The Maryland Department of Health announced last week that the the state laboratory would begin screening newborns for four inheritable diseases with an eye toward beginning treatment early.
Infants will now be screened for Pompe disease, Fabry disease, Mucopolysaccharidosis type I (MPS I) and Spinal Muscular Atrophy (SMA), bringing the total number of conditions tested for to 61, according to a news release.
This is adding functionality to a test that is already conducted routinely at hospitals around the state, according to Dr. Jessica Komlos, a pediatric hospitalist at Carroll Hospital.
“After the babies are 24 hours old, they get a blood sample that is sent on a card to the state lab — with a parent’s consent,” she said. “Not a lot of blood has to drawn, it’s a very tiny amount for a potential large benefit.”
The newborn screening program was already screening for some disorders that people might be more familiar with, according to Komlos.
“I think one of the ones people know the most about is sickle cell disease. Sickle cell disease, if caught early can be managed more thoroughly,” she said. “Cystic fibrosis is another one that is really important and the reason for that is early intervention decreases the complications, especially respiratory, lung complications, which eventually ends up being the reason why their life expectancy can be lower.”
All of the illnesses are screened for because there are treatments available, according to Komlos.
“I wouldn’t say cure, because I don’t believe there is necessarily a cure for any of these conditions, but there are treatments that can help,” she said. “That’s why these new conditions were added on.”
Spinal muscular atrophy, Komlos said, is a disease of the nervous system that leads to eventual weakening of the muscles, including the respiratory muscles.
“Eventually kids and adults with spinal muscular atrophy are wheelchair bound,” she said. “But starting early interventions with physical therapy can help with quality of life of these kids.”
Pompe disease is a storage disorder, Komlos said. Those with the disease lack an enzyme necessary to help break down sugar stored in the heart, liver and muscles as glycogen, eventually leading to cell and tissue damage.
“There is actually an enzyme replacement therapy now for Pompe disease,” she said. “It’s not a cure necessarily but it certainly helps decrease the damage done by the stored glycogen.”
Fabry disease and Mucopolysaccharidosis type I are similar, according to Komlos, with the body lacking enzymes to break down a fatty substance in Fabry, and a complex sugar in Mucopolysaccharidosis type I, leading to accumulations and subsequent problems.
Adding tests for these diseases to the Maryland newborn screening test could improve both life expectancy and quality of life for infants born with these disorders, according to Komlos.
“This is something that is offered to all babies born in the state of Maryland that is easily done without a lot of pain or discomfort to the infant,” she said.