Parents: Critical Stakeholders in Expanding Newborn Screening

Parents: Critical Stakeholders in Expanding Newborn Screening

• Lainie Friedman Ross, MD, PhD
,
• Darrel J. Waggoner, MD

Received 3 January 2012; received in revised form 28 February 2012; accepted 18 April 2012. published online 25 June 2012.
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Lysosomal storage diseases (LSD) are rare genetic conditions that can affect individuals at different stages of life. Hunter Kelly (February 14, 1997 to August 5, 2005), the son of former Buffalo Bills quarterback Jim Kelly, died of complications from infantile Krabbe disease, one of the LSDs.¹ Bone marrow transplantation can sometimes slow down the progressive neurologic symptoms caused by Krabbe disease.² Mr Kelly advocated that the New York State Public Health Department screen for Krabbe disease to diagnose it early enough that bone marrow transplantation is an option. In August 2006, New York implemented Krabbe screening into its mandatory screening program.

ACMG, American College of Medical Genetics, HRSA, Health Resources and Services Administration, IRB, Institutional review board, LSD, Lysosomal storage diseases, SACHDNC, Secretary's Advisory Committee on Heritable Disorders in Newborns and Children