PEDIATRICS Vol. 118 No. 4 October 2006, pp. 1801a-1802 (doi:10.1542/peds.2006-1942)
LETTER TO THE EDITOR |
The Physical, Emotional, and Financial Trauma Incurred by Infants and Their Families When an Existing Condition Is Not Detected by Newborn Screening
Kelly R. Leight, EsqCARES Foundation, Inc
Union, NJ 07083
To the Editor.—
I strongly encourage further consideration of the conclusions made by Gurian et al in their article "Expanded Newborn Screening for Biochemical Disorders: The Effect of a False-Positive Result."1 Although these researchers should be commended for examining the effects of false-positive results and recommending improved communication with parents regarding newborn screening, they failed to weigh the severe physical, emotional, and financial trauma incurred by an infant and his or her family when an existing condition is not detected by newborn screening.
The CARES Foundation, Inc, is a nonprofit organization that provides support to individuals and families who are 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 for a condition 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 infants have experienced because of nonexistent or false-negative newborn screening results. There is no story as poignant, however, as that of Timothy Wyatt Nichols of Barracksville, West Virginia, 1 of 4 states remaining that do not screen for CAH.
Timmy was born on June 17, 2003. Born a few weeks premature but otherwise an apparently perfectly healthy little boy, he was released from the hospital just 1 week after his birth. In the first 2 weeks of little Timmy's life, he endured projectile vomiting, lethargy, and weight loss so rapid that he dropped an entire half-pound in 1 day. On June 30th he went into cardiac arrest (at one time going for 2 hours and 19 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 6 months of age he had incurred over $1 million in medical expenses and 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 was 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 and his family (and others like them across the country) far outweigh the stress parents may feel and the changes in family dynamics and perceptions of the child's health that are 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-positive results in CAH screening would help to alleviate parental distress over false-positive newborn screening results while continuing to detect those children affected and prevent unnecessary tragedies such as those suffered by Timmy Wyatt Nichols.
REFERENCE
- Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics. 2006;117
:1915
–1921
[Abstract/Free Full Text]
PEDIATRICS (ISSN 1098-4275). ©2006 by the American Academy of Pediatrics
CiteULike 
Connotea 
Del.icio.us 
Digg 
Facebook 
Reddit 
Technorati 
Twitter What's this?
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
