A Worthwhile Investment: Universal Newborn Screening

Ali Chaudhry, Staff Writer

Hunter Kelly was born on Valentine’s Day, February 14, 1997, blessed to share his birthday with his proud father, Jim Kelly, a member of the Pro Football Hall-of-Fame and a former quarterback for the Buffalo Bills.1 After passing all of his newborn tests with flying colors, the healthy boy went home in loving arms.2

But the diagnosis failed to screen the newborn for all treatable diseases.  Within his first month of life, Hunter began showing symptoms of discomfort which would only later compound into episodes of irritability and bouts of screaming and stiffening of the arms and legs.3 At first, the family’s pediatrician diagnosed Hunter with colic.4 All efforts to ease the ailment, however, failed.  It became apparent that Hunter was failing to achieve essential developmental milestones.  As he turned four months old, Hunter was having trouble swallowing and was suffering mild seizures.5 Soon, the news became even more devastating.

At four months old, Hunter was diagnosed with Krabbe Leukodystrophy (also called Krabbe Disease),6 an inherited nervous system disease, which is caused by a genetic deficiency that one in 125 people in the United States carries.7 At the time of Hunter’s birth, New York did not screen for this disease in newborn babies.8 It is a treatable disease; but when left untreated, it is typically fatal before age two.9 After eight years of pain, a dozen bouts of pneumonia, and years of physical therapy, Hunter lost his battle.10 One singular, simple finger prick and blood test could have saved Hunter from this fate.11

Hunter’s Hope Foundation, established in 1997, is the Kellys’ commitment to increasing public awareness of Leukodystrophies and to increasing the likelihood of early detection and treatment in all newborn babies.12 Their ultimate goal is to raise money to fund research efforts to identify new treatments, therapies, and a cure for Krabbe and other leukodystrophies, as well as to promote Universal Newborn Screening (UNS).13 Hunter’s Grandmother and CEO of Hunter’s Hope explains:

[E]ach year in the United States thousands of children die and many more thousands become permanently disabled because their parents and doctors did not know they had one of. . . [fifty-four] treatable diseases.  These diseases can be identified through the existing Newborn Screening Program – one heel prick in the hospital after birth.  Many states do not screen for all of these diseases, but they could.  This knowledge can save children’s lives.14

UNS is a state-based public health system that is essential for preventing a number of medical conditions not recognizable at birth. Even though all babies born in the United States receive newborn screening, the number of diseases screened for is determined by the state in which a child is born, and there is great variation.15 In 2004, a report released by the American College of Medical Genetics (ACMG), commissioned by the Maternal and Child Health Bureau (MCHB) of the Department Health and Human Services, identified twenty-nine conditions as primary targets for screening, as well as an additional twenty-five conditions that could be identified in the course of screening, for a total of fifty-four conditions that should be checked for in all newborn babies in every state.16 Most states test only for the core twenty-nine diseases, while a few states such as New Jersey, Pennsylvania, Arizona, and Washington test for even fewer than that.17 Only one state, Minnesota, tests for all fifty-four conditions;18 Pennsylvania currently tests for as few as thirteen.19 It is estimated that with the expansion of newborn screening panels across the states, about 10,000 of the 4.1 million babies born each year in the United States will be identified with one of the conditions for which treatment and care can be provided at an earlier stage.20

The efforts of Hunter’s Hope have not gone unnoticed.  In 2008, President Bush signed into law the Newborn Screening Saves Lives Act.21 The bill expanded screenings of newborn babies for congenital, genetic, and metabolic disorders and authorized a grant program to increase funding to state and local health agencies to improve screening techniques.22 In total, the bill authorized $44.5 million to fund research and development, training, and counseling programs, with the amount increasing each year through 2012.23 Thus, many states are now aware of a growing need to increase screening in newborn babies and to comply with the recommendations of the ACMG.

As mentioned above, Minnesota is the national leader in newborn screening, using a heel prick to test all newborns for at least fifty-four diseases that can be treated if detected early, preventing permanent disability and deaths.24 New York, however, is not far behind and is rapidly catching up. Largely due to Kelly’s efforts, New York has expanded its newborn screening system.  As recent as 2004, New York was screening newborn babies for only ten diseases.25 By the summer of 2005, this number had expanded to more than forty disorders.26 Today, New York screens for fifty-one diseases in total. 27

Several other factors should make New Yorkers proud of the state’s response to this issue.  To begin, all states have various numbers of births every year.  While approximately 73,000 babies are born in Minnesota every year, New York screens 252,300 newborn babies annually.  Furthermore, New York is one of the very few states that does not charge families at all for screening,28 which cost the state $11.9 million this fiscal year alone.2 9 Some states charge more than $100 per newborn; Minnesota charges approximately $101 in fees.30 Finally, New York is the only state in the country to currently test for Krabbe Disease, the same disease that took Hunter’s life.31 To continue protecting its newborns every year, New York should implement in entirety the recommendation of the ACMG and test for all fifty-four treatable diseases.  The mission of protecting our children is far too important and urgent to delay.

Amanda Sherman & Eric Schillinger, editors.

________________________________

1 Hunter’s Hope Foundation, Hunter’s Story:  Hunter at One and Two, http://www.huntershope.org/about/hunter_story.asp (last visited Feb. 15, 2009) [hereinafter Hunter’s Story].

2 Id.

3 Id.

4 Id.

5 Hunter’s Story, supra note 1.

6 Id.

7 Hunter’s Hope Foundation, Krabbe Disease, http://www.huntershope.org/krabbe/default.asp (last visited Feb. 15, 2009).

8 Chris Swingle, U.S. Moving to Universal Screening for Diseases in Newborns, But States Still Have Final Say, Democrat & Chronicl (Rochester), Jan. 28, 2009 [hereinafter Universal Screening], available at http://www.democratandchronicle.com/article/20090128/LIVING/901280315/1032.

9 Id.

10 Associated Press, Jim Kelly’s 8-Year-Old Son, Hunter, Dies, USA Today, Aug. 5, 2005, available at http://www.usatoday.com/sports/football/nfl/bills/2005-08-05-hunter-kelly-obit_x.htm.

11 Hunter’s Hope Foundation, Universal Newborn Screening, http://www.huntershope.org/UNBS/index.html (last visited Feb. 15, 2009) [hereinafter UNS].

12 Hunter’s Hope Foundation, About the Hunter’s Hope Foundation, http://www.huntershope.org/about/default.asp (last visited Feb. 15, 2009).

13 Hunter’s Hope Foundation, Our Mission, http://www.huntershope.org/about/our_mission.asp (last visited Feb. 15, 2009).

14 UNS, supra note 11.

15 Universal Screening, supra note 8.

16 Request for Public Comment on a HRSA Commissioned Report:  Newborn Screening: Toward a Uniform Screening Panel and System, 70 Fed. Reg. 11247-01 (Mar. 2, 2005).  See also Am. Coll. of Medical Genetics, Newborn Screening:  Toward a Uniform Panel and System, 2006, at 11, available at http://mchb.hrsa.gov/screening/.

17 Hunter’s Hope Foundation, Universal Newborn Screening: Diseases My State Tests For, http://www.huntershope.com/unbs/diseases.html (last visited Feb. 15, 2009).

18 Minn. Dep’t of Health, 2009 Newborn Screening Panel (2009), available at http://www.health.state.mn.us/newbornscreening/docs/panel2009.pdf [hereinafter Minn. Dep’t of Health].

19 Nat’l Newborn Screening and Genetics Res. Ctr., National Newborn Screening Status Report (2009), available at http://genes-r-us.uthscsa.edu/nbsdisorders.pdf.

20 Press Release, Am. Coll. of Med. Genetics, American College of Medical Genetics Commends the Signing of the Newborn Screening Saves Lives Act (Apr. 28, 2008 ) available at http://www.acmg.net/AM/Template.cfm?Section=Search2&section=Home_Page_News_Releases&template=/CM/ContentDisplay.cfm&ContentFileID=315.

21 See 42 U.S.C. § 300b-8 (2008).

22 Id.

23 § 300b-8(j).

24 See Minn. Dep’t of Health, supra note 18.

25 Save Babies Through Screening Foundation, New York:  Disorders Screened in New York, http://www.savebabies.org/states/newyork.php (last visited Feb. 15, 2009).

26 Id.

27 Chris Swingle, Kelly Calls for Universal Disease Screening for Newborns, Democratchronicle.com, Jan. 15, 2009, available at http://www.democratandchronicle.com/article/20090115/NEWS01/901150330/1002/NEWS.

28 National Newborn Screening and Genetics Resource Center, New York:  Newborn Screening Contact Information, http://genes-r-us.uthscsa.edu/resources/consumer/StatePages/NewYork.htm (last visited Feb. 15, 2009).

29 Chris Swingle, U.S. Moving to Universal Screening for Diseases in Newborns, But States Still Have Final Say, Democratchronicle.com, Jan. 28, 2009, available at http://www.democratandchronicle.com/article/20090128/LIVING/901280315/1032.

30 National Newborn Screening and Genetics Resource Center, Minnesota:  Newborn Screening Contact Information, http://genes-r-us.uthscsa.edu/resources/consumer/StatePages/Minnesota.htm (last visited Feb. 15, 2009).

31 New York began screening for Krabbe Disease in 2006.  See Kelly, supra note 27.

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