PKD Life - Winter 2020 - 19

LACK OF TREATMENT

ASHLEY SCHNEIDER

There is no approved treatment for children
with PKD, although potential therapies are being
tested. As a result, some argue, there's no benefit
to screening children who are asymptomatic, and
they should be allowed to decide for themselves
when they turn 18.
"Not testing minors protects the autonomy of the
child to ensure they understand the information
presented and know what that decision means,"
says Rachel Full, M.S., C.G.C., a genetic counselor at
NorthShore University HealthSystem in Chicago.

We Said No to Testing

D

eciding whether to get
a test for a life-altering
disease is always fraught.
But it's particularly tricky
for parents with PKD who fear
passing their disease along to
their children.
The question revolves around
"healthy" children-those currently without symptoms but
who may have inherited the
disease. That is often the case for
children of parents with the autosomal dominant
form of PKD (ADPKD), in which symptoms often
emerge in adulthood.
Testing may also be considered for siblings of
children diagnosed with the autosomal recessive form of PKD (ARPKD). Although people with
ARPKD usually have disease symptoms very early
in life, in some cases they can crop up as a child
matures or even in adulthood.
"It's a personal decision," says Erum A. Hartung,
M.D., a pediatric nephrologist and an assistant
professor of pediatrics in the Perelman School of
Medicine at the University of Pennsylvania. "What
we as physicians can do is to lay out the potential
upsides and downsides of screening and let each
family decide for themselves."
Should you find out if your child is destined to
develop PKD? Here are some key considerations.

BILL BRAZELL,
MILLBURN,
NEW JERSEY
I found out that I had
ADPKD when I was 19,
and for a while I thought
I shouldn't have children
as a result. But learning
14 years ago that there
might soon be a treatment for PKD changed
my attitude. Today my
wife, Victoria, and I have
three daughters, ages
10, 8, and 5.
We have not had our
children tested because
there's really nothing we
would do differently if we
knew that they had PKD
versus if we knew they
didn't. It's always a good
idea to eat a healthy diet,
avoid too much salt, and
drink plenty of water.
Plus, depending on the
fragile state of "Obamacare," you might get
denied health insurance.
We don't want to risk

that. I was denied health
insurance because of my
PKD years ago, and I'll
never forget it. And it's
hard to get life insurance
for a person of any age
diagnosed with PKD.
There could also be
emotional consequences.
Getting a diagnosis can
be traumatizing. It could
be difficult for a child
to process. It was hard
for me to process, and I
was 19.
To my wife and me,
there are no upsides to
testing a child unless
the child is having symptoms. If one of our kids
showed symptoms of
some kind, we would
be in a bigger hurry to
test her, particularly
as treatments are now
being tested in children.
But absent symptoms,
we don't see a reason to
do it at this time. For us,
the downsides outweigh
the upsides.

P K D C U R E .O R G

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

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