IDF volunteer Amy Walsh has been in contact with the Illinois Genetic and Metabolic Diseases Advisory Committee (GMDAC) since learning that Health and Human Services Secretary Kathleen Sebelius accepted the addition of SCID testing to the core panel of newborn screening conditions.
Amy shared her experience as a mother of a child with a T lymphocyte deficiency and joined the Illinois Newborn Screening Expansion subcommittee with the hopes of helping to draft a protocol regarding the proposal and approval of additions to the newborn screening test panel.
Amy emphasized that though her child continues to suffer the effects of a late diagnosis with ongoing medical issues, she was one of the lucky ones as her son could have easily not made it past his first birthday. Amy’s son was saved when he received a diagnosis of RAG 1, a condition that is picked up by the same TREC test used to diagnosis SCID and other T lymphocyte disorders, and received a bone marrow transplant. As Amy said in her speech to the GMDAC in September, “Aidan is lucky that he survived long enough to be diagnosed with his disease. His story is rare, in that he should have died before his first birthday. I hope that his story touches you to make sure that SCID newborn testing is implemented in the state of Illinois, so that no other parents have to see their child endure the pain and suffering that Aidan endured.”
Unfortunately, Amy was told that though Illinois recognized the importance and value of SCID screening, they were unable to move forward for another several years due to logistical issues. Still, Amy continued to participate in conversations with the GMDAC and her state legislators.
On February 7, 2011, Amy’s goal was realized! The Advisory Committee unanimously voted YES to recommend the addition of SCID to the newborn screening panel! This recommendation gives the Illinois Department of Health and the newborn screening laboratory permission to move forward with implementing SCID newborn screening on all infants born in Illinois. While the implementation process will take time, this is the first step to reaching that goal. Amy is very excited and determined to follow this process until Illinois has successfully begun screening all Illinois infants.
Please COMMENT below to tell us about the activities you are taking to make SCID newborn screening a reality in your own state! Comment or contact IDF through the CONTACT button at the top of the page to talk with someone about what is already happening in your state and how you can get involved. To learn more about the SCID Newborn Screening Campaign, check out the website! http://www.primaryimmune.org/advocacy_center/scid/scid_newborn_screening_initiative.asp