Newborn Screening is a process of testing newborns for certain genetic disorders, which has vastly developed since the early sixties when Dr. Robert Guthrie pioneered the early screening for phenylketonuria otherwise known as “PKU”.
Blood samples are taken by pricking a baby’s heal and placed on a filter paper which is then sent off to a newborn screening lab. Over time, other disorders were added to newborn screening programs including those detected through Tandem Mass Spectrometry called inborn errors of metabolism.
Newborn Screening has virtually been unknown to the public since its implementation. Most parents like us had little to no information as a result of general lack of knowledge and awareness even in the medical field. Most often, it has been unfortunate circumstances like ours that have brought newborn screening to the forefront of medicine.
It became personal for our family when Stephen fell victim to lack of comprehensive screening at birth and left with multiple disabilities and complex medical issues after a late diagnosis of Isovaleric Acidemia. With the realization that screening at birth could have spared Stephen the life altering consequences inflicted upon him, we became proactive in raising awareness and educating people about newborn screening.
Caroline’s early detection of IVA made our story all the more compelling. Tom initiated the process with speaking at our church’s large congregation, and then we broadened our story to the public through local media opportunities. The Inaugural meeting of the Health and Human Services’ Heritable Disorders and Genetic Diseases in Newborns and Children Advisory Committee provided a vital opportunity to tell Stephen’s story to an audience that could have a profound effect on the future of newborn screening. I have attended all meetings to date and provided important parental input and perspective on these disorders and life after a late diagnosis. In December of 2006, I was appointed to a four year term on the committee as a consumer representative. I had the privilege of speaking to physicians at the Northern Virginia Pediatric Society in November of 2004 on the consequences of a newborn screen. Ongoing research has provided much needed knowledge of various disorders and improved the screening and protocols for treatment and follow up of disorders. As a result, babies are being diagnosed early and living normal lives and spared outcomes like Stephen’s due to lack of early detection.
In 2005, the American College of Medical Genetics made a recommendation to the Heritable Disorders and Genetic Diseases in Newborns and Children that every state should be screening for 29 disorders. This recommendation came at an opportune time as I spoke before the Virginia Genetics Advisory Committee in October of 2005 addressing Virginia’s newborn screening program. I continued my quest to see Virginia’s newborn screening program expanded by going to testify at General Assembly subcommittee hearings accompanied by Tom, Stephen and Caroline on behalf of legislation to support it. We felt very accomplished when the Governor signed House Bill 1824, sponsored by Delegate Jeff Frederick, into affect to expand Virginia’s Newborn Screening Program from 9 to 29 disorders. The expansion commenced on 1 March 2006 and at the completion of the first year, 32 babies were detected with the newly added disorders. We define that as success!
I continue my advocacy work through the Organic Acidemia Association as a member of the Board of Directors and my involvement with the national and state advisory committees as well as the New York Mid-Atlantic Regional Collaborative. I am published in Exceptional Parent Magazine, “My Poster Family” and I have appeared in several media interviews to include The Wall Street Journal, Newsweek Magazine, The Potomac News, The Washington Post, CBS News, NBC News, Pregnancy Magazine and most recently, Ivanhoe Broadcasting. Working with the Children’s National Medical Center’s LEND (Leadership Education in Neurodevelopmental Disabilities) Program has also provided another avenue of educating professionals working with children with neurodevelopmental disabilities about newborn screening.
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