Sometimes it takes a tragedy to create real change. Last year, Connecticut joined the short list of states to implement an ALD newborn screening test, after the parents of a young man with a rare and deadly disease called adrenoleukodystrophy (ALD) lobbied their state legislature.
Today, the life-saving screening is part of the battery of tests that Connecticut hospitals are required to run on newborns within the first 48 hours of their lives.
Jean and Dr. Jack Kelley, the advocates for the Connecticut bill, cannot restore health to their 28-year-old son, Brian, who was diagnosed at age six after the disease had already affected his health. (Over the years, he has lost his ability to walk, talk, eat, and see as a result of ALD.) But the Kelleys hope that this new mandatory test will save the lives of other boys and help other families.
Adrenoleukodystrophy is a progressive, degenerative neurological disorder that destroys myelin, the protective sheath that surrounds the brain’s neurons — the nerve cells that process thought and muscle control.
It is primarily an inherited condition, passed down from mothers to their sons. There is no outward sign of the disease at birth, and it is typically not until age four to six when the first symptoms appear. Unfortunately, these initial signs (such as behavioral problems or difficulty concentrating) are often attributed to other, less life-threatening conditions, and ALD can go undetected and untreated until brain damage makes it apparent. This is why the screening test is so essential.
Although treatment is not always effective, early intervention is the only hope. In limited tests, Lorenzo’s Oil, an extract of olive oil and rapeseed oil, along with a low-fat diet, has been found to be effective in preserving the brain’s neurological balance among boys thought to have ALD. Stem cell transplants have also been a successful treatment, although also considered somewhat experimental at present.
In 2013, a bill was passed mandating ALD be added to the list of the required genetic and metabolic disorders to be tested in newborns, but implementation is another matter. In August 2016, Connecticut became the second state in the nation to enact the newborn screening. (New York added ALD to its screening panel in March 2013.) California followed suit. Click here to review the ALD’s Database with the current list of states that currently provide or are ramping up to provide screenings.
Fortunately, that list is growing. In February 2017, the Association of Public Health Laboratories (APHL) chose 11 state departments of health to receive financial support, training, and technical assistance for new disorder-related activities as part of the New Disorders Implementation Awards.
California, Florida, Iowa, Michigan, Minnesota, Nebraska, New Jersey, North Carolina, Ohio, Tennessee and Texas will receive funding to support full implementation of newborn screening for Pompe, mucopolysaccharidosis 1 (MPS-1) and X-linked adrenoleukodystrophy (X-ALD) and the establishment of Peer Network Resource Centers. Selected agencies will work closely with APHL’s Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) for successful implementation of their awards.