After more than four years of living in a bubble, Jakob Guziak could soon have a normal life.
In August 2019, when he was just 10 days old, Jakob was diagnosed with ACA SCID or severe combined immunodeficiency. It means he didn’t have an immune system and in order to protect Jakob, the family lived in a “bubble,” keeping interactions with others extremely limited. There are members of his family he still hasn’t met.
He also started going for monthly treatments where he received plasma transfusions, giving him about 25 per cent of an immune system.
“We were told that without early intervention, kids don’t live past the age of two,” said Kamil Guziak, Jakob’s dad. “At the beginning, we were just making sure he doesn’t die.”
In early May, the family will be heading to UCLA in California to take part in a stem cell treatment trial.
“They will take Jakob’s cells (and) they will transform those cells with a virus,” said Jakob’s mom, Andrea Fernandez. “They will put those cells back into his body after (he receives) chemotherapy.”
They will return a month shy of his fifth birthday for the full treatment in July.
The family hopes that that will completely transform Jakob’s bone marrow, meaning he won’t need the immunoglobin treatments he’s received, and his immune system will be strengthened.
“It’s pretty much a new life for him,” said Fernandez. “It gives us light at the end of the tunnel.”
For the first time, the family is thinking about a future for Jakob. He will always be considered a transplant patient and will have to deal with some life-long complications of his disease, but the constant concerns about picking up every day illnesses are significantly decreased.
“To actually get to that point where we’re thinking of school is a whole new start to life,” said Guziak.
The family is also advocating for other parents of children with rare conditions. They’ve teamed up with RareKids-CAN to share more about their experience not just with the general public but with those behind research projects.
“There’s costly barriers not only to the families, like travel costs, but of taking care of others back home,” said Breanne Steward from RareKids-CAN, referencing some of the things families face when they are heading out of the country for treatment.
“We need families’ involvement in the development of clinical trial platforms (and) research platforms to try provide that perspective.”
Fernandaz said she knows her family is fortunate to have the support and the ability to head to California for treatment and she wants others to have those same opportunities, hoping more gene therapy treatments can be made available in Canada.
“We are probably the best example of a family that needs a life (saving) therapy that is gene therapy and it’s not available in Canada,” Fernandez said. “It’s been a very complex journey and we hope no family will have to do the same.”
The family is now planning on doing things they have never done before, like thinking about sending Jakob to school, making new friends and meeting those family members who still haven’t had the chance to be a part of his life.
“If you focus on gratitude, I think that it helps you feel like everything had a purpose and a meaning in it makes things a little bit better,” Fernandez said.
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