Advocate for Newborn Screening in VA!

The fate of newborn screening for Pompe disease and MPS-1 throughout the state of VA will be determined next week.
The VA Newborn Screening Advisory Committee meeting will take place on December 7, 2017 in Richmond, VA. This meeting will determine if Pompe and MPS-1 will be added to the Newborn Screening panel for the Health Commissioner.

All forms of Pompe disease yield better outcomes with early treatment. This is a key consideration for committee members. The committee needs to know that a patient’s quality of life will be improved if they’re diagnosed in infancy rather than later in life. Infantile Onset Pompe patients who are untreated typically don’t survive their first year.

There have been some roadblocks in the quest to add Pompe disease to the screening panel. One roadblock for Pompe’s addition to the screening panel has been something rather simple, the naming convention of a varying form of Pompe. Some people with Pompe disease are considered “late onset”. This may lead someone to believe that testing in infancy is less important, however, the term is misleading. Late onset Pompe patients may present symptoms within the first year of life, they just may lack some of the presentations of Classic Infantile Pompe.

If screening for Late Onset Pompe is not included in the panel, children may suffer for years without a diagnosis, or with misdiagnoses. Irreversible muscle damage can occur while these patients are going without the correct treatment.

“Any delay in diagnosis and treatment results in inadequate or less than optimal clinical outcomes.” – Dr. Priya Kishnani

If you or a loved one are living with Pompe disease and would like to speak in support of adding Pompe to the newborn screening panel in VA, please register with Jennifer Macdonald, below.

Jennifer O. Macdonald, MPH, BSN, RN
Public Health Nurse Manager
Virginia Newborn Screening and Birth Defects Surveillance Programs
Virginia Department of Health
109 Governor St., 9th floor
Richmond, VA 23219
(P) 804-864-7729 (F) 804-864-7807
[email protected]

If you would be interested in coordinating with a Patient Worthy representative (myself) please feel free to contact me via [email protected]

 

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