Dr. Pan says Assembly Bill 1559 can save a lifetime of debilitating problems for a child by properly diagnosing and treating ALD before its symptoms appear.
Legislation introduced by California Assembly member Richard Pan would expand the scope of genetic testing already conducted by California’s Genetic Disease Screening Program (GDSP). Assembly bill 1559, which was introduced in January and amended May 23, would add Adrenoleukodystrophy, or ALD, to the list of genetic disorders all California infants are screened for when they’re born.
Existing law requires the State Department of Public Health to establish a program for the development, provision, and evaluation of genetic disease testing. GDSP currently administers the Newborn Screening Program and the Prenatal Screening Program. These programs screen for genetic disorders that are, for the most part, preventable or remediable by early intervention. The programs also provide clinical oversight for the follow-up services, which include genetic counseling, confirmatory testing, ultrasound and diagnostic procedures. GDSP provides nearly 1 million genetic screens each year and is the largest genetic screening program in the world.
All states in the nation and the District of Columbia have established newborn screening programs, but California’s program goes back to 1966, when state law required that treating physicians ensure all newborns were tested for phenylketonuria (PKU). As medical advancements were made, it became possible to increase the number of disorders screened.
In 2005, GDSP began working with Deloitte to implement technology to expand and improve genetic screening in the state. The Screening Information System (SIS) helps the state to manage test results and comply with federal reporting requirements and improves communication between the many professionals involved in genetic screening, diagnosis and treatment. The award-winning system continues to aid California in its genetic screening programs today and now allows for electronic exchange of newborn test results with hospitals and providers, enabling a more efficient, accurate and less costly mechanism for transmitting results.
Today, GDSP screens over 566,000 newborns annually, approximately 99.5 percent of the births in California. Early identification and initiation of ongoing treatment of disorders identified through newborn screening can prevent severe mental retardation, delayed body growth, damage to major organs, and/or death. The program emphasis is on serving all populations of pregnant women and newborns, regardless of income or ethnicity, so that access to care is equal for all participating. The screening fee is covered by insurance companies, as statutorily required.
ALD is one of a group of genetic disorders that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. People with ALD accumulate high levels of saturated, very long chain fatty acids in the brain and adrenal cortex. Neurological symptoms can begin either in childhood or in adulthood. The childhood cerebral form is the most severe, with onset between ages 4 and 10. The most common symptoms are behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Prognosis for patients with childhood ALD are generally poor due to progressive neurological deterioration. Death usually occurs within 1 to 10 years after the onset of symptoms.
When discovered early, current treatment consists of steroids, a diet low in certain fatty acids, and the use of “Lorenzo’s Oil.”