Family of young Edmonton boy born with rare disease has hope after stem cell transplant
The family of a young Edmonton boy is hoping his story will help highlight the need for better access to life-saving gene therapy after he received his treatment.
Five-year-old Jakob Guziak has severe combined immune deficiency, a rare genetic condition that impairs the development and function of white blood cells that fight off infections in the body.
“In the beginning, they told me that my child might not survive his second birthday,” Andrea Fernandez, Guziak’s mother, said.
“I don’t think any parent is prepared to lose their child. It is very difficult just to bear the thought of it.”
Guziak was diagnosed when he was around 10 days old and has been getting monthly plasma injections and weekly enzyme injections to give him antibodies.
In July, the family travelled to California so Guziak could receive a stem cell transplant. Now, his body is producing the missing ADA gene, which will help him fight off infections.
The gene therapy involved taking some of Guziak’s own bone marrow, adding the ADA gene in and transplanting the marrow back.
“Of about 40 patients that we’ve treated with this approach, 38 of them did well and have been completely cured, basically,” Dr. Donald Kohn, a paediatric bone marrow transplant physician, said.
“We’re hoping that’s the case for Jakob, and everything looks fine so far.”
This treatment gives families “happiness and liberation,” and the chance for kids to lead normal lives, according to Kohn.
“It’s incredible to have the opportunity to see your child grow, and now to have the hope that you might see him for many, many more years,” Fernandez said
“Before, there was a lot of fear, a lot of anxiety … now we are able to start dreaming about what we want to do for the future, and even for Jacob, there might be the possibility of him going to kindergarten in January.”
BACK HOME AND RECOVERING
The family are now waiting for Guziak to recover from the transplant as they adjust to life without the need for weekly injections.
“Jacob’s story is a powerful reminder of the necessity for increased access to life-saving gene therapies,” Fernandez said.
The treatment was developed in collaboration with the University College London in the United Kingdom. Due to the rarity of the disease, there are not many places offering treatment.
The process is also expensive and complex, as it is unique to each patient and involves cell manufacturing.
“The real challenge is going from a research study, where we have a grant that pays for it, to making it into an approved drug,” Kohn said.
“We are working towards that now, to try and get this to be approved in the US, hopefully in Canada, hopefully in Europe, and then it can be reimbursed by insurance or by national health.”
If approved, the goal would be for patients with this disease to be able to receive this treatment when they are first diagnosed.
In the future, this method could be applied to cure other blood cell diseases, according to Kohn.
Kohn was also inspired by the courage, creativity and kindness of Guziak’s family.
“They just spread such joy through the whole floor of the hospital when they were in, to all the nurses, everyone, they were just wonderful people.”
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