Through ALD Newborn Screening, affected children have the opportunity to benefit from lifesaving treatment. While treatment through a cord blood/stem cell transplant or gene therapy can slow the progression of the disease, it is not considered a cure. Unfortunately, myelin that has already been damaged cannot be repaired by this treatment. This is why it is important for ALD disease to be detected as early as possible before symptoms begin, ideally through each state including ALD in their newborn screening program.
“Families tell us that knowing about the child’s disease is of course stressful but knowing and having the ability to be proactive, educated, and receive the support and guidance from the medical professionals has been illuminating at a time when the bad news was overwhelming. Treatments are available and can be implemented rapidly before the body has become irreversibly affected. We are fortunate to have medical therapies that were not available in years past and in order to provide optimal care to the affected children, catching the disease before it has stolen the child’s neural and hormonal integrity is key to their long term survival and optimal outcomes.”
– Hillary Raynes, M.D. Associate Professor, Pediatric Department of Neurology Mount Sinai Hospital & Mabel Yau, M.D. Assistant Professor, Pediatrics Division of Pediatric Endocrinology and Diabetes, Icahn School of Medicine at Mount Sinai