Oregon couple start research foundation dedicated to finding cure for son’s extremely rare disease

Raiden Pham

A Beaverton, Oregon, couple is asking for help in their 1-year-old son Raiden Pham’s fight against a rare neurodegenerative disease caused by UBA5 gene mutations.

A rare disease: Linda and Tommy Pham’s baby Raiden Pham was born healthy on Feb. 26 last year.

  • He frequently vomited starting at 3 months old. Raiden’s developmental skills began to regress, and he was described as “floppy” and “stiff” by his pediatrician. He was diagnosed with the disease, of which only 30 genetically confirmed and reported cases exist in the world, in August.
  • His parents have been open about his journey and his everyday struggles, sharing videos of Raiden on social media. A recent Instagram post shows Raiden crying on a bed. The caption read: “We thought about taking him to ER because clearly he was in pain, but he finally let out a loud cry and puke up lots of mucus … This is Raiden’s reality every day, all day.”

 

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A post shared by Raiden Pham (@raiden_journey)

Establishing Raiden Science: Raiden’s parents established the Raiden Science Foundation and connected with other families whose children were diagnosed with the rare disease.

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  • Partnering with the University of Massachusetts Chan Medical School, they aim to create a gene replacement therapy program, for which they are now working to raise money
  • Last week, they launched a GoFundMe page called “Race against time to defeat UBA5,” to fund research and therapeutic development for UBA5. They have raised more than $156,490 out of their $1 million goal as of Thursday.
  • Currently, there is little to no research about diseases caused by mutations of the UBA5 gene. Less than 30 cases have been reported worldwide, and there are no effective treatments or cures for the disease. The life expectancy of those with the disease is unknown.
  • Those impacted can suffer from movement disability, cognitive impairment and uncontrollable epilepsy. 
  • “While Raiden is at high risk for seizures, they have not yet begun and so we are racing against time,” their website read. “If we can deliver gene therapy for Raiden soon enough, we may be able to reverse his disease trajectory and give him a better quality of life. We are not giving up on him.”

Featured Image via Raiden Science Foundation

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