How Sebastian is helping deepen CF research at SickKids

When they were six weeks old, Sebastian and his twin brother, Xavier, caught a respiratory illness. While Xavier quickly bounced back, Sebastian did not. Bouts of respiratory infection were treated first as viral, then as asthma, but he kept getting sick. At seven months old, Sebastian was rushed to The Hospital for Sick Children (SickKids) with dangerously low oxygen levels. He rallied and was sent home without a certain diagnosis. Just two days later, he was readmitted.

This pattern characterized Sebastian’s first year — recurrent airway infections, frequent medical appointments, and frantic trips to the emergency department. For his parents, Vicky and Richard, it was an anxious time.

Vicky noticed that Sebastian’s skin tasted salty. Searching online, she came across the expression, “salt on the brow, not long for this earth.” She found links to cystic fibrosis (CF), a genetic disease that affects the lungs and digestive system. The faulty gene doesn’t allow water and salt to move in cells as they should, leading to sticky mucus in the lungs and digestive tract, and salt on the skin. (A standard diagnostic tool for CF is a sweat test, which measures salt levels in sweat.)

During this period of uncertainty, Vicky and Richard asked various doctors if their son could have CF.

They were told that he likely didn’t because he’s “not white”— his parents are Canadian-born Latinos from Ecuador, with mixed Spanish and Indigenous heritage. Though CF affects all races and ethnicities, there’s still a common misconception among health-care providers that it is a predominantly white disease.

Worldwide, more than 2,000 CF genetic variants have been discovered, though only about 400 of these are currently known to cause the disease. Ontario newborn screening tests for a subset of the most common CF variants in Canada. Sebastian had tested negative for all of them.

“Like most parents,” says Vicky, “we will try to move the earth, moon, and stars to help our child.” Despite the negative screening and inconclusive diagnoses, Sebastian’s parents insisted on more testing. Repeat sweat tests and more extensive genetic testing at SickKids finally confirmed CF. Sebastian did indeed have two CF variants — both rare in Canada, and one present among Ecuadorians.

After months of not knowing, the family had a precise diagnosis, a treatment plan and support from the SickKids CF team. Their focus turned to daily treatments to keep Sebastian active and healthy, and contributing to CF research.

Today, Sebastian is a rambunctious five-year-old who loves going on family hikes and other outdoor adventures. Keeping him healthy takes about three hours of daily breathing exercises, chest percussion, using a puffer, and inhaling saline with a nebulizer. When he has a virus or infection, the therapy doubles.

On the research front, Sebastian joined Cystic Fibrosis Individualized Therapies (CFIT), a research project started by SickKids and Cystic Fibrosis Canada in 2015. CFIT builds on the groundbreaking discovery of the CF gene in 1989 by teams at SickKids and the University of Michigan — research that has enabled new drug and therapy developments, which have helped drastically extend lifespans for people with CF.

A new generation of precision therapy has been life-changing for people with one of the most common disease-causing variants of CF. But for Sebastian and others with rare variants, the search continues for targeted treatments — or to see if existing precision therapies might have an effect. CFIT scientists are testing Sebastian’s cells to determine if they respond to current CF drugs, evidence that could help broaden drug access to Sebastian and other people with rare variants.

Sebastian is helping expand knowledge of CF’s genetic, racial, and ethnic diversity in Canada while supporting research on current and new therapies. Without diversity in research — gender, age, race, ethnicity, genetic, socioeconomic — knowledge gaps can lead to deadly health-care inequities. That’s why projects like CFIT matter and why participation like Sebastian’s is essential.

Torstar, the Star’s parent company, is in a fundraising and educational partnership with The Hospital for Sick Children to help raise $1.5 billion for new facilities. This content was produced by SickKids as part of that partnership.