Vicky and Sebastian

Mom, Vicky, kisses her 5-year-old son Sebastian on the cheek at home in Toronto

JUNE 14, 2023

Sebastian’s cystic fibrosis story is different than most. Sebastian wasn’t diagnosed at birth, through newborn screening. Instead, his story is one of many missed opportunities for early diagnosis and early treatment. It’s also a story about the need for treatments for those with rarer mutations, which often impact racialized people.

When Vicky’s twins were born, the family was filled with happiness. But soon, the twins began getting sick – Vicky and her husband, Richard, noticed that one twin, Xavier, would get better while the other, Sebastian, got worse. They blamed it on germs their toddler brought home from daycare. 

But Vicky knew something wasn’t right the moment she tasted salt on her lips after kissing Sebastian. Over the next few months, as he got worse, they took him to doctor after doctor, and little Sebastian was admitted to the hospital twice for lung exacerbations.

Then, after too many visits to the doctor, an asthma specialist ordered a sweat test and a CT scan. Finally, they got the answer. At nine months old, Sebastian was diagnosed with cystic fibrosis.

Vicky and Richard had no idea they carried the CF gene. Approximately, one in 25 Canadians carry an abnormal version of the gene responsible for cystic fibrosis. When two parents who are carriers have a child, there is a 25 percent chance that the child will be born with cystic fibrosis. It turns out that one of the rare mutations Sebastian has is only found in people with Indigenous Andean ancestry – mostly Ecuadorian, like the family. The other mutation is also rare. Current newborn screening doesn’t test for mutations like these.

Sebastian doing his daily treatments at home as brother Xavier keeps him company
Sebastian doing his daily treatments at home as twin brother Xavier keeps him company

Vicky shares her story so that people realize there are still big gaps in our understanding, diagnosis and treatment of CF. There is still so much further we need to go. For now, Sebastian – aged only five – spends three hours a day doing treatments. More if he has an infection – which can also include a hospitalization.

While the drug Trikafta has brought a lot of hope for the CF community, it can be life-changing for some, there are still so many Canadians that Trikafta won’t work for, or, those like Sebastian with a rare mutation, who we don’t have enough information yet to know if it will work for. Those like Sebastian with rare mutations may need a new type of therapy to be developed. That is why our work at Cystic Fibrosis Canada is not done. 

Over the next five years, we will focus our research investments to meet the greatest needs of the CF community, including finding treatments for people who don’t benefit from current therapies. We’ll build capacity for research in Canada by investing in the brightest scientific minds, creating impact sooner than later all while listening to and prioritizing our community’s needs. 

We know that the more we understand about rare mutations, the better we will be able to detect and treat them. For family’s like Vicky’s, research into new treatment options could help Sebastian live a long and healthy life.

Sebastian’s family is working with SickKids to test how his cells respond to Trikafta and while initial results look promising, there is still more work to be done.

Research advances will drive improvements in CF treatment and care. Donate today and join a powerful community creating healthier lives for all Canadians with CF. Give Today.