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Mario Luna’s health troubles started with a stomachache but quickly turned into a more serious heart condition. Ultra-rapid whole genome sequencing at RCIGM identified the gene mutation causing his heart problems. After only a few days on the heart transplant list, Mario received a donor heart.
My whole world just came crumbling down because I was like, how do we go from stomachache to heart transplant so quickly? It turned out that my genetics held the clue and the cure.”
— Mario Luna, eighth grade
By the time Mario was admitted to Rady Children’s Hospital-San Diego, his heart function had deteriorated to the point that the doctors put him into a medically-induced coma. Ultra-rapid Whole Genome Sequencing helped speed up his treatment plan.
It started as a stomachache. But before long, eighth grader Mario’s heart was beating uncontrollably and his breathing was labored. After being rushed to an emergency room in Orange County, he was transferred to the specialists at Rady Children’s Hospital-San Diego.
Mario’s parents mentioned there was a family member with similar health issues, which made the Rady doctors more suspicious of a potential genetic cause. They ordered genomic testing for Mario.
Just one day after his blood was drawn, ultra-rapid whole genome sequencing showed Mario had a mutation in a gene called TTN. This gene produces a protein called Titin that helps heart muscle cells stick together and contract properly. However, due to the gene mutation, Mario’s body couldn’t make a normal functioning Titin protein, which led to his heart problems.
The genetic diagnosis confirmed that Mario was not suffering from a temporary condition from which he could potentially recover. This enabled the doctors to move swiftly towards the decision place Mario on the heart organ donation list ASAP.
Four days later, Mario received a heart transplant.
Getting back to his favorite activity — basketball — kept Mario motivated throughout his hospitalization and recuperation. He’s back home in Culver City now, though he continues to come to Rady Children’s weekly for physical therapy. He dreams of becoming an NBA star one day.
© 2024 Rady Children's Institute for Genomic Medicine.
