PKD Life - Summer 2020 - 19

W

hen her sons, Grady and
Dylan, were ages 1 and 3,
Katie Cox, who has ADPKD,
learned about technologies that allow a couple to have children
without the genetic mutations linked
to the disease. "I said, 'If that's possible,
I'm not having more children unless
we do that,'" says Cox, 39, who lives in
Grapevine, Texas, "because that, to me,
is a cure."
Soon she and her husband had started
the process that would lead to the birth
of their twins, Sarah and Elizabeth, now
5. The process relies on technology
called preimplantation genetic testing (PGT). PGT involves using assisted
reproduction technology to harvest and
fertilize a woman's eggs, then testing
the embryos for the specific mutations
behind a family's PKD and implanting
only embryos without that mutation for
the mother to carry to term.
It wasn't easy, but the nearly two-year
process worked out in the couple's favor.
"We have two beautiful girls who will
never experience this disease," Cox says.
Cox is just one of a growing number
of parents with PKD who undergo such
procedures in order to secure a healthier
future for their children-one without the
pain, inconvenience, expense, and heartache that often accompany the disease.
"Fortunately, we now have had the
ability to prevent the passage of this
gene to the offspring by utilizing PGT,"
says Irene Souter, M.D., director of the
Preimplantation Genetic Diagnosis
Program at the Massachusetts General
Hospital Fertility Center in Boston.

HOW IT WORKS

PGT can be time-consuming and emotional. "It becomes the No. 1 thing in
your life for a while," says Beth Leabo, 43,
a nurse in Forest Grove, Oregon, whose
8-year-old son, John, was conceived with
the technology.

The Leabo
family (opposite page)
and the Cox
family (at left)
have both
benefited
from preimplantation genetic testing.
The figurine
in the Leabo
family photo
is in honor of
Eric Leabo,
who loved
Godzilla.

"We also try to

Leabo and her
husband, Mike,
were carriers for
ARPKD, but they
didn't know it until
their first son, Eric,
was born in 2003.
He died of complications from ARPKD
in 2013. "These kids
go through hell,"
she says. "I couldn't
imagine just going
out and rolling
the dice."
The process starts with a reproductive
endocrinology and infertility specialist,
who performs a comprehensive preconception evaluation and screening,
as if the couple were being treated for
infertility. "We check everything from a
woman's ovarian reserve (which reflects

a woman's reproductive potential) to
sperm quality," Dr.
Souter says. "We
also try to find out
whether the couple
is also dealing with
other challenges that
they don't know of.
Somebody could be a
carrier of PKD, but at
the same time they
could also be carriers
for cystic fibrosis."
Next, the couple is connected with
a genetic testing laboratory that will
identify the family's unique PKD mutations and will construct probes that are
unique to the couple (tools to identify
the specific mutation). That involves getting blood samples, or more often cheek
swabs, not only from the prospective

find out whether
the couple is

also dealing with
other challenges
that they don't
know of."

P K D C U R E .O R G

19
http://www.PKDCURE.ORG
PKD Life - Summer 2020

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