Days after their son was born in 2019, Andrea Fernandez and Kamil Guziak learned their new baby had a rare genetic disease and would be lucky to reach his second birthday.
“You’re thinking, ‘How many pictures can I have with him? How many videos can I create?’” Fernandez says. “Every moment we’re just grabbing for those memories.”
The couple, who live in Canada, learned there was a treatment that could potentially cure their son, Jakob Guziak, but regulatory red tape stood in the way.
A pioneering therapy developed at UCLA Health had proven successful in treating children with the condition Jakob had: ADA-SCID (adenosine deaminase-deficient severe combined immunodeficiency), also known as “bubble baby disease.” However, the treatment had been licensed to a company that stalled before approval from the U.S. Food and Drug Administration and the therapy became unavailable to patients.
https://www.uclahealth.org/news/story/after-life-bubble-groundbreaking-treatment-opens-jakob