importantly, for one young woman, users of the site
solved her case.
My goal as a father and as a reluctant scientist
was to arrive at a diagnosis, which in turn might
provide a prognosis and a treatment. Though there
is no certainty I am on the right path, in thinking
Bea’s problem through, I believe I am very close to
crafting, with her doctor, a clinical management
plan. With the tentative understanding that she has
something akin to Marfan and LDS, her biggest risk
must be vascular disease. Thus the most important
dictate is to have her aorta monitored yearly. I am
also lucky because there is now a treatment that
has helped forestall vascular disease in severe
Marfan patients. Bea is on that medicine.
What I Learned
All of us experience medical challenges directly or
indirectly. When we are on the edge, our hope lies
in the fact that medical science is in motion and
constantly revising itself. The theories I was taught
about Marfan syndrome 20 years ago have been
totally eclipsed by ideas that not only seem durable
but also bring with them new hope for patients, in
the form of treatment. This is also true for many
other conditions. My experience confirmed the
value of patient persistence.
I reaffirmed for myself the value of the simple
things. Insisting on the low-tech but thorough physical exam, when more complicated and invasive
tests were being suggested, proved crucial. I never
lost sight that Bea has her limits in what she can
tolerate in the way of finger pokes, needle sticks,
As a father I’m charged with protecting her as
much as I am with helping her. Much of this is
common sense, but that seems easy to lose in
the anxiety of concern and the fog of ignorance.
More importantly I overcame a host of fears. It
might have been easier to capitulate to the experts
and accept their counsel of patience until science
caught up with Bea. I certainly risked the ridicule
of the experts. Scientists tire quickly of blackboard
hypotheses, and though many were generous with
their knowledge, a few with whom I spoke had no
time for my ideas or questions.
But my curiosity could not be quenched; my
skepticism could not be squelched. And the father
in me trumped any shame that I might be wrong or
concern that I was wasting time.
CHROMATOGRAM: The colors of each peak represent the 4 nucleotides (A, G, C, T) of DNA arrayed
linearly in each of the 2 chromosomes. This figure
shows the beginning of a gene sequence, where
there is much ambiguity.
What We Learn
To be a patient or the parent of a patient is to be continually searching. Each of us does what is within our
limits; my work on Bea’s behalf is what any parent
would do. We’ve entered an extraordinary era in which
knowledge is exploding and is better distributed,
where questioning the authorities is more accepted,
and in which the “wisdom of the crowd” is at hand.
But it is vital to remind ourselves that with our
surfeit of knowledge there is still a dearth of understanding. Though historically genetics has been
focused on the rare and unusual, and dominated by
a handful of experts, the new wave of understanding of the human genome cannot happen without
our large-scale participation. Despite some protests
from the academy, each of us has something
very important to contribute to human genomics
research: our DNA and our phenotype. It is perhaps
the most profound experiment humankind will
undertake to understand itself as a species.
More about Bea Rienhoff’s case and others:
» Human Genome Project: genome.gov
Dedicated to the memory of Dr. Victor A. McKusick
Hugh Young Rienhoff Jr. is a physician and entrepreneur
in the San Francisco Bay Area.