important in a neuromuscular disease newborn screening process.
MDA has been working with policymakers to investigate the potential for expanding newborn screening panels to include those diseases for which therapy development is proceeding rapidly, such as Duchenne muscular dystrophy and spinal muscular atrophy. On Sept. 12 and 13, the Association is hosting the 2012 MDA Muscle Disease Symposium on Newborn Screening for Duchenne Muscular Dystrophy (DMD) in Washington, D.C.
Although the symposium is focused on newborn screening in DMD, it's expected to help shape MDA's position and policy with regard to newborn screening in other diseases under its umbrella, as well.
To learn more about newborn screening, please read Screening Newborns for Neuromuscular Diseases Has Pros and Cons.