This article will be about a brave woman
who battles one of those rare afflictions,
a gene mutation with a strange name.
Most of us seldom think about how
devastating some diseases can be.
… until it hits close to home.
The rare Von Hippel-Lindau (VHL)
disease was diagnosed during tests
on Haley Miller when she was 20.
She underwent genetic testing, then
a relatively new science, and was
diagnosed with VHL. She has been
under treatment since then, but possible
changes in healthcare policies might
compromise Haley’s ongoing treatment.
But she is a fighter, and so is her medical
team, and so are various support groups.
She is being monitored by specialists at
the University of Michigan, principally
the noted Endocrinology Team.
According to the VHL Alliance, an
advocacy and educational organization,
VHL is a genetic condition characterized
by tumors in up to 10 areas of the body.
These tumors can be benign (harmless)
or malignant (spreads to other parts of
the body). Most of these tumors are
benign, but VHL tumors in the kidney
and pancreas can grow to a stage where
they become malignant and can spread
to other parts of the body.
While tumors or cysts in the spinal
cord and brain are benign, they can
be serious. As they grow in size, these
tumors can cause an increased pressure
on the body structure around them.
Because it is impossible to predict how
the disease will present or progress,
regular surveillance is extremely
important for people living with VHL.
Those affected by VHL undergo annual
body scans to check for progression and
changes in the disorder.
Haley Miller began those regular
examinations, and much more, including
VHL is a
in up to
of the body.
having family members
tested. “It was around 1999,”
she recalled, “… and the
doctor recommended our
whole family go, so we did.”
Most families don’t just
think of setting up genetic
testing, according to a U-M
profile of Haley, but when her
father was diagnosed and
eventually passed away from
complications of Von Hippel-
Lindau, the Miller family knew it could
“There was a 50-50 chance I would have
it. My father was a twin and both he and
his twin were the first mutations in our
family.” The results came back positive
for VHL for Miller and her sister; but her
brother’s results came back negative.
After hearing the results, Miller arranged
for a scanning protocol.
“The weird thing was we had already
set up the scans, and then about three
weeks before they were scheduled to
take place, I started having symptoms
similar with the disorder. Before that I
had felt fine,” she says. “They decided
to bring me in early and my symptoms
just seemed to get worse.”
The VHL surveillance guidelines were
developed to make sure that VHL tumors
do not cause additional damage to the
body. With careful monitoring, early
detection, and appropriate treatment,
the most harmful consequences of this
gene mutation can be greatly reduced,
or in some cases, completely prevented.
Haley, now a wife and mother of two,
shared with the U-M Healthblog that
she was familiar with the VHL Alliance,
a national organization and resource
for patients and families affected by
VHL… and the organization’s website
included a directory of U.S. clinics
and hospitals specializing
in the disease. She found
the University of Michigan
Health System, which would
later be named one of 10
Comprehensive Clinical Care
Centers in the nation by
the VHL Alliance for having
expertise and experience
in treating VHL, as well as
education and research
around the condition.
She met with Dr. Tobias Else, an
endocrine oncology and cancer genetics
physician at U-M, and each year she
returns for testing and scans to make
sure her condition is kept under control.
“We see VHL patients at least
once a year to ensure everything is
going smoothly,” Else says. “As a
Comprehensive Clinical Care Center
for VHL, we work very closely with an
excellent network of experts at U-M
covering all potentially affected body
parts. For example, if we find a tumor
in a patient’s brain during his/her scans,
we send the patient to an excellent
neurosurgeon for further treatment.”
Haley mentioned that she sees many
specialists and her protocol is to
watch and monitor her body. This was
especially important when she and her
husband decided to expand their family.
“I worked with the doctors and
specialists while I was pregnant both
times, including having extra testing, to
make sure everything was progressing
normally for me and my babies,” Miller
told the Healthblog. “And once each of
my daughters was born, I worked with
the genetics clinic to also have them
tested. My oldest daughter is fine, but
my youngest daughter has acquired
the condition, too. She will come with
me to the genetics clinic every year for