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