Achi news desk-
After more than four years of living in a bubble, Jakob Guziak could soon have a normal life.
In August 2019, at just 10 days old, Jakob was diagnosed with SAC SCID or severe combined immunodeficiency. It means he had no immune system and to protect Jakob, the family lived in a “bubble,” keeping interactions with others very limited. There are members of his family he still hasn’t met.
He also began going for monthly treatments where he received plasma transfusions, giving him about 25 percent of his immune system.
“We were told that without early intervention, children do not live beyond the age of two,” said Kamil Guziak, Jakob’s father. “At first, we were making sure he doesn’t die.”
At the beginning of May, the family will go 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 Andrea Fernandez, Jakob’s mother. “They will put those cells back into his body after (he receives) chemotherapy.”
They will return a month shy of her fifth birthday for the full treatment in July.
The family hope that this will completely transform Jakob’s bone marrow, meaning that the immunoglobin treatments he has received will not be needed, and that his immune system will be strengthened.
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“It’s pretty much a new life for him,” Fernandez said. “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 worries of getting sick every day are greatly reduced.
“Getting to that point where we’re thinking about school is a whole new beginning to life,” Guziak said.
The family also advocates for other parents of children with rare conditions. They have joined RareKids-CAN to share more about their experience not only with the general public but with those behind research projects.
“There are costly barriers not only for the families, such as travel costs, but to care for others back home,” said Breanne Steward of RareKids-CAN, referring to some of the things families face when they go out of the country for treatment.
“We need the involvement of families in the development of clinical trial platforms (and) research platforms to try to provide that perspective.”
Fernandaz said she knows her family is lucky to have the support and ability to go to California for treatment and she wants others to have the same opportunities, hoping more gene therapy treatments will be available in Canada .
“We’re 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 complicated journey and we hope no family has to go through the same.”
The family are now planning to do things they have never done before, such as thinking about sending Jakob to school, making new friends and meeting those family members who still haven’t the opportunity to be part of his life.
“If you focus on gratitude, I think it helps you feel like everything has purpose and meaning in it which makes things a little bit better,” Fernandez said.
& copy 2024 Global News, a division of Corus Entertainment Inc.
