RARE MAMAS RISING- EPISODE 014

A North Star in a Rare Universe with CURE Founder and Rare Mom Caroline Cheung-Yiu

For over 12 years, a cruel and debilitating disease slowly robbed Caroline's son Alex of his abilities. Countless medical and genetic tests and some of the best physicians, scientists, and researchers in the world were perplexed by Alex's condition. Then in 2018, through miraculous intervention, Alex's genetic data was reanalyzed, and he was found to have a newly discovered, rare, non-inherited, spontaneous genetic disease called NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures) or IRF2BPL related disorder. During the time Caroline was relentlessly seeking answers for her son's constantly shifting illness, she created a community called Complex, Undiagnosed, Rare, and Extraordinary (CURE). CURE connects families lacking a diagnosis for their child and empowers them with local resources to forge ahead in their diagnostic odyssey. Caroline believes we are all stars lighting up the sky in the rare universe, and once you meet Caroline, you'll undoubtedly see why for those in the undiagnosed community, she's a "North Star!"

EPISODE HIGHLIGHTS

• The unlikely way Alex's diagnosis was ultimately discovered (you won't believe it)
• How Caroline maintained hope as years passed without answers
• Caroline's best resources and insights for parents whose children are still on a diagnostic journey

LINKS & RESOURCES MENTIONED

Caroline Cheung-Yiu

www.cureundx.com

www.alexsodyssey.com

Undiagnosed Disease Network - NIH

https://undiagnosed.hms.harvard.edu/about-us/

Rare Genomes Project - The Broad Institute

https://raregenomes.org/

Center for Rare Childhood Disorders - TGen

https://www.tgen.org/patients/center-for-rare-childhood-disorders/

Precision Medicine Clinic - Rady Children's Genomic Institute

https://radygenomics.org/families/

Manton Center for Orphan Disease Research - Boston Children's Hospital

https://www.childrenshospital.org/research/centers/manton-center-orphan-disease-research/information-patients-and-families

iHope Genetic Health - Illumina and Genetic Alliance

https://ihopegenetichealth.org/

CONNECT WITH NIKKI

Facebook

https://www.facebook.com/RareMamas1/

Instagram

https://www.instagram.com/Rare_Mamas/

Website

https://raremamas.com/

Email

[email protected]