Adrenoleukodystrophy, or ALD, strikes one in 17,000 people. (In America, that’s one baby every 36 hours.) ALD is an x-linked metabolic disorder, therefore effecting boys and men most severely, and characterized by progressive neurologic deterioration due to demyelination of cerebral white matter. Brain function declines as the protective myelin sheath is gradually stripped from the brain’s nerves. Without that sheath, the neurons cannot conduct action potentials. In other words, the neurons cannot stop telling the muscles and other elements of the central nervous system what to do.
This sequence of events appears to be related to an abnormal accumulation of saturated very-long-chain fatty acids (VLCFA) in the serum and tissues of the central nervous system, which sets off an abnormal immune response that leads to demyelination. It is unclear exactly how this chain of events works, but scientists do know that it has its roots in genetics.
ALD is caused by a genetic abnormality, commonly referred to as a “genetic mutation”, affecting the X chromosome, otherwise known as an “x-linked” condition. Everyone has two sex chromosomes: women have two X chromosomes and men have an X and a Y chromosome. If a woman inherits the abnormal X chromosome, she still has a normal, second X chromosome to help balance out the affects of the mutation. Boys and men do not have a second X chromosome, so if they inherit this genetic abnormality, they will most likely get the disease.
ALD takes several forms, which can vary widely in their severity and progression. They include:
Childhood Cerebral Demyelinating ALD. This is the most common form of ALD, representing about 45% of all ALD cases. It is characterized by an inflammatory process that destroys the myelin, causing relentless progressive deterioration to a vegetative state or death, usually within five years.
There is no cure for ALD. But there are successful treatments
Aidan’s Law (H.R. 5453) is a House of Representatives bill which will require (and fund) ALD screening in all 50 U.S. states. The bills were introduced to the U.S. congress in April 2018 by Congresswoman Yvette Clarke and Congressman Lee Zeldin, as a bipartisan bill. It is the updated bill from 2016 Senate Bill S. 2641 and House Bill H.R. 4692 U.S. Senator Charles Schumer, D-NY, and U.S. Representative Yvette Clarke, D-NY, are sponsors of the Senate and House bills, respectively. Co-sponsors of the Senate bill include: Senator Kirsten Gillibrand, D-NY; Senator Michael Bennet, D-Colo; Senator Barbara Mikulski, D-Maryland and Senator Richard Blumenthal, D-CT. Representative Ellot Engel, D-NY and Rep. Antonio Cárdenas, D-CA are co-sponsors of the House bill.
The bills, when passed by each chamber of congress, will be joined as a reconciled bill – and sent to the President of the United States for signing into law.
Currently, newborn disease and disorder screening is a state-by-state matter, legally. A state version of Aidan's Law was passed in New York in 2013; to date 10 States have implemented ALD Newborn Screening: New York, Connecticut, California, Pennsylvania, Minnesota, Washington, Tennessee, Florida, Nebraska and Kentucky are the only U.S. states screening newborns for ALD. The federal Aidan's Law, when passed, will override this state-by-state patchwork of ALD screening policies. All 400 million annual American newborns will, by U.S. law, be tested for ALD.
The fight to pass the national Aidan’s Law is a movement. Moms, dads, children, grandparents, teachers, nurses, motorcycle clubs, artists, musicians, politicians and celebrities have voiced their support and donated funds to the cause. At the heart of the movement are Ally organizations that work tirelessly, along with the Aidan Jack Seeger Foundation, for national newborn screening of ALD. They include: