An Edmonton family is dealing with another difficult diagnosis.
Since he was born, 16-month-old Jakob Guziak has been in isolation.
The toddler has Severe Combined Immunodeficiency (SCID) — also known as “bubble boy disease.”
His immune system is so weak, a cold could kill him.
“Through the windows we get to see people,” Jakob’s dad, Kamil Guziak, explained.
“We’ve only been able to work one person at a time, because somebody always has to be home with Jakob.”
Jakob relies, in part, on intravenous immunoglobulin (IVIG) transfusions once a month. It’s a medication made from plasma. That, however, is not a long-term treatment.
The family has put out a plea for stem cell donors from diverse backgrounds.
“If we can’t find one for Jakob, hopefully we can help somebody else along the way,” Guziak said.
“Right now any option that we try seems like we get hit with a roadblock.”
According to Jakob’s parents, only about three per cent of donors have mixed-race backgrounds.
“Statistics say that only half the people that are contacted follow through with the donations,” Guziak explained.
“We’re looking at very slim chances of finding somebody to fully come through and commit to this, even if we do find a donor.”
At one point, their best and only option, was a million dollar gene therapy treatment in Italy, but the family said it was put on hold because one patient developed leukemia.
“Our last, feasible option is using mine or mom’s stem cells, which is only a half match, which isn’t very good,” Guziak said.
“Having a baby that looks very normal, but in reality he is sick — it really brings a lot of stress, because people might not believe what you are dealing with,” Jakob’s mom, Andrea Fernandez, said.
To add to an already stressful situation, the family is dealing with another big blow.
“In October, when we found out that his treatment was going to be on hold in Italy, I got the news from my doctor saying that they wanted to do surgery, because they found some pre-cancer cells on my cervix,” Fernandez said.
That surgery happened earlier this month.
“My doctor called me saying that, unfortunately, they confirmed that I do have cancer in my cervix,” Fernandez explained.
“I do have to go do a second surgery that probably is going to be more extensive.”
Fernandez said while she’s staying positive, it’s scary.
“It’s hard,” she said.
“I have a baby that needs me — I have a family.”
“Just seems like this year has been one thing after another,” Guziak said.
While Fernandez waits for answers, there’s unfortunately still no clear path for Jakob.
“We’re still fighting very, very hard every day — but now we just have another fight ahead of us,” Guziak said.
The family started a GoFundMe for Jakob’s ongoing care.
“Our goal is to obviously beat the cancer that Andrea was just diagnosed with. Our hope is that the stem cell transplant is available again in Italy and that we can raise the money to save our boy,” Guziak said.
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