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House of Representatives
Session of 2015 - 2016 Regular Session


Posted: August 19, 2015 09:25 AM
From: Representative Ryan A. Bizzarro
To: All House members
Subject: Adrenoleukodystrophy (ALD) Newborn Screening
In the near future I plan to introduce legislation that would add Adrenoleukodystrophy (ALD), a Lysosomal Storage Disorder, to the list of genetic diseases that hospitals must screen newborns for in Pennsylvania. This is the same disease that was publicized in the 1992 movie, “Lorenzo’s Oil.” Last session we added Krabbe and 5 other Lysosomal Storage Disorders to the list of diseases newborns are screened for, but did not include ALD at that time. ALD can be detected through the same heel pinprick already used under the Newborn Child Testing Act.

ALD is an inherited metabolic disorder, which affects the nervous system and is fatal if not treated before symptoms appear. In those affected, the mutated gene on the X chromosome fails to make an enzyme needed to break down substances called very long chain fatty acids. Without the enzyme, the fatty acids build up in tissues and plasma throughout the body. This leads to issues with the adrenal gland and in 35% of the cases, the disease causes brain damage early in life. In the other 65% of cases, the brain damage doesn’t become apparent until adulthood.

ALD can be treated with a bone marrow transplant, but that treatment only works if children are diagnosed and treated before they are symptomatic. If ALD goes untreated, those affected lose all voluntary muscle function, vision, and hearing, and eventually die. The cost of medical bills for a child who is not diagnosed and treated early is over $4 million.

Approximately one in 17,000 boys is affected by ALD. Females are not affected, but are carriers of the disease. New York added ALD to its list of genetic diseases it screens newborns for in 2013 and, since January 1, 2014, 33 newborns have been diagnosed with ALD. Those 33 babies now have a chance to be treated and beat ALD.

I hope you will join me in cosponsoring this very important piece of legislation and provide our children with a better chance of living a long and healthy life.

Introduced as HB2012