- Posted Tuesday February 16, 2021
Feb. 18 celebration hopes to raise $30,000 for TGen Center for Rare Childhood Disorders
PHOENIX, Ariz. — Feb. 16, 2021 — Alex Yiu, a 15-year-old space enthusiast and patient of TGen’s Center for Rare Childhood Disorders is about to land on Mars — figuratively anyway. Alex’s name is etched on a microchip on NASA’s Mars rover called Perseverance.
To celebrate the landing, Alex and his family will host an hour-long public Zoom meeting for up to 500 people in an effort to raise $30,000 for TGen’s Center. TGen, the Translational Genomics Research Institute, is an affiliate of City of Hope.
The celebration-fundraiser will start at 6:30 p.m. MST (Arizona time) on Thursday, Feb. 18, within hours after Perseverance’s anticipated touch-down on the Red Planet. To register for the Zoom link, please go to https://zoom.us/webinar/register/WN_P8tzpf_eRhKkmPqzo25n8Q.
Caroline Cheung-Yiu, Alex’s mother, sees parallels between TGen Center’s search for rare disease diagnoses and the exploration of space.
“It’s all connected. It’s about things uncharted. It’s new territory. It’s unknown. It’s a long and sometimes uncertain journey,” Caroline said. “Why are we spending so much money to go explore space? Well, it’s not just about space. It’s about technological advancements that will benefit us here on Earth.”
Specifically, she says the experiments being conducted now on the International Space Station for human health and space travel are looking into the mechanisms behind neurodegenerative disease, muscle atrophy, as well as drug delivery methods, could someday lead to treatments for children like Alex.
Alex’s remarkable quest for a diagnosis
Born healthy with no complications, Alex was an active, social and happy boy. Today, he is 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.
Alex and his family, who live in San Diego, spent years searching for a cause, for a diagnosis, a name they could give to his condition. They visited TGen’s Center, but at the time there was no apparent cause for his debilitations.
In 2018, by what his mother called a “miraculous intervention,” Alex was a cold case revisited at TGen’s Center. 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. After 12 years of relentlessly searching, Alex’s family finally had a diagnosis: NEDAMSS (Neurodevelopmental disorder with regression, abnormal movements, loss of speech and seizures).
There still are no treatments for this disease, but Alex’s mom is raising funds so more cold cases could be re-visited at TGen in hopes of finding hope and answers for other children and their families.
This week’s celebration open to the public
Thursday’s celebration-fundraiser will feature a report prepared by Alex about robots on Mars, in part, inspired by the landing of Perseverance and its drone called Ingenuity, the first helicopter ever deployed on another planet.
Unlike Alex’s combined birthday party and launch celebration of Perseverance in July, which was mostly for a limited number of family and friends, Thursday’s event will be open to the public. Like the family’s event in July, it will feature music written by Alex, as well as a video describing TGen’s Center. There also will an update about the documentary film in production that captures Alex's journey to diagnosis.
Erin Massey, Chief Development Officer of the TGen Foundation, said she is amazed at the tenacity and generosity put forth by Caroline and Alex: “They have truly persevered through formidable personal challenges, and yet remain committed to helping other children and their families so they too might receive a diagnosis through TGen’s life-changing genomic sequencing.”
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.
# # #
About TGen, an affiliate of City of Hope
Translational Genomics Research Institute (TGen) is a Phoenix, Arizona-based nonprofit 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: 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: tgen.org. Follow TGen on Facebook, LinkedIn and Twitter @TGen.
TGen Senior Science Writer