Adrenoleukodystrophy Affects 1 in 17,000 People; Early Screening Gives Best Chance for Healthy Life
(Hartford, CT) – U.S. Senator Richard Blumenthal (D-Conn.) today issued a letter to Health and Human Services Secretary Sylvia Burwell urging that the Department add to its list of recommended newborn screenings a test for Adrenoleukodystrophy (ALD). ALD affects 1 in 17,000 people and most severely affects boys and men. Early screening that gives babies the chance to receive immediate treatment before symptoms develop provides the best chance for a healthy life.
Last year, Connecticut passed a law requiring health institutions screen newborns for ALD, but similar protections do not exist for babies nationwide.
ALD is a genetic disorder that first manifests itself as a behavioral disorder, with affected children showing signs of withdrawal, difficulty concentrating, vision problems and coordination issues. Because children with ALD are frequently misdiagnosed and not screened at birth, acute symptoms of ALD often progress quickly, including blindness, deafness, seizures, loss of muscle control and progressive dementia.
“Although Connecticut has taken important steps to put this screening in place, efforts to implement this requirement in other states has been hindered by the lack of a federal mandate for an ALD screening,” Blumenthal states in the letter. “ALD is a condition that should be screened for at birth in order to give affected children a fighting chance to live a full life.”
"It is vital to get this test in place as soon as possible. It is proven to be truly lifesaving. Early detection will allow for treatment, setting these boys up for a normal and healthy life. We want to prevent other boys and families affected by ALD from facing the devastating, and life-changing challenges Brian has endured. We look forward to a day when no child will experience the effects of this insidious disease,” said Jean Kelley, a Branford resident and mother of ALD patient Brian Kelley and key advocate for the state’s screening law.
The full text of the letter follows:
November 26, 2014
The Honorable Sylvia Burwell
Secretary of Health and Human Services
Department of Health and Human Services
200 Independence Avenue, SW
Washington, D.C. 20201
Dear Secretary Burwell:
I am writing today in support of the recommendation that Adrenoleukodystrophy (ALD) be added to the Recommended Uniform Screening Panel (RUSP). Newborn screenings are critical to ensuring children born in the United States are tested for rare disorders for which there are life-saving treatments available.
Connecticut is currently implementing Public Act 13-242, “An Act Concerning Newborn Screening for Adrenoleukodystrophy,” which requires all health institutions to screen newborns for ALD. As you know, ALD is a genetic disease that destroys myelin, the protective sheath that surrounds the brain's neurons, which are the nerve cells that allow us to think and to control our muscles. ALD affects 1 in 17,000 people and most severely affects boys and men. Screenings would allow for affected babies to receive immediate treatment, before symptoms develop, and have the best chance at a healthy life. Although Connecticut has taken important steps to put this screening in place, efforts to implement this requirement in other states has been hindered by the lack of a federal mandate for an ALD screening.
The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) is tasked with advising and making recommendations to you in an effort to reduce morbidity and mortality in newborns and children who have, or are at risk for, heritable disorders. Specifically, DACHDNC provides recommendations on what disorders should be added to the Uniform Screening Panel. This is an immensely important role that impacts the health of American’s children, as an estimated 235 babies will be born this year with ALD. Despite being nominated to be a part of the RUSP in both 2012 and 2013, ALD has not yet been included. I understand that that an advisory group has been named to review the possibility of including ALD on the RUSP. I ask for your full support in ensuring that it is reviewed and included as soon as possible.
ALD is a condition that should be screened for at birth in order to give affected children a fighting chance to live a full life. The RUSP has the responsibility of recommending disorders to be screened and HHS has the authority to make the final determinations. I appreciate your consideration of my request that ALD be approved and added to the RUSP and I respectfully request a timeline for the RUSP's process. Please feel free to contact me should you have any questions.
United States Senate