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70
April 26 • 2018
jn
Using our heritage to fi nd a cure
for Parkinson’s disease.
BARBARA ANDERSON, M.D. SPECIAL TO THE JN
A
neurodegenerative disorder
whose cause is unknown,
Parkinson’s disease was first
described in 1817 as “shaking palsy”
by James Parkinson, for whom the
condition is named. The onset of
symptoms — tremors, slowness
and stiffness, walking and balance
issues, and a host of non-movement
symptoms, including depression, con-
stipation and cognitive decline — is
generally slow, and their progression
varies among individuals. Treatment
options, too, vary, and include medica-
tions and surgery.
Although Parkinson’s disease is not
fatal, complications of the disease,
according to the Centers for Disease
Control and Prevention, are the
14th cause of death in the U.S.
April is Parkinson’s Awareness
Month, and in honor of the 1 million
people living with Parkinson’s disease
in the United States, I want to share
my story.
You may know that Ashkenazi Jews
can trace their ancestry to just 350
individuals. This heritage has created
genetic similarities so acute that,
according to scientists, “everyone is a
30th cousin.”
With gene mutations passed from
generation to generation, Ashkenazi
Jews are more likely to carry genetic
variants that increase risk of certain
conditions, including Parkinson’s dis-
ease. This unique ancestry presents
a treasure trove of data for genetic
researchers and a powerful oppor-
tunity to improve the kind of disease
mapping that can speed cures.
I don’t have Parkinson’s myself
but am a daughter, daughter-in-law
and sister to individuals diagnosed
with the disease — and I know too
well the difficulty and frustration
that Parkinson’s causes millions of
people and their loved ones, especially
because the disease has no cure.
Given my family history and
Ashkenazi Jewish descent, I wanted
to know my genetic status. Because
of genetic counseling and testing,
I learned I carry mutations in both
my LRRK2 and GBA1 genes, each of
which is associated with increased
risk for Parkinson’s. My husband,
Jay, also carries a mutation in
the GBA1 gene. So, we set out to do
everything in our power to learn more
about Parkinson’s and test therapies
to stop its progression.
Together, we enrolled in the
Parkinson’s Progression Markers
Initiative (PPMI), a study sponsored
by the Michael J. Fox Foundation, to
share our data and biosamples (blood
and spinal fluid) to help scientists
learn more about this disease and,
most important, speed research that
may lead to cures.
Jay and I support the study by par-
ticipating in imaging tests and clinical
exams, and by contributing biosam-
ples annually. We’ve made this com-
mitment because we know the only
way we’re going to fight this disease is
with knowledge, and this kind of data
is our best hope for unlocking the key
to new therapies. If we’re not willing
to volunteer that data, then nothing
is ever going to change. I hope you’ll
join us. •
Barbara Robinson, M.D. is an obstetrician-
gynecologist near Chicago. This story first
appeared on reformjudaism.org.
The PPMI study is seeking people of Ashkenazi Jewish descent who themselves
have either Parkinson’s or Gaucher’s disease (given a GBA1 connection between
the two) or have a first-degree relative who has either disease. The study is
enrolling people with a mutation in the LRRK2 or GBA1 gene and provides free
genetic testing to identify potential participants, as well as genetic counseling.
To learn more about Parkinson’s disease and the PPMI study, visit the Michael J.
Fox Foundation for Parkinson’s Research at www.michaeljfox.org.