The Culture of Different MKTG_150064494_2018 Service Line Big Book Full_FIN | Page 28

Prevention in the
Uncharted World of
Childhood Polyposis
Ana Villanueva is anxious.
Understandably so: six weeks
ago, her nephew was diagnosed
with an aggressive adrenal
cancer. Two weeks later, her
3-year-old son, Jaime, had a
Gardner fibroma removed from
his neck. *
Jaime’s tumor wasn’t cancerous,
since Gardner fibromas can’t
spread. But they can indicate a
mutation of the adenomatous
polyposis coli (APC) gene.
Among other functions,
APC helps control how cells
divide. It’s known as a “tumor
suppressor” gene — which
offers a good idea of what
happens when something in
APC goes wrong.
What happens is commonly
known as familial adenomatous
polyposis, or FAP, characterized
by the development of more
than 100 adenomatous polyps
in the colon, which might not
happen until the late teens or
20s. Left untreated, adenomas
proliferate and eventually turn
malignant. Cancer can develop
as early as the teens — but it’s
preventable.
That’s just one of the cases
on the docket today at the
Children’s Hospital Colorado
Pediatric Polyposis and
Predisposition to Cancer Clinic
— P 3 C 2 for short.
“We’re interested in children
and families with inherited
predisposition to colon and
gastrointestinal tract cancers,
most of whom present
with polyps,” says pediatric
gastroenterologist Edward
Hoffenberg, MD, one of the
clinic’s founding physicians.
Polyposis generally isn’t
a malignant process, but
some forms come with a
high chance of eventual
malignancy, and the diseases
that cause them tend to run
in families. The clinic was
created to serve these families:
gastroenterologists for polyps
and bleeding and associated
complications; genetic
counselors to incorporate
the genetic information of
these dise ases into the care
of affected kids and their
relatives; oncologists to treat
the cancers that manifest
outside the GI tract.
MULTIDISCIPLINARY
SPECIALTIES
FEATURED:
Cancer
Gastroenterology
and GI Surgery
(From left) Pediatric gastroenterologist Edward Hoffenberg, MD; genetic
counselor Alexandra Suttman, MS, CGC; and pediatric oncologist
Lindsey Hoffman, DO, talk genetics with a patient and her mom.
Dermatology
Genetics
Ophthalmology
Pediatric Surgery
FAP, for example, can come with irregularities
in the eye and a variety of skin tumors, like
Jaime’s Gardner fibroma. The polyposis
program also ties in surgeons, endocrinologists,
ophthalmologists and other specialists as
needed. One of just a few programs in the
nation built around its central triumvirate —
gastroenterology, oncology and genetics — it
harnesses a dedicated team for all aspects of
polyp-associated conditions, all in one place.
Jaime might have FAP, or the fibroma might just be
a one-time fluke. Genetic testing, the first step in
the process, might offer some clarification.
*Names and details have
been changed to protect
patient privacy.
and his 7-year-old brother Esteban — dressed
in identical penny loafers and golf caps — play
quietly. Esteban pushes a truck and sings softly
in Spanish. Jaime climbs into his mother’s lap,
changes his mind and climbs out. A purple scar
from the resection of the Gardner fibroma is still
visible on his neck. Ana absently checks her phone.
Her husband, Jorge, stares at his hands.
Kami Wolfe Schneider, MS, CGC, one of the clinic’s
two genetic counselors and the first specialist
they’ll see today, greets the family and sits down.
“So what’s your understanding of what you’re here
for today?”
Exploring the genetic link Ana flinches and drops her phone. “We don’t have
a clue,” she says.
Afternoon sun spills through the consult room’s
big window, overlooking high clouds and the
distant Rocky Mountains. Nobody’s looking. Jaime For the next 45 minutes, Schneider walks Ana and
Jorge, both of whom have a high school education,
The Culture of Different
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