- Posted Thursday July 23, 2020
Alex Yiu, whose rare neurological disorder was diagnosed by TGen, will celebrate a combination birthday and ‘Perseverance’ pre-launch party and fundraiser on July 25
PHOENIX, Ariz. — July 23, 2020 — Alex Yiu, whose once-mysterious and debilitating disease was eventually diagnosed by the Translational Genomics Research Institute (TGen), an affiliate of City of Hope, turns 15 years old this week.
And to celebrate his birthday, NASA is sending Alex to Mars.
Alex, who has been a space enthusiast since he was a young child, couldn’t be happier about it.
His name is etched on a microchip embedded on the newest and most sophisticated Mars rover called Perseverance. It is set to launch from Florida sometime between July 30 and Aug. 15, and land on Mars in February inside the 30-mile-wide Jezero Crater, which scientists — including those at ASU and UofA — think was once a large water-filled lake. The Perseverance rover will collect rock and soil samples, seeking signs of ancient life. Aboard the rover will be the Mars Helicopter, the first drone ever deployed on the Red Planet.
Alex’s mother, Caroline Cheung-Yiu, says her teenage son is looking forward to the launch. To celebrate, his family is hosting a virtual combination birthday and prelaunch party as a fundraiser for TGen’s Center for Rare Childhood Disorders.
Alex has always been fascinated about space. He helped build a model of the solar system in middle school, loves Star Wars movies, and even dressed as Darth Vader for Halloween.
“When he was younger and we took him to science centers, he was always interested in space,” Caroline said. Alex still loves watching the NASA channel on TV. As a gift from one of his special education teachers, Alex's name is one of 10.9 million names etched on the microchips on board Perseverance.
Once healthy child now has debilitating condition
Born healthy with no complications, Alex was an active, social and happy boy. Today, he is entirely dependent on his family for his care and activities of daily living. He is fed via a tube, cannot walk, cannot talk and relies on a non-invasive ventilator to breathe. He communicates by blinking his eyes.
At age 3, Alex walked with an unusual gait. His motor skills and coordination became awkward. Gradually he became increasingly clumsy on his feet, requiring increasing support to walk safely. He could no longer walk by age 6. Progressively, his speech slowed and slurred and by age 7 his family could no longer understand him. Eating and drinking became challenging.
Family life for Alex revolved around a multitude of doctor consults for health issues, traveling for appointments with neurologists at leading institutions, a slew of tests and applications to programs dedicated to undiagnosed patients. His initial visits to TGen nearly a decade ago yielded no significant findings.
“We held onto the hope that once we found the cause, we could find treatments,” Caroline said. “We reached out to researchers, specialists, and other parents already lighting the way.”
Accidental discovery of diagnosis by TGen
In the fall of 2018, by what his mother called a “miraculous intervention,” Alex was a cold case revisited at TGen’s Center for Rare Childhood Disorders. A mutation in a gene called IRF2BPL had just been discovered earlier that year.
Keri Ramsey, a nurse and Clinical Co-Director of TGen’s Center, was searching for another patient when she accidentally came across Alex’s file. Using a new computer diagnostic tool, and having recently seen two new scientific studies about IRF2BPL, Ramsey found that Alex had this same mutation.
“Immediately, I saw this mutation in this gene,” Ramsey said. “It was perfect timing.”
After 12 years of relentlessly searching for answers to Alex’s progressive neurodegenerative condition, Alex’s family finally had a diagnosis: NEDAMSS (Neurodevelopmental disorder with regression, abnormal movements, loss of speech and seizures).
Unfortunately, there are as yet no treatments for NEDAMSS. Still, while Alex’s family waits for a breakthrough, they are raising funds so that other TGen patients and their families can receive a diagnosis.
“What’s amazing about Alex’s mom is that she continues to fight for other families who still don’t have a diagnosis. To her, it’s still so important, and that’s why she continues to reach out to us because she knows the value of having that diagnosis and because for so many years they didn’t have it,” Ramsey said.
“Our hearts ache knowing that there are other families struggling and feeling alone with no diagnosis,” Caroline said. “We shall never give up, we forever hold onto hope, and just like the Mars Rover Perseverance, our perseverance continues.”
To contribute to a fund in Alex’s name to TGen’s Center for Rare Childhood Disorders, please go to: https://www.tgen.org/alex.
Alex’s combined birthday and pre-launch party starts at 1 p.m. Arizona and California time this coming Saturday, July 25, and will feature a country love song written by Alex. To join the party, please RSVP here to get your Zoom boarding pass.
To see a story about Alex produced by National Public Radio, click here.
To see Alex’s Countdown to Mars on Vimeo, go to: https://vimeo.com/439803390.
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About TGen, an affiliate of City of Hope
Translational Genomics Research Institute (TGen) is a Phoenix, Arizona-based non-profit organization dedicated to conducting groundbreaking research with life-changing results. TGen is affiliated with City of Hope, a world-renowned independent research and treatment center for cancer, diabetes and other life-threatening diseases: www.cityofhope.org. This precision medicine affiliation enables both institutes to complement each other in research and patient care, with City of Hope providing a significant clinical setting to advance scientific discoveries made by TGen. TGen is focused on helping patients with neurological disorders, cancer, diabetes and infectious diseases through cutting-edge translational research (the process of rapidly moving research toward patient benefit). TGen physicians and scientists work to unravel the genetic components of both common and complex rare diseases in adults and children. Working with collaborators in the scientific and medical communities worldwide, TGen makes a substantial contribution to help our patients through efficiency and effectiveness of the translational process. For more information, visit: www.tgen.org. Follow TGen on Facebook, LinkedIn and Twitter @TGen.
TGen Senior Science Writer