Tommy Pham manages gaming partnerships at Nike Inc., but his LinkedIn profile highlights another role that has become nearly all-consuming since his son was born last year: “Rare Disease Dad.”
A disease with no name turned his family upside down, but in just a few months, Pham formed a foundation, raised thousands of dollars and signed up a research partner. The future is still uncertain, but Pham seems ready to do what it takes.
“What other choice do I have? Accept fate or fight for this?” Pham mused in an interview last week.
On Feb. 26, 2020, Pham and his wife Linda, who was his high school sweetheart at Benson Polytechnic High School in Portland and who also works at Nike, welcomed Raiden Kai, their second child.
Raiden seemed like a normal, healthy baby. Then at the three-month mark, the Beaverton couple noticed some troubling symptoms. Raiden was throwing up a lot, arching his back stiffly. They tried different formula blends and bottles, but nothing made a difference. Raiden stopped hitting his developmental milestones. Doctors thought he might have cerebral palsy.
“He was pretty floppy and stiff at the same time,” Pham recalled.
In September last year, Raiden spent 10 days at Randall Children’s Hospital undergoing tests. Everything came back within a normal range. He went home with a feeding tube in his nose.
“That made him puke even more,” Pham said.
They took him to Doernbecher Children’s Hospital, where an MRI showed no brain damage, but an EEG showed him to be at risk for seizures.
At 9 months, he could not control his body, crawl, sit, roll or hold up his head. Despite weekly therapy sessions, Raiden made little progress. The Phams made the tough decision to have a feeding tube surgically inserted in Raiden’s stomach, but the vomiting continued.
They turned next to genetic sequencing. It took about five months to get all 20,000 of Raiden’s genes analyzed for defects. They finally got some answers.
It turned out that Raiden has an extremely rare neurodegenerative disorder caused by a mutation of the UBA5 gene, which contains instructions for a protein that’s critical to cellular breakdown and function.
A rare disease is defined as affecting fewer than 200,000 people. What Raiden has is ultra-rare: Only 30 other children have been diagnosed with the disorder since 2016. Most kids have seizures, their cognitive level stays at about 2 or 3 months old and they cannot walk or talk. Life expectancy is unknown.
“Our hearts sank,” Pham said. “It’s so rare, there nothing much out there, not much research, no treatment or cure. At this point, we just accept the way he is and all the seizures that are coming. We spent a month in a dark place trying to figure out what to do next.”
They took a family trip to Hawaii. They also decided to start a foundation to fund research into UBA5 mutations and accelerate development of therapies.
“We need to raise money up front to get things started,” Pham said. “It’s so rare, universities are not going to invest in it, and neither is the government, and sure as heck the pharmaceutical industry won’t. It’s up to the parents.”
They have raised $150,000 from friends and family and a GoFundMe campaign. Pham’s “moonshot goal” is to raise $1 million, spread among several university research labs.
Pham cold-called universities doing research in gene therapy. The University of Massachusetts responded, and the foundation provided enough seed funding to dedicate a full-time technician to the project, which is being spearheaded by a junior faculty member who is mentored by a more senior researcher.
“There are 7,000 rare diseases, and not enough of us,” said Miguel Sena Esteves, an associate professor at UMass Chan Medical School and director of the Translational Institute for Molecular Therapeutics.
Esteves had not heard of the UBA5 protein or gene, much less the disease. But the institute does have deep experience in running clinical trials for rare diseases.
“There are specifics for each disease, but what we learn from other diseases prepares us to do this more efficiently,” Esteves said. “We can leverage other knowledge.”
The goal is to eventually provide a patient’s cells with the instructions to make the normal protein, using a virus vector engineered to be safe. Two drugs have already been approved that use that approach, one for congenital blindness and the other for spinal muscular atrophy.
“At the end of the day, it’s an experiment,” Esteves said. “It still involves some degree of risk.”
Pham was able to raise enough to sustain the lab’s research for about six months.
“It was shocking, how fast he was able to raise the money,” Esteves said. “We’re like, 'Cool, let’s get moving.'”
Pham said he drew on his background studying biology at University of Portland, his MBA and his work at OHSU’s technology transfer office to pull together the foundation so quickly. His team includes Chris Andon, director of digital patents and Metaverse IP for Nike; Ruth Napier, an assistant professor at OHSU; and Dr. Aaron Ciechanover, a Nobel laureate in chemistry who serves on the foundation’s scientific advisory committee.
“I don’t want to be in this situation, but since I’m in it, if we can accelerate the process, we may be able to help other kids suffering currently or in the future,” Pham said.
Pham has met with most of the families of the kids who have been diagnosed with the UBA5 mutation over Zoom calls to Canada, Brazil, Australia and the U.S.
“Part of starting a foundation was to empower families to make a difference, to take an answer from a doctor who says nothing can be done, and no, I’m going to fight for this, especially when gene therapy is advancing rapidly,” he said.
Meanwhile, the Phams spend about six hours a day feeding Raiden, who still gets nutrition through a tube. They do intensive therapy every morning to aid his motor and cognitive development. And as a video of his journey attests, Raiden is “still full of smiles and giggles.”
