Giving Back Magazine October 2019 | Page 69

Neonatal intensive care physicians ordered nearly 30 tests in hopes of saving Maverick’s fragile life. One of those tests included rapid whole genome sequencing as part of a clinical trial through Rady Children’s Institute for Genomic Medicine. Exactly 39 hours later, researchers arrived at a diagnosis - two mutations on Maverick’s ALDH7A1 gene, the gene responsible for causing a rare form of seizures called pyridoxine-dependent epilepsy. Following changes to his treatment protocol and about 36 hours post-diagnosis, Maverick was no longer seizing. He was taken off of the ventilator, his parents were able to hold him, and he was able to eat. About a week and half later, Maverick was able to go home with his parents. His turnaround was incredible. Maverick’s diagnosis held important information for his parents as well. They both are young and were each found to be carriers for the genetic condition. “If we decide to have more children, I would just have to take a B6 supplement to ensure that it goes through me to the baby,” Kara shared with GB Magazine. “It’s amazing to see how big he’s gotten and to watch the things that he’s able to do and how he has grown!” The 111th Anniversary Charity Ball, Leap Into The Future, will help to build the infrastructure that will make it possible to sequence the genome of every child who is treated and cared for at Rady Children’s. This will dramatically increase the ability to diagnose disease and develop effective treatments to improve and save children’s lives. Join us February 29, 2020 to make a difference. PRESENTED BY PLEASE JOIN US IN CELEBRATING MAAC’S IMPACT IN THE COMMUNITY OXFORD SOCIAL CLUB AT PENDRY SAN DIEGO 435 FIFTH AVENUE, SAN DIEGO, CA 92101 Dinner by the bite, refreshments, & entertainment WITH GRATITUDE TO OUR MAAC FAMILIA SPONSORS www.helpsdkids.org/charityball MirKa Investments LLC CRP Affordable Housing & Community Development Sponsorship opportunities & individual tickets available RSVP online at MAACsoiree2019.eventbrite.com Or call 619.426.3595 Shareef Nahas, Senior Director Clinical Operations, Rady Children’s Institute for Genomic Medicine with 111th Anniversary Charity Ball Co-Chairs Joyce Glazer and Angie Lasagna OCTOBER 2019 | GBSAN.COM 69