Oregon child battles ‘beyond rare’ genetic mutation
Raiden Pham diagnosed with UBA-5 mutation
BEAVERTON, Ore. (KOIN) – Just 21 months ago, Tommy and Linda Pham welcomed their son Raiden into this world. But when he was 3 months old, they noticed something was wrong.
“He wasn’t hitting the milestones. He started to vomit a lot. I thought it was me. I had so much milk so the doctor said [to] try the bottle and I did, but he was still throwing up 10 times a day, ”Linda told KOIN.
What followed for the Phams was a series of doctor’s visits and tests, but medics were unable to determine what was going on until last summer. That’s when the Phams had Raiden’s 20,000 genes tested.
This time the doctors found something.
Raiden has a mutation of the UBA-5 gene, a progressive, life-threatening neurological disorder.
“We don’t know much about it. It is ultra rare. It’s more than rare, ”said Linda. “Only 30 or 40 cases worldwide.”
there is no treatment. And no cure.
After a month in a dark place, Tommy said he started using his contacts in medical research and finally heard from the University of Massachusetts. Their researchers, he said, were interested in providing gene replacement therapy for UBA-5.
The Phams jumped at the chance and formed the Raiden Science Foundation raise funds for research.
“We decided to kick off Thanksgiving,” Tommy said. “Oh my gosh, the amount of support, just a small community. People re-share, repost.
They need a million dollars to get started. Friday, just a few weeks after the start of the effort, they had lifted over $ 165,000.
U-Mass officials told KOIN that the money raised would likely be used for three purposes: to fund research to develop gene therapy vectors specific to UBA5; hire scientific research staff dedicated to this project; and conduct initial preclinical efficacy and safety studies.
Their efforts boost Tommy and Linda’s morale, even with Raiden’s uncertain future.
“As a mom it’s like, there’s nothing you can do but hope for,” Linda said.
Over time, the Phams will likely need to raise $ 2-3 million. In extremely rare cases, it is common for families to get involved in fundraising, as there is usually no government funding.
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