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July 3, 2006

Commentary on Expanded Newborn Screening for Biochemical Disorders: The Effect of a False-Positive Result by Gurian et. al., Pediatrics, June, 2006
Kelly R. Leight
CARES Foundation, Union, NJ, USA

I strongly encourage further consideration of the conclusions made by Gurian et. al. in their paper entitled Expanded Newborn Screening for Biochemical Disorders: The Effect of a False-Positive Result as printed in the June 2006 issue of Pediatrics. While these researchers should be commended for examining the effects of false-positives and recommending improved communication with parents regarding newborn screening, they have failed to weigh the severe physical, emotional and financial trauma incurred by infants and their families when not detected by newborn screening.

CARES Foundation, Inc. is a non-profit organization that provides support to individuals and families affected by Congenital Adrenal Hyperplasia (CAH), and I serve as its Executive Director. I am also the parent of a child with a form of CAH. I have seen the devastation that can occur when states fail to screen or set their threshold levels too high. I have spoken with numerous families of CAH-affected children and have listened to their stories of the trauma they and their babies have experienced due to non-existent or false-negative newborn screening results. There is no story as poignant, however, as that of Timothy Wyatt Nichols of Barracksville, West Virginia, one of four states remaining that do not test for CAH.

Timmy was born on June 17, 2003. A few weeks premature, but other than that an apparently perfectly healthy little boy, he was released from the hospital to go home just a week after his birth. In the first two weeks of little Timmy's life, he endured projectile vomiting, lethargy and losing weight so rapidly that he dropped an entire half-pound in one day. On June 30th he went into cardiac arrest - at one time going for two hours and nineteen minutes without a heartbeat - and subsequently suffered the destruction of the bone, surrounding muscles, tendons, and blood vessels of his lower right leg by a botched intraosseous access. By six months of age he had incurred over $1 million in medical expenses, spent nearly every day of his life in the hospital, and his mother had lost her job, home and Timmy's father. All of this the result of an adrenal crisis that could have been prevented if Timmy had been properly screened for CAH at birth.

Surely, the physical, emotional and financial trauma endured by Timmy, his family and others like them across the country far outweigh the stress parents may feel, changes in family dynamics and perceptions of the child's health caused by false-positive test results.

Better education of expectant parents about newborn screening as well as the implementation of second-tier testing to reduce false positives in CAH will help to alleviate parental distress over false postive newborn screening results while continuing to detect those children affected and prevent unnecessary tragedies like those suffered by Timmy Wyatt Nichols.

Letter as printed in Pediatrics in October 2006, can be found at: PEDIATRICS Vol. 118 No. 4 October 2006, pp. 1801a-1802 (doi:10.1542/peds.2006-1942)