Pediatric Grand Rounds highlights importance of screening newborns

Two pediatric faculty members have noticed the impact of adding Severe Combined Immunodeficiency (SCID) and sickle cell disease to the provincial newborn screening program.

Aisha Bruce and Sneha Suresh  (Division of Immunology, Hematology, Oncology, Palliative and Environmental Health) are raising awareness with Edmonton pediatricians that screening for these diseases is available. The two faculty members from the Department of Pediatrics received the Pediatric Grand Rounds Award in 2020 for their presentation about this issue. “We were the third jurisdiction to introduce SCID screening in Canada. It's not widespread among all provinces, and we were one of the earlier provinces to adopt it,” says Suresh.

Both Suresh and Bruce have seen the number of SCID and sickle cell disease cases rise in Alberta. SCID is a group of rare disorders caused by mutations in different genes involved in the development and function of infection-fighting immune cells. Newborn babies haven’t been exposed to different infectious agents, so SCID may not immediately present itself. The cure at the moment is a bone marrow transplant. An earlier diagnosis will mean better outcomes for the child, says Suresh.

Sickle cell disease is an inherited red blood cell disorder when not enough red blood cells carry oxygen throughout the body. “When children are born with sickle cell disease, they look perfectly normal, beautiful babies. What happens within the first couple months of life is their organs stop working. If we immunize and give them a small tiny dose of penicillin prophylaxis from two months of age and onwards, we can decrease the mortality,” says Bruce.

They link the rise of sickle cell disease to immigration from countries with a malaria-endemic. SCID doesn’t have an ethnic predisposition. Bruce and Suresh are seeing more cases of both diseases because of the number of young families increasing in the province. “When I started, I had 15 patients with sickle cell disease. Now I have over 100. It used to be a rare disease in Canada. It's more common in places like Toronto where immigration is huge,” says Bruce.

She began focusing on this disease early in her career because she found it fascinating. “It's meaningful to me, but it comes down to the families and the children. They make it worthwhile overall and they're incredible resilient people,” she adds.

Suresh completed her training in clinical immunology in Ontario when the province implemented newborn screening. She brought this knowledge when she returned to Edmonton to practice with families with SCID. “What I loved about working with those families, especially when you have a positive screen, is you are walking on this journey with them. You take them through so many phases from the diagnosis and the initial shock to the recovery process. It's rewarding work,” she says.

As clinicians, Bruce and Suresh love driving research questions to dig deeper into issues they encounter while treating patients. They also witness the results that research brings to these families. “You can offer hope to the family. With sickle cell disease, many Nigerian families have seen friends and family members die of the disorder early in life, and they feel a bit hopeless. I have much hope that we will find novel ways to cure this disorder and to treat different aspects of the disorder that might cause the child pain or organ dysfunction. You can communicate that back to the family, and it’s why I love that aspect of research,” says Bruce.

They felt it was important to educate Pediatric Grand Rounds attendees about the significance of the newborn screening program and the addition of SCID and sickle cell disease to the program. “The Grand Rounds audience is wide reaching. When you're doing a provincial systemic change, it's the perfect platform to disseminate that knowledge very quickly and widespread,” says Suresh.

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