Raiden Pham was diagnosed with the UBA-5 . mutation
BEAVERTON, Ore. (KOIN) – Just 21 months ago, Tommy and Linda Pham welcomed their son Raiden into this world. But when the boy was 3 months old, they realized something was wrong.
“He didn’t hit the milestones. He started vomiting a lot. I think that’s me. I got a lot of milk, so the doctor said [to] Try the bottle and I did, but he still throws up 10 times a day,” Linda told KOIN.
What’s next for Phams is a series of medical exams and exams, but doctors weren’t able to pinpoint exactly what was going on until this past summer. That’s when the Phams with all 20,000 Raiden genes were tested.
This time, the doctors figured something out.
Raiden has a UBA-5 gene mutation, a progressive, life-threatening neurological disorder.
“Not many people know about it. It’s extremely rare. It’s not uncommon,” Linda said. “There are only 30 or 40 cases in the world.”
There is no treatment. And there is no cure.
After a month in the dark, Tommy said he started using his contacts in medical research and eventually got word from the University of Massachusetts. Their researchers are interested in coming up with gene replacement therapy for UBA-5, he said.
Phams took the opportunity and established Raiden Science Foundation to raise funds for research.
“We decided to come out on Thanksgiving,” said Tommy. “Oh my, the donation, just a small community. People are re-sharing, re-posting”.
They need $1 million to get started. As of Friday, just a few weeks after the effort, they had raised more than $165,000.
U-Mass officials told KOIN that the money raised will likely be used for three purposes: funding research and development of gene therapy vectors specific to UBA5; hire scientific research staff who will be dedicated to this project; and performed initial, preclinical studies of efficacy and safety.
Their efforts are boosting Tommy and Linda’s morale, even as Raiden’s future remains uncertain.
“As a mother, you can’t help but hope,” says Linda.
Over time, Phams will likely need to raise between $2 and $3 million. In extremely rare cases, families often participate in fundraising, as there is usually no government funding.
https://kfor.com/news/oregon-toddler-fights-beyond-rare-gene-mutation/ Oregon boy struggles with ‘rare’ gene mutation