Meet Sebastiana

On her first day of life, Sebastiana began experiencing seizures and was quickly transferred to the NICU at Rady Children’s Hospital-San Diego. When traditional tests failed to identify the source of her condition, she was referred for genomic sequencing. The answer came back as a novel mutation in the KCNQ2 gene. That information saved her life.
Sebastiana with her parents and two brothers
quote Our daughter was just a few days old when she received a life-saving diagnosis through genomic testing.
— Dolores Manuel, Sebastiana’s Mom

A Mystery Decoded

As the chances for the baby’s survival dimmed, the family improvised a baptism in the NICU. But when her genome was sequenced, the cause of her suffering was quickly pinpointed. Suddenly, hope appeared.

Intensive Care

Sebastiana is not yet 24-hours old when she is admitted to the Rady Children’s Hospital neonatal intensive care unit. She’s unable to eat due to seizures and is rapidly failing. She is two days old when whole genome sequencing is ordered.

24 hours old
Sebastiana newborn


WGS reveals a novel mutation in the KCNQ2 gene. She is the youngest child to be diagnosed with this. The information allows the neurologist to tailor her treatment to stop her seizures and put her on the road to recovery.

6 days
Sebastiana Going Home

Going Home

No longer seizing following the change in  medication, Sebastiana is finally able to eat and gain strength. Two weeks later, her happy grandmother cradles her as she prepares to leave the hospital.

18 days
Young girl sitting on grass and smiling


Sebastiana continues to be seizure free. While she has a few physical complications and developmental delays associated with the seizures she had as a baby, Sebastiana has made great progress in therapy. Her mother, Dolores, says Sebastiana is a helpful and imaginative girl – she loves helping clean up after dinner and pretending she’s Anna from the movie Frozen. She has equine therapy once a week and adores horses. She also enjoys singing and drawing and loves to read a book every single night.

Dolores is deeply grateful to Dr. Stephen Kingsmore and all the other providers who have helped Sebastiana. “To see her start kindergarten, after worrying she might not live or may have to be in a hospital her whole life,” she says, “it’s just the best feeling in the world.”


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