RICHMOND, Va. — Starting this year, two new genetic disorders will be screened in testing done on Virginia’s newborns.
When babies are born, their heels are pricked and a series of blood samples are taken to the Division of Consolidated Laboratory Services, or DCLS, to be tested. The program has been in the Commonwealth for over 50 years.
“This program is continuing to evolve,” DCLS Director Dr. Denise Toney said. “There are a lot of rare disorders out there.”
Because of a bill passed in the General Assembly in 2018, Pompe Disease and MPS-1 were added to the screening list. Pompe disease, which can cause muscle weakness and heart defects, can start within a few months after birth. MPS-1 can lead to organ damage.
More changes are happening in the lab as well. As of Jan. 1, 2019, the lab will be staffed 7-days a week, including holidays, in order to get results back to families quicker. Usually, it takes about a day or two for them to hear back about the results.
“The ability to perform testing 7-days a week allows us to get children that do have these disorders into medical treatment and into follow-ups as quickly as possible,” Toney said.
Those follow-ups are initially coordinated with the Virginia Department of Health.
Newborn screenings aren’t always on everyone’s radar, Jana Monaco says.
“We had two children with the same condition with two very drastically different outcomes.”
Monaco’s son, Stephen, was a little ball of energy at 3-years-old. A picture of him from Memorial Day weekend in 2000 shows Stephen mixing batter for his grandmother’s birthday cake.
“We’re just talking a matter of 24 – 36 hours that life changed abruptly,” she said.
Jana recalls Stephen was nauseous and kept saying he “was feeling sick.” The next morning, Jana found him unresponsive in his bed.
“It’s very hard when you feel like you did everything right to ensure that your child was healthy and safe,” Monaco said.
After being rushed to the hospital, the family learned that Stephen suffered brain damage and became severely disabled. He was diagnosed with Isovaleric Acidemia, a rare genetic metabolic disorder. It causes your body to have an inability to break down a particular amino acid. If your body has too much of this acid it can go into a crisis and cause a series of other problems, like what happened to Stephen.
Isovaleric Acidemia is manageable with a proper diet and medications if caught early on. Stephen wasn’t tested for it when he was born, but now the test is included in newborn screenings at DCLS.
A few months after Stephen returned from the hospital, Monaco realized she was pregnant with her fourth child, Caroline.
“I couldn’t wait nine months to find out, so we did an utero test and found out that she had the same disorder,” she explained.
Caroline has been able to live a healthy life without many difficulties.
Jana Monaco is not only Stephen’s full-time caregiver but also an advocate with the National Organization for Rare Diseases (NORD). She wants to make sure other families are informed.
“The suffering that Stephen has experienced and the tragedy – that it didn’t go in vain. That there was some sort of good that came out of it,” Monaco said.