"On this month’s episode of CoRDS Cast, Alyssa sits down with Caroline Yiu. Caroline’s son Alex, was diagnosed with a very rare neurodegenerative disorder called NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures.) This condition is caused by a spontaneous mutation in the IRF2BPL gene. Caroline’s family went on a 10 year journey to find a diagnosis for her son Alex. Caroline is also an advocate for families with children fighting chronic complex medical issues without a diagnosis but also those with rare diseases."
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When Cold Case Reviews Reveal New Information
"Although TGen's Center for Rare Childhood Disorders has helped hundreds of patients end their diagnostic odysseys, there have been cases we couldn’t solve. But thanks to an exciting collaboration with the industry leader in sequencing, Illumina, these cold cases will receive a boost through improved technology that enhances TGen’s sequencing capabilities, which will mean more answers for more families." www.tgen.org/news/2021/april/when-cold-case-reviews-reveal-new-information/ After launching from earth 7 months ago, NASA's Mars Perseverance Rover has landed on Mars. On board with the rover on Mars is Alex's name etched onto a microchip along with 10.9 million other names. Alex's mission to raise funds for undiagnosed children and the rare disease IRF2BPL/NEDAMSS continues through TGen Center for Rare Childhood Disorders and Stand by Eli Foundation.
https://www.tgen.org/news/2021/february/16/alex-yiu-lands-on-mars/ Unfortunately, over the years we have accumulated much time staying at the hospital. I hope other families can benefit by the few hospital essentials I shared with the Special Needs Resource Foundation of San Diego.
https://specialneedsresourcefoundationofsandiego.com/how-to-prepare-for-a-childs-hospital-stay/ Alex's name is one of the 10.9 million names on board the NASA’s Mars 2020 rover, Perseverance. launched from Cape Canaveral Air Force Station in Florida on 30 July 2020. Perseverance will be landing on Mars on 18 February 2021. Read full stories here:
Kinnerup T. (2020) “Mars Rover to Carry Name of Teen with Rare Disorder and Arizona Ties”, KTAR News 92.3 FM, 24 July. Available at: https://ktar.com/story/3425980/mars-rover-to-carry-name-of-teen-with-rare-disorder-and-arizona-ties/ Carilla C. (2020) “Latest mission to Mars a special moment for teen with Arizona ties”, Fox10 Phoenix, 29 July. Available at: https://www.fox10phoenix.com/news/latest-mission-to-mars-a-special-moment-for-teen-with-arizona-ties After speaking to Science Desk Journalist, Richard Harris at the Global Genes Patient Advocacy Summit, Alex's 12 year diagnostic journey was featured on NPR "Morning Edition". Read full story here:
Harris R. (2019) “A boy’s mysterious illness leads his family on a diagnostic odyssey”, NPR. 19 October. Available at: https://www.npr.org/sections/health-shots/2019/10/16/769462793/a-boys-mysterious-illness-leads-his-family-on-a-diagnostic-odyssey A Boy with an Extremely Rare Disorder was Finally Diagnosed Thanks to a Typo
https://patientworthy.com/2019/10/17/boy-extremely-rare-disorder-finally-diagnosed-typo/ Yahoo news just published article regarding IRF2BPL disorder.
Belkin L. (2019) “DNA Detectives: New Tech can mean a diagnosis for your child, but not a lot of answers”, Yahoo News, 26 July. Available at: https://news.yahoo.com/in-unknown-territory-parents-get-a-roadmap-from-undiagnosed-diseases-network-090000192.html After more than 10 years with no diagnosis, in the fall of 2018, by miraculous intervention, Alex was a cold case revisited at TGen’s Center for Rare Childhood Disorders and this yielded a diagnosis! See full interview at The ASHG Annual Conference in 2018 here: (2017) “Alex Undiagnosed: A Neurodegenerative disease goes unsolved”, Global Genes 1 March, Available at:
https://globalgenes.org/2017/03/01/alex-undiagnosed-a-neurodegenerative-disease-goes-unnamed/ |
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