From State Rep. Angel Cruz – With unanimous approval, legislation authored by state Rep. Angel Cruz, D-Phila., Democratic chairman of the House Human Services Committee, which adds Krabbe disease and five other lysosomal storage disorders to the list of diseases for which Pennsylvania hospitals must screen newborns, passed the state House today.
“I’m incredibly thankful to my fellow legislators who have shown such great support for this bill,” Cruz said. “The screenings this legislation mandates will greatly improve the quality of life for children and families impacted by these diseases and give newborns a fair chance at a healthy life.”
Along with H.B. 1654, House Resolution 484 also unanimously passed the House. H.R. 484, sponsored by state Rep. Tina Davis, D-Bucks, designates Jan. 15, 2014 as Krabbe Disease Awareness Day in Pennsylvania.
“Early detection is key to these diseases and can often mean the difference between severe disability and possibly death or the chance to live a healthy life,” Cruz said. “By raising awareness and mandating these tests, we’re able to greatly advance Pennsylvania’s newborn screening process and hopefully keep families from having to go through the pain and heartbreak that is often associated with lysosomal storage disorders.”
Lysosomal storage disorders are inherited metabolism disorders caused by a deficiency of specific enzymes required for the breakdown of nutrients. Infants born with these disorders appear normal at birth and symptoms do not usually show until the child is between three and six months old.
H.B. 1654 now moves on to the Senate for action.
Jaylah’s story
It is a family’s journey FOX43 has followed for months. Jaylah is a beautiful young girl who is fighting Krabbe disease. Jaylah’s family shared her story with FOX43 with hopes of expanding newborn testing to include Krabbe disease. Shortly after their story aired State Representative Cruz introduced the bill to mandate that testing.
“I think its great. I think it’s really great and I hope it moves through really fast, and I hope it becomes our law here in Pa,” said Jaylah’s grandmother Angel Custer. “You always hate the could have beens. Especially when it comes to life. It kind of makes you mad. It could have been prevented with a simple test, instead of her being sentenced to death. That is she was given. She was given thirteen months to two years,” said Custer.
Jaylah will never be able to walk or talk. She cannot eat on her own or swallow. She is given food and medicine through a tube.”The disease has left Jaylah unable to walk, talk, crawl, we’ve lost her smile, we’ve lost her laugh at three and a half, four months old. That’s when the disease hit her,” said Custer.
Jaylah regularly has to undergo suction treatments because she cannot swallow.”Her suctioning can be anywhere depending on the day, every five minutes, to every minute she needs a suction,” said Custer.
“She gets a Nebulizer treatment, she gets a vest treatment, she gets cough assist, which helps bring all that stuff up that’s down in there. She needs a lot of moving around,” said Jaylah’s grandfather Anthony Schaffer.
Jaylah’s grandparents work opposite shifts to provide around the clock care for her.