Newborn Screening saves lives

Newborn Screening saves lives

When Jessica Koppeser was born, she seemed like a healthy baby. She lost some weight during her hospital stay, but that’s fairly common. After she was discharged, her parents, Julie and Jeff took her to her first well-baby appointment with her family doctor and learned she had lost more weight. Still, the amount wasn’t concerning, so the family went home with instructions to call if anything changed.

On the drive back home, the family received multiple phone calls—both from their family doctor and their team at McMaster Children’s Hospital (MCH) where Jessica was born—telling them to get to the hospital as soon as possible. Thanks to standardized screening tests performed immediately after Jessica was born, they had identified the cause of her weight loss, and it needed to be treated immediately.

“Without that screening, it likely wouldn’t have been caught until she was quite sick,” recalls Julie, remembering how difficult it was to get that news.

Jessica has Tyrosinemia Type 1, a rare genetic condition. Her body doesn’t produce the enzyme needed to break down protein, so harmful by-products quickly build up in her system. Untreated, it can lead to liver failure.

“We feel so lucky. The marker for Jessica’s condition was added to screening just months before she was born,” Julie adds. “We’re so thankful.”

MCH offers screening to infants as part of Newborn Screening Ontario’s program, which aims to identify genetic conditions so they can be treated as early as possible. MCH has been identified by Newborn Screening Ontario as a high performance site in the province, and offers guidance to other hospitals looking to improve their Newborn Screening programs.

“We’re the safety net.”

“We’ve developed some very effective tools to make sure every infant is offered Newborn Screening, and to follow up with those needing attention,” says Wendy Seidlitz, a patient safety specialist in Data Management at MCH. “We’re proud to be considered a provincial leader.”

To enhance the screening program at MCH, Seidlitz and her colleagues have developed electronic tools to identify which patients need follow up, created an online course for clinicians to learn about Newborn Screening, and developed standardized fax templates to communicate with health care partners.

“We’re the safety net. Our clinical teams can focus on taking care of a baby’s immediate needs and know that we are on top of this screening,” Seidlitz notes. “For example when babies born at other hospitals are transferred to us for specialized care. When a baby is born with something very wrong, offering screening isn’t always top priority before they’re transferred, so our team has a process to check on that when they get here.”

Promptly following up with families who receive a positive or uncertain result is equally important.

“Some of these families are receiving results about potentially life-changing conditions.”

“When a result is abnormal, we want to connect with the family as soon as possible to talk about next steps,” says Christina Paradiso, a genetic counsellor at MCH. “Sometimes the baby will require further testing to rule out a condition, other times, we need to start treatment as soon as possible.”

In some cases, including Jessica’s, identifying a genetic condition through Newborn Screening can significantly improve a child’s outcome or even save their life.

“Following a careful process to contact families and other care providers for repeat screening and follow-up counselling is very important,” Paradiso says. “We’re able to make sure results are accurate and help families understand what those results mean as quickly as possible. Some of these families are receiving results about potentially life-changing conditions.”

For Jessica, that meant ensuring she didn’t consume more protein than her body could process. The bubbly now seven-year old has to follow a strict diet and is extra cautious around germs, but her life is otherwise normal.

“When we look back on cases like Jessica’s, it reminds us of how important this work is,” Paradiso says. “We’re always looking for ways to improve our program, and we’re proud of how successful it is.”