|Posted:||August 9, 2013 03:37 PM|
|From:||Representative Angel Cruz|
|To:||All House members|
|Subject:||Newborn Screening in PA (Hannah’s Law)|
|In the near future, I plan to introduce legislation that would add Krabbe (pronounced Crab A) and five other Lysosomal Storage Disorders (LSDs) to the list of genetic diseases that hospitals must screen for in Pennsylvania. The other five LSDs would include: Fabry, Pompe, Niemann-Pick, Gaucher and Hurler Syndrome.
With early detection and treatment, the long-term effects of these diseases will be less detrimental to children and families. These disorders can be cost-effectively screened together and must be diagnosed early to save children's lives, therefore it is critical to have all infants screened for LSDs at birth. These six LSDs may be screened for along with the diseases that are currently screened for in Pennsylvania when a child is born. All may be screened from the same heel prick that an infant already receives.
Infants born with Krabbe appear normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, excessive crying, fevers, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. A recent study by the Mayo Clinic established that the early treatment of Krabbe disease may delay its onset when treatment is given before symptoms begin. Treatment has been successful when it began before overt symptoms appeared and when the disease had been diagnosed early.
Many of you may have heard the heartbreaking story of Hannah Pizzullo, a 6–month-old baby residing in Levittown, Pennsylvania, who was recently diagnosed with Krabbe. Hannah obtains nourishment through a feeding tube. She can no longer suck and swallow the way a healthy 6-month-old should. Hannah is in the second stage of the disease. In stage three children lose mental and motor function, become deaf and blind, and are unable to move or speak. Advocates along with Hannah’s parents are disappointed that Krabbe is still not a part of newborn screening in Pennsylvania. Her mother expressed the importance of getting the word out and having newborns screened right away. She stated that Hannah’s outcome could have been different had she been screened early. These diseases may be controlled when detected early, but can be devastating if they are not screened for in time.
I spoke with members of staff at Hunter’s Hope Foundation—an organization established in 1997 by NFL Hall of Famer Jim Kelly and his wife Jill, after their infant son, Hunter was diagnosed with Krabbe disease which resulted in his unfortunate passing in 2005. This organization and the story of Hannah Pizzullo inspired me to create Hannah’s Law and add Krabbe and five other LSDs to Pennsylvania’s current newborn screening list.
I hope you will join me in honoring Hannah Pizzullo and assist me in providing our children with a better chance at a healthy life by co-sponsoring this legislation, Hannah’s Law. Thank you in advance for your consideration.
If you have any questions or concerns, please contact my Harrisburg office at 717-705-1925.
Introduced as HB1654