November 29, 2022
Geography is often destiny, and Grant Breitbarth is living proof. If he lived in one of the 18 states that don’t include Pompe disease in newborn screening, damage from the disease would already be apparent.
“Symptoms of Pompe were easily misdiagnosed before the newborn screening,” says Riley Pediatric Cardiologist John J. Parent, M.D. “Since 2006, we’ve been able to replace a critical enzyme that is missing in Pompe patients. And with newborn screening, we can start therapy sooner and stave off symptoms.”
Prior to enzyme replacement therapy, infantile onset Pompe was universally fatal.
Grant receives weekly treatments at Riley Children’s IU Health North. “He is really fast!” says his mother, Alison Breitbarth, when describing how Grant gets around with his IV pole during his 5-hour infusion. “Time is muscle. The sooner the kids with Pompe get treatment, the less muscle damage they have.”
The Riley team provides seamless care coordination, plus advocacy. “When it came to deciding an appropriate dose, his genetics specialist, Dr. Molly McPheron, was familiar with current Pompe research and knew that kids on a higher dose do better,” says Alison. Neurological and cardiac tests continue to show no impact from the disease.
Advocacy pours over to the financial side too. “We have medical facts on our side,” says Katie Sapp, a genetic counselor with Riley Children’s Health. “We are persuasive advocates when talking to insurance companies! We recognize that early diagnosis and treatment makes a profound impact on these babies.”
“Babies shouldn’t have to get lucky to be screened for Pompe,” says Alison, who is passionate about getting Pompe added to newborn screening tests in all 50 states. Today, Grant is an energetic, healthy little boy. He runs around with his 4-year-old brother and keeps Alison and dad Nolan on their toes.
“He is going to have a normal life! He’ll do well,” says Counselor Sapp. “With newborn screening for Pompe, we are so excited because we’ve seen what life looks like for these kids. Today, it’s exponentially better.”