Our mission is to improve the quality of life for those living with ALD/AMN. A few of the ways we do this are by advocating for newborn screening, raising awareness, and advancing education.
In 2013, The Myelin Project sponsored California Assembly Bill 1559 – authored by former Assemblyman, now California Senator Dr. Richard Pan – in order to mandate newborn screening of adrenoleukodystrophy (ALD) in California. On September 25th, 2014, Governor Jerry Brown signed our bill into law making California the fourth state in the United States to pass legislation to screen newborns for ALD – a potentially life threatening genetic disease that is manageable if detected early, before the onset of symptoms. Currently, only New York and Connecticut are screening newborns ALD.
Newborn screening identifies conditions that can affect a child’s long-term health or survival. Each year, millions of babies in the U.S. are routinely screened, using a few drops of blood from the newborn’s heel, for certain genetic, endocrine, and metabolic disorders. Early diagnosis and proper disease treatment can make the difference between lifelong impairment and healthy development. Far too often when proper diagnosis of adrenoleukodystrophy (ALD) is finally reached it is too late to save the child affected. This tragic result can be prevented if the affected individual and their doctors know they have the disease and can obtain lifesaving treatments early enough. Testing newborns for ALD (like California does for more than 70 other diseases) is the way to do this.
On February 16th, 2016, Secretary of the United States Department of Health and Human Services, Sylvia Burwell, approved the addition of adrenoleukodystrophy (ALD) to the Recommended Uniform Screening Panel (RUSP), the federal list of genetic diseases recommended for state newborn screening programs. Assembly Bill 1559 mandated that California begin testing newborns for ALD once Burwell had approved this recommendation.
After meeting with the the California Department of Public Health in June of 2016, we received word from the Genetic Disease Screening Program (GDSP) that ALD screening will begin in mid-September of 2016. In addition, to comply with Assembly Bill 1559, GDSP will also begin screening the backlog of specimens received at our laboratory on and after February 16, 2016. A program announcement letter will be sent prior to the start date.
As a founding member of the World Leukodystrophy Alliance, we continue to collaborate with 14 other leukodystrophy organizations in order to leverage our resources to improve the quality of life for leukodystrophies patients by raising awareness and funding research projects. We have been participating in the Child Neurology Conference for the last two years in order to educate medical and research professionals about the leukodystrophies.
We are proud participants of Rare Disease Day, an international day of action which aims to raise awareness of rare diseases by targeting the general public, policy makers, public authorities, industry representatives, researchers, and health professionals. The political momentum resulting from Rare Disease Day also serves advocacy purposes. For this year’s Rare Disease Day on February 29th, 2016, The Myelin Project was at the State Capitol building in Sacramento, California with other rare disease advocates, state legislators, industry representatives, and the media.
Janis Sherwood, board member, has been traveling throughout the United States in a retrofitted RV raising awareness of ALD in order to help others avoid the same fate as her son Sawyer, who passed away from the disease after several misdiagnoses. To learn more about Janis, click here.
We are proud members of The National Organization for Rare Disorders (NORD), the official Sponsor of Rare Disease Day in the United States. Our goal is to increase the exposure of ALD, and to coordinate with other rare disease organizations to advocate for legislation and raise awareness of all rare diseases. For more than 30 years, NORD has been providing services for patients and their families, rare disease patient organizations, medical professionals, and those seeking to develop new diagnostics and treatments.