House Co-Sponsorship Memoranda

NEW!

Subscribe to receive notifications of new Co-Sponsorship Memos circulated

By Member | By Date | Keyword Search

House of Representatives
Session of 2019 - 2020 Regular Session

MEMORANDUM

Posted:	September 3, 2020 01:15 PM
From:	Representative Angel Cruz
To:	All House members
Subject:	Krabbe Disease Awareness Month

In one out of 100,000 infants, a mutation in the GALC gene causes an incurable, always fatal disorder known as infantile Krabbe disease or globoid cell leukodystrophy. Krabbe disease is among a group of conditions known as lysosomal storage diseases. The mutated GALC causes lipids to build up in the body and leads to the deterioration of the brain and nerves. As a result, children with Krabbe disease experience debilitating neurological symptoms affecting their ability to walk, talk and swallow, as well as hearing and vision loss. Most children with the condition do not live until two years of age. The majority of Krabbe cases are diagnosed when the child is already symptomatic, and palliative and supportive care is the only treatment available. However, newborn screening for the disease allows diagnosis and monitoring early in life. Without screening, diagnosing can take five months or longer after symptoms begin leaving fewer care options for families. We must continue to broaden public awareness of genetic disorders and the importance of early detection through newborn screening, especially to those who have recently had or are planning to have children. Therefore, I will be introducing a resolution to designate September 2020 as “Krabbe Disease Awareness Month” in Pennsylvania.

---