The story of Raiden
Raiden Kai Pham was born February 26th, 2020, right before the start of the pandemic in Portland, Oregon. With arms flexing, he was ready to take on the world, well deserving of his name ‘God of Thunder and Lightning’. For his first three months, he was a healthy and happy baby sleeping through the night.
Shortly after three months, Raiden started to frequently vomit. We tried all bottle shapes and formula blends, but nothing helped. During every feeding, he would continuously projectile vomit, while arching his back, stiffly upwards. He also started to regress in skills and future milestones came and went without achievement. His pediatrician described him as being both floppy and stiff.
In September 2020, at seven months old, due to dangerously low weight, Raiden was admitted into the hospital for a feeding tube placement through his nose, monitoring his condition and running countless tests to determine what was wrong. Most blood tests came back within normal range, his MRI showed no brain damage, but his EEG showed that he was at risk for seizures requiring annual monitoring. The geneticist told us to take a ‘wait-and-see’ approach in his development.
The ‘wait-and-see’ approach quickly became eventful. At nine months, Raiden’s development continued to stall, not achieving any further baby milestones. Raiden could not control his body; he could not crawl, sit, roll, or simply hold his head up.
We started weekly therapy sessions (physical, occupational, speech, early intervention) for him in the clinic and at home several hours a day to help him with little progress.
We quickly started our crusade to find an accurate diagnosis and treatment by visiting a variety of medical specialists. Yet, even so, Raiden continued not to develop and failed to thrive. Upon the recommendation of his doctors, we made the difficult decision to pursue Gastrostomy (G-Tube) surgery, providing a route for tube feeding directly into his stomach. The surgery was performed ten days before Christmas, giving us hope for the new year.
The G-Tube placement helped, but not much. He still vomited daily. However, Raiden was slowly making gains cognitively, making more sounds, more eye contact, and starting to giggle. Shortly after Raiden’s first birthday, he was officially diagnosed with quadriplegic cerebral palsy (CP) with an unknown cause.
To further explore the potential underlying cause of his CP diagnosis, we pursued Whole Exome Sequencing, testing all 20,000 of his genes for the defect. On August 2nd, 2021, we received Raiden’s official diagnosis as an ultra-rare genetic disorder caused by the UBA5 gene mutation. It is neurodegenerative, causing epilepsy, movement disorder, cognitive impairment, and life expectancy is unknown. We were told nothing could be done, and doctors would treat the symptoms as they came. Our hearts sank after hearing his official diagnosis.
But we do not give up on Raiden! As we connect with more rare disease families around the country and read about the advancement of gene therapy, we find there is hope. Raiden is young and still progressing cognitively, which means there is an opportunity to change his trajectory before things get worse. From what we know about the disease, it’s not a question if seizures will happen for Raiden, but when and how severe. We started the Raiden Science Foundation to find and fund a path forward for UBA5 treatment as fast as we can.