Decade-long campaign by the Immune Deficiency Foundation and numerous partners realizes goal of testing every child in the United States for this life-threatening disease
Challenging work remains to address gaps in testing and care for people with SCID
(Towson, MD) – Beginning December 10, 2018 all children born in the United States will be tested for Severe Combined Immunodeficiency (SCID), a life-threatening disorder and one of the most severe forms of primary immunodeficiency diseases (PI). Louisiana was the 50th state to officially screening newborns for SCID beginning this December.
For more than 10 years, the Immune Deficiency Foundation (IDF), along with dedicated volunteers and partner organizations, have worked to implement universal screening for SCID in the U.S., making sure all babies have a chance at a healthy, happy life.
“Reflecting on this significant milestone of bringing SCID screening to all 50 states, there are two groups of people that come to mind,” said John G. Boyle, President & CEO of the Immune Deficiency Foundation. “The first is the families affected by SCID, medical professionals, legislators, public health professionals, and nonprofit organizations who all worked together to achieve a goal that seemed nearly impossible a decade ago. We are grateful for their dedication and hard work. The second group that comes to mind is the young SCID people with SCID, many of them are now children as old at 8 or 10 years of age, who are alive and thriving because screening was brought to their state. That is the most striking and important element of this achievement.”
Wisconsin was the first state to test for SCID beginning in 2008. In 2010, the Department of Health and Human Services (HHS) announced the addition of SCID to the recommended uniform screening. Other states soon began following Wisconsin’s lead.
State by state, IDF worked with local organizations, legislators and statewide public health officials to break down the barriers and have SCID added to the newborn screening panel in each state.
“It is gratifying to see all 50 states now testing for SCID, but the challenge does not end with universal testing,” said John M. Routes, MD, Section Head, Allergy/Clinical Immunology, Medical College of Wisconsin/Children’s Hospital of Wisconsin, a pioneering advocate for SCID newborn screening and a member of the IDF Medical Advisory Committee. “Many infants who test positive for SCID face a challenging road to firm diagnosis and successful treatment. I am proud to be working with IDF to help ensure clinicians and patients throughout the U.S. get the resources they need.”
Supporting Screening – Filling Gaps to Successful Care
IDF recently began work under a grant from the Health Resources and Services Administration (HRSA) to launch a two-year program—SCID Compass—to improve outcomes for infants detected through newborn screening. The SCID Compass program is designed to increase awareness and knowledge about SCID, support state newborn screening programs, link families, especially those living in medically underserved areas, to services and develop long-term follow-up strategies for infants identified through newborn screening.
“The screening of every child born in the U.S. will undoubtedly save lives, but there is more work to do,” said Heather Smith, President and Co-Founder of SCID Angels for Life Foundation. “SCID Compass will help families navigate through detection and diagnosis to treatment and life management. The program will connect families whose babies test positive for SCID with the resources, information and support they need during an extremely challenging time.”
As SCID newborn screening has increased in volume across the country, it has also demonstrated an increased prevalence of SCID. When screening first began in 2008, it was believed roughly 1 in 100,000 newborns would test positive for the disease. At present, the estimated incidence of SCID has increased to 1 in every 40,000 newborns.
SCID is a potentially fatal primary immunodeficiency in which there is combined absence of T lymphocyte and B lymphocyte function. There are at least 13 different genetic defects that can cause SCID. These defects lead to extreme susceptibility to very serious infections. This condition is generally considered to be the most serious of the primary immunodeficiencies. Fortunately, effective therapies, such as hematopoietic stem cell transplantation, enzyme replacement therapy and gene therapy, exist that can treat the disorder.
In the 1970’s and early 1980’s, many around the world first heard of SCID when a Texas boy, David Vetter, affectionately known as the boy in the bubble, was born with the disorder and lived in protected environments to maintain relatively germ-free surroundings. While David tragically passed away at the age of 12, his life was a catalyst for the improvement of SCID treatment and more widespread testing.
“David’s life was a great blessing to our family and the world,” said his mother Carol Ann Demaret. “As time passes, there will be less and less people who recall the specific details of his too brief life, but his legacy will live on in the lives of children who benefit from the nationwide adoption of screening and continual advancements in treatment for this terrible disease.”
For more information about SCID, please visit: www.primaryimmune.org/SCID.
About the Immune Deficiency Foundation
The Immune Deficiency Foundation (IDF), founded in 1980, is the national nonprofit organization dedicated to improving the diagnosis, treatment and quality of life of people with primary immunodeficiency diseases (PI) through advocacy, education and research.
There are approximately 250,000 people who have been diagnosed with PI in the U.S. IDF provides programs, services and publications for patients and families as well as for healthcare professionals caring for those living with PI. IDF works to address needs of people living with PI through public policy programs by focusing on issues such as insurance reimbursement, patient confidentiality, ensuring safety and availability of immunoglobulin therapy, and maintaining and enhancing access to treatment options.