Meet Fitz

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.

Fitz and his parents

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Rady Children’s Institute for Genomic Medicine was instrumental in our son’s life in helping determine what path he was going to go down after getting his diagnosis.

— Christina Kettler, Fitz’s Mom

Changing the Trajectory

The prognosis was devastating.
Babies with Fitz’s condition have no immune system and often do not reach their first birthday.
Rapid Whole Genome Sequencing provided crucial information that would start the Kettler family on a journey of hope.

Fitz's father visits newborn Fitz and his mother

Initial Diagnosis

Fitz appears perfectly healthy at birth. Just 36 hours after returning home from the hospital, though, a newborn screening test shows Fitz has SCID. He is admitted to Rady Children’s.

June 2019
Baby Fitz at Rady Children's Hospital

Sequencing Ordered

Whole genome sequencing, completed within 92 hours, reveals that Fitz has Artemis-deficient SCID (ART-SCID), one of about 20 variations of the disorder. The precise diagnosis allows Fitz to qualify for a gene therapy clinical trial.

10 days
old
Fitz in the hsopital

Gene Therapy

Fitz spends four months at UCSF Benioff Children’s Hospital in San Francisco. Doctors extract his stem cells, inject them with a corrected copy of the flawed gene that causes SCID, then infuse the cells back into Fitz’s body. The new cells provide instructions for his body to develop a healthy immune system.

August 2019
Fitz runs towards the camera

Full Speed Ahead

Thanks to the gene therapy, Fitz’s immune system rebounded. This medical science trailblazer is now an active, happy and curious 2 ½ year old, who will soon have a baby sister.

2022