We received word from the California Department of Public Health’s Genetic Disease Screening Program (GDSP) that adrenoleukodystrophy (ALD) screening will begin in mid-September. 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 for 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.
The following message is from the GDSP:
“The Genetic Disease Screening Program (GDSP) would like to share the latest news on newborn screening for Adrenoleukodystrophy (ALD) with the ALD community. My name is Jamie Matteson and I am the newest member of the Newborn Screening Program. I am working on the implementation of ALD screening in California and will be assisting Lisa Feuchtbaum with communications within our ALD community. Please see below for the latest news on the ALD screening in California.
CA ALD Listserv: We are creating a CA ALD Listserv as a direct way for the Newborn Screening Program to communicate to our ALD centers, advocates and providers. The Listserv will provide members an opportunity to discuss any new issues or updates that come up in the ALD field. To become a member of the CA ALD Listserv, contact Jamie.Matteson@cdph.ca.gov.
June 24th ALD Program Implementation Meeting: We received feedback that not all participants of the June 24th ALD Program Implementation Meeting received the meeting summary that was emailed out. Attached is a copy of the meeting summary as well as an updated version of the ALD Screening Flow Chart. If you would like copies of additional meeting materials, including the PowerPoint slides or the educational handouts, I can provide those upon request.
ALD Go-Live: GDSP will begin prospective screening of all newborns beginning 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. It will contain the exact start date and other key information in preparation for the ALD Go-Live. Please stay tuned.
The program start date will be announced once the ALD testing laboratory at the GDL is fully operational and able to begin prospective screening of up to 2,000 specimens per day. After an ALD testing kit is approved by the FDA, routine ALD screening should be incorporated into the routine NBS screening provided by the five state-contracted laboratories. A plan for screening the backlog of specimens received at our laboratory on and after February 16, 2016 has been developed and testing of the back-log is expected to begin in August 2016. Only positive results (~25-30) will be called out to clinicians. GDL plans to complete the testing of the back-logged specimens before this group of newborns turns one-year of age. Since ALD symptoms typically do not appear until age 3 years at the earliest, this delay should not negatively impact the health status of any children diagnosed in the first year of life.”