July 21, 2014

Dev Nair, PhD, MPH
Director, Policy and Evaluation Division, OFHS
Commonwealth of Virginia
Patrick Henry Building
1111 East Broad Street
Richmond, VA 23219
 

RE: Support for Amendment to Administrative Code 12VAC5-71: Amend regulations to add Severe Combined Immunodeficiency (SCID) to the Virginia Newborn Screening System core panel of heritable disorders and genetic diseases.

In response to the proposed rule change to add SCID newborn screening to Virginia’s newborn screening protocol, the Immune Deficiency Foundation (IDF) would like to provide you with comments in support of this vital decision. 

Founded in 1980, IDF is the national patient organization dedicated to improving the diagnosis, treatment and quality of life of persons with primary immunodeficiency diseases through advocacy, education and research. These diseases occur in persons born with an immune system that is either absent or hampered in its ability to function. The World Health Organization recognizes more than 200 primary immunodeficiency diseases. Severe Combined Immune Deficiency (SCID), also known as “bubble boy” disease, is one of the rarest and the most devastating of these diseases. 

The diagnosis of SCID very early in life is a true pediatric emergency, and the decision to screen for SCID will literally save the lives of infants in Virginia.  Affected infants lack T lymphocytes, the white blood cells that help resist infections due to a wide array of viruses, bacteria and fungi. As a result, these babies, who appear healthy at birth, are extremely susceptible to serious illness and usually die if left untreated. 

The good news is that if a baby is diagnosed and treated, usually with a bone marrow transplant, within the first months of life, studies show that there is over a 90% survival rate.  If diagnosis is later, after infections have set in, even a successful bone marrow transplant does not guarantee survival and can still leave a patient with persistent health problems. There is but a small window between life and death for these babies. 

Considering the prevalence of SCID, it is estimated that 2-3 babies in Virginia will be born with SCID each year.

Twenty-one states, the District of Columbia and the Navajo Nation have already implemented newborn screening for SCID. Based on the screening done in these states, SCID is estimated to occur in approximately 1 in 40,000 to 1 in 70,000 births.  Newborn screening has led to the identification and treatment of dozens of infants with SCID and many more with other kinds of T lymphocyte deficiencies in those states that are screening.  All of these babies will now have the opportunity for early treatment and the chance of a normal, healthy life because they had early detection. 

Your approval of the pending regulations will save the lives of babies in Virginia.  We hope that Virginia will join the 21 other states that are currently screening for SCID.  If you need further information, please contact Emily Hovermale at ehovermale@primaryimmune.org or 443-632-2544. 

Sincerely,

Lawrence A. La Motte

Vice President, Public Policy