From panic over results of newborn screening to gratitude for the early diagnosis

Brittany Morris was thrilled to welcome her second child into the world. In her eyes, James was perfect.

But newborn screening, which tests for certain disorders that aren’t obvious at birth, would soon give her and her doctors important information that would help give him a healthier future. The screening involved drawing blood from the baby’s heel and sending it to the South Carolina Department of Health and Environmental Control’s Public Health Lab, then letting the parents know about the results.

“Something came back abnormal. So they told us to do the newborn screen again at the doctor’s office. And we did it again, and it came back abnormal a second time. That’s when they told me he has Pompe disease,” Morris said.

 

Morris had never heard of it. Her reaction? “Panic, I guess, immediately. Yeah, because they tell you not to Google what Pompe disease is because the information is outdated.”

Pompe disease is rare, affecting an estimated 1 in every 40,000 births. It’s hereditary and can be fatal, depending on its severity and progression. It’s important to catch it early, like James’ doctors did.

The disease is caused by an abnormality in a gene called GAA, which leads to an inability for the alpha-glucosidase enzyme to break down a complex sugar, called glycogen, in the body. As glycogen builds up, primarily in the heart and muscles, it causes damage to the way muscles work.

Pompe disease was added to the conditions South Carolina screens babies for in February of 2021. James was born three months later. Without that crucial test, Morris wouldn’t have known he needed treatment ASAP.

 

“I probably would’ve noticed delayed motor skills, but then that still would have left doctors saying, ‘You know, every baby’s different.’ Or, ‘Some babies do things later and maybe it’s not anything.’ And I don’t know that any doctor would’ve automatically thought, ‘Oh, it’s Pompe disease.’ There’s some doctors that never knew that existed.”

Morris is sharing James’ story during Newborn Screening Awareness Month, a time that highlights the importance of catching harmful conditions early so they can be treated without delay to get the best outcome possible for the child.

For James, that meant seeing the only doctor in South Carolina who is currently treating Pompe disease in babies: Neena Champaigne, M.D., chief of the MUSC Genetics and Genomics Integrated Centers of Clinical Excellence.

“James actually has what we call late-onset Pompe disease because he didn’t develop cardiac symptoms. In the classic infantile-onset, these babies usually present at about 4 or 5 months with cardiac failure and significant muscle weakness, and without treatment, these babies used to die in the first or second year of life,” Champaigne said.

“Catching it early, we’re able to put them on enzyme replacement therapy, giving them back the enzyme that their body isn’t able to produce. And it removes the storage material, which is glycogen, from the muscles and the heart.”

James’s mother drives them from Johnsonville, which is near Florence, to North Charleston every other week so he can get that therapy at the MUSC Children’s Health R. Keith Summey Medical Pavilion. The drive takes about two hours each way, and the therapy, which involves enzyme infusion, takes four hours. The Morrises are in the process of getting their home set up so they can do the enzyme therapy there.

James also sees a team of specialists at MUSC Children’s Health. He has genetic counselors, a metabolic dietitian, a neurologist, a cardiologist, and he’s about to start seeing an audiologist.

“I would say it’s taken a year to get into the swing of things. I feel like it has gotten easier now,” his mom said.

 

James will have to be closely monitored and keep getting the enzyme treatment for the foreseeable future, Champaigne said. “But because treatment is so new, we don’t know what the landscape is going to be for the future because we’ve altered the typical course of this condition.”

James’ mother hopes the course of James’ disease, picked up by newborn screening, will allow him to have a full life. “My hope is that one day maybe there’ll be a cure and he can live his life without having infusions every other week so that he can be just like every other person. I think other than that, other than infusions, he’ll just take longer to do things like walking. But I think he’ll have a life, even if they don’t cure it.”

The SCDHEC Newborn Screening Program currently tests for 53 disorders. Beginning the week of Sept. 26, spinal muscular atrophy screening will be added to the panel. There are plans to add three more conditions in 2023.