OPINION:
As September marks Newborn Screening Awareness Month, there is no better time to focus on the goal of this life-changing process: to save and improve the lives of children nationwide. I am intimately familiar with the way this seemingly simple test can make the difference between life and death. My quest to improve newborn screening started in 2012 while I lay in a hospital bed next to my 7-year-old son, Aidan.
Aidan was dying from adrenoleukodystrophy, a rare genetic condition that can rob children of all of their abilities. I watched as my once-spunky, blue-eyed boy lost the ability to see, hear, walk, talk and eat. If Aidan had been tested for ALD at birth, he could have been monitored and treated and gone on to live a normal, healthy life.
Devastatingly, Aidan’s late diagnosis cost him his life. He died after 10 months in the hospital. This is my “why”: I want to change this for other families.
Newborn screening seems self-explanatory: a quick heel prick after birth, and five drops of blood are sent to a state lab and tested. The reality is far more complicated. The numbers and types of conditions tested vary by state. The process is layered with bureaucracy. Most troubling is that our system is failing to keep pace with medical advances that could save more lives.
The Advisory Committee on Heritable Disorders in Newborns and Children was a recently disbanded federal committee. Its primary purpose was to review conditions nominated for newborn screening and then recommend them to the states through the Recommended Uniform Screening Panel. Each state has the option to determine when or whether to add these conditions to its panels; sadly, this disparity leads to “Death by ZIP code.” One state can test for 32 conditions and another 38, so whether your child will live or die becomes the luck of the geographic draw.
As we stand at a critical juncture in health care reform, we are grateful to Health and Human Services Secretary Robert F. Kennedy Jr. for his leadership in recognizing the inefficiencies that plague our system. With an unwavering commitment to saving children and taxpayer money, we can reshape our approach to the newborn screening system to better serve patients and their families.
First, we must add metachromatic leukodystrophy and Duchenne muscular dystrophy to the Recommended Uniform Screening Panel. Both were slated for a vote before the committee’s disbandment, and early detection is critical for treatment.
Next, we need a system to review newborn screening conditions led by a reformed maternal and child health committee that prioritizes patient voices and scientific integrity through a series of bold initiatives:
• Restructure the Advisory Committee on Heritable Disorders in Newborns and Children or create a mechanism to review conditions.
• Establish a system where tie votes are eliminated, allowing for clear and decisive outcomes in committee decisions.
• Include patients on the committee. It’s vital that those directly affected by the health care system guide decision-making.
• Empower patients to ask questions.
• Remove the N of 1 rule, which requires that a condition be found in a state pilot program before federal approval.
• Make conditions eligible for treatment and care be driven by scientific evidence and the medical needs of the population.
• Don’t pause the review process. Ongoing evaluation of conditions is crucial for maintaining high standards of care.
• Don’t relitigate Food and Drug Administration-approved treatments.
By advocating for these principles, efficient, inclusive and responsive to the needs of newborns and their families, we can honor Mr. Kennedy’s commitment to saving the lives of America’s children.
• Elisa Seeger is the founder of the ALD Alliance, which aims to cure, support and advocate for adrenoleukodystrophy patients and advocate for nationwide newborn screening.
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