Oliver Marley was born with an extremely rare condition that has affected less than 30 patients worldwide. CHOC specialists were able to diagnose him after ordering the cutting-edge test of rapid whole genome sequencing (rWGS).
Sadly, Oliver succumbed to his disorder and died unexpectedly on July 4, 2021, after suffering a heart attack while awaiting a liver transplant. He passed away just short of his first birthday.
Since July 2017, CHOC has run rWGS tests on 150 patients to identify the genetic causes for some of the rarest and most serious diseases in children. In 76 of those patients, CHOC doctors were able to get a precise diagnosis that, in many cases, has resulted in life-changing care.
Oliver had two extremely rare genetic changes in his AHCY gene that potentially resulted in S-AdenosylHomocysteine Hydrolase (SAHH) deficiency. The disease, which affects brain, muscle and liver development, is associated with high blood levels of methionine and extremely high levels of toxic S-AdenosylHomocysteine (SAH) that interferes with vital cellular growth.
CHOC continues to fund rWGS on a case-by-case basis, but Oliver’s parents want to do their part to raise money for these potentially life-saving tests.
“We were given the upmost respect and love by the entire CHOC team and though Oliver’s passing was incredibly unbearable, we had an immense amount of peace surrounding us that day,” Caroline Marley, Oliver’s mother, said. “We couldn’t be more grateful.”
The “Angels like Oliver” fundraising website can be found here.