Patient Stories

Father, son, and genetic counselor

Mario’s Story

Mario Luna’s health troubles started with a stomachache but quickly turned into a more serious heart condition. Rapid Whole Genome Sequencing at RCIGM identified the gene mutation causing his heart problems. After only two days on the heart transplant list, Mario received a donor heart. 

Hudson prepares to hit a big punching bag

Hudson’s Story

Hudson Wingate was suddenly stricken with paralyzed vocal cords at age 13 months. Rapid Whole Genome Sequencing revealed he had a rare genetic disorder, Riboflavin Transporter Deficiency.

Fitz runs towards the camera

Fitz’s Story

Less than a week after Fitz was born, a newborn screening test revealed a rare genetic condition called Severe Combined Immunodeficiency (SCID), commonly known as “bubble boy disease.” Rapid whole genome sequencing pinpointed the exact type of SCID and helped guide life-saving treatment decisions.


Maverick’s Story

“We went from thinking our son was going to die, to getting a diagnosis and being so thankful for genomic sequencing and how it saved his life.” – Kara Coltrin, Maverick’s Mom

Sebastiana in 2017

Sebastiana’s Story

When traditional tests failed to identify the source of Sebastiana’s seizures, she was referred for genomic sequencing. The results saved her life.

Dakota’s Story

On her first birthday, Dakota was lethargic, running a high fever and vomiting. As her condition worsened, she was rushed to Rady Children’s Hospital where she was quickly admitted to intensive care. Doctors there discovered her kidneys had stopped working but they didn’t know why. When routine tests failed to offer answers, rapid whole genome sequencing was ordered.

Rylee’s Story

Rylee was fine at first. But soon she was unable to roll over. WGS identified an error, hidden deep within her genetic code, responsible for Infantile Parkinsonism.

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