tensive care. The Centers for Disease Control and Prevention estimate
that 3 percent of the roughly 11,000 babies born every day in the U.S.
have genetic diseases that leave doctors puzzled. Sebastiana was one
of those babies. Typically, such cases lead to a gauntlet of tests as doc-
tors and parents search for answers. But Sebastiana was fortunate to
be transferred to Rady Children’s, where doctors can access advanced
diagnostic technology that offers a shortcut to a precise answer.
“If we have a baby who has seizures and no known cause, we refer
them for genetic testing,” Dr. Gold says. So, on day two of Sebastiana’s
life, a vial of her blood was sent around the corner from the NICU to
the Rady Children’s Institute for Genomic Medicine.
There, research scientists extracted her DNA and sequenced her
entire genome. Just 10 years ago, this procedure could have taken
weeks and cost upward of $10 million—but rapid whole genome se-
quencing zeroed in on Sebastiana’s exact diagnosis in just four days.
Ohtahara syndrome with KCNQ2 mutation was causing her seizures;
knowing this diagnosis allowed Dr. Gold to make an immediate
// Healthy Kids Magazine
change in her medication and end sedation so Sebastiana
could wake up and eat.
“This diagnosis is rare and usually devastating,” says Dr.
Gold. “Almost inevitably, it’s associated with developmental
delay and severe neurological damage.” About half the chil-
dren with the syndrome do not reach their second birthday.
But Sebastiana is charting a new course. She improved
quickly after the adjustment in her medication. Less than
three weeks after she was born, she was released from the
Hospital. Her parents took her home on Christmas Day, and
their extended family gathered for a joyful celebration.
Since then, Sebastiana has continued to grow and delight
her parents and doctors with her progress. These days she
sparkles with life, interacting with her loving family and ex-
ploring her world. “She smiles every morning and it’s beauti-
ful,” says her father, Pascual, bouncing her on his knee. “She
wakes up, she eats, she smiles, she giggles—it’s perfect.”
Sebastiana is receiving therapy to support her cognitive
and physical development. Dr. Gold says she has exceeded
her neurological specialists’ expectations. “So far, she’s do-
ing as well as I could possibly have hoped.”
RAP I D ADVANC E S
Such a positive outcome was unthinkable not long ago.
The Rady Children’s Institute for Genomic Medicine began
performing rapid whole genome sequencing in July 2016.
The year before Sebastiana was born, another baby with sei-
zures was admitted to the NICU. In the absence of genomic
sequencing, it took six weeks to reach a diagnosis in the
“If we have a baby
who has seizures and
no known cause, we
refer them for
J E F F R E Y
GO L D , MD