On November 25, 2020, the day before Thanksgiving in the United States, the Governor of Pennsylvania, Governor Wolf, signed SB983 into law. SB983 not only adds Krabbe Disease to the Newborn Screening Program, but it improves the Newborn Screening Program in Pennsylvania. This bill allows the mandatory and supplemental panels to merge, so there is only one panel – mandatory. Hospitals no longer can choose what diseases to screen for and every baby will be screened equally. Therefore, more diseases will be screened for via the Newborn Screening Program at Pennsylvania. With being diagnosed at birth, babies with Krabbe can receive a stem cell transplant. It isn’t a cure, but a 90% success rate and extends their life.
Krabbe Disease is a neurological disease that affects the white matter of the brain. Most children show symptoms within the first few months of life. There are multiple forms of Krabbe Disease, but early infantile is the most common and typically the most severe. Most are diagnosed too late for treatment. Children with Krabbe lose the ability to swallow, coo/talk, hold their head up, do voluntary movements, grasp objects, cry, crawl (if diagnosed later on where they develop that skill!), and walk (in later forms!). They often lose the ability to see, regulate body temperature, and hear. Most have seizures. Krabbe Disease causes nerve pain, so they have muscle spasms that is severely painful. They have to be put on medications to help with the pain and tightness. It causes stiffness, excessive irritability and feeding difficulties. It is often misdiagnosed as colic, acid reflux, food/milk allergy, and Cerebral Palsy. They lose milestones.
Pennsylvania will be the 9th state to screen for Krabbe Disease thanks to Victoria “Tori” Brackbill’s mom, Lesa Brackbill (Tori passed away on March 27, 2016 at 19 months and 27 days old) advocacy as well as Hannah Ginion’s mom, Vicki Pizzullo, (Hannah passed away on December 28, 2014 at 23 months old; 18 days before her 2nd birthday) who advocated for Hannah’s Law that passed in October 2014. SB983 now known as Act 133 of 2020 will be implemented on May 24, 2021, 6 1/2 years after Hannah’s Law passed. Thank you to Lesa for continuing Vicki’s advocacy for the past 4 years! Thank you to Tori and Hannah for inspiring so many!