REPORTER Q&A:
AN INTERVIEW WITH JOYCE GRAFF,
EXECUTIVE DIRECTOR OF VHL FAMILY ALLIANCE
Q: What is VHL?
A: Von Hippel-Lindau (VHL) is a genetic condition involving the abnormal
growth of blood vessels in some parts of the body which are particularly
rich in blood vessels. It is caused by a flaw in one gene, the VHL gene,
on the short arm of chromosome 3, which regulates cell growth. The disease
can be different in every patient. Even in the same family, people may
show only one, or several of the symptoms of VHL. Since it is impossible
to predict which one or more symptoms of VHL each person will have, it
is important to check for all the possibilities.
Q: I’ve never heard of this disease. It must be very rare.
A: Actually, it’s more common than you think. VHL occurs in every
ethnic group, everywhere in the world. Over all, about one person in 32,000
in the world has VHL. It occurs about as often as Muscular Dystrophy.
VHL has no barriers: It occurs in every nation, every race, every language
group around the world, but even though it is a disease that affects people
worldwide, so far most people have never heard of it. About 20% are new
mutations, and 80% are children of parents who themselves have VHL. Most
people with VHL will begin having clinically significant issues in their
teens or twenties. About 10% of children have eye or adrenal problems
before age 10, and we are finding a growing number of people in their
80's who have VHL but who have never had any clinically significant problems.
There is a very great variability in how it can look.
Q. What’s your campaign “Early Detection Empowers Us”
all about?
A. This May, VHL Family Alliance, utilizing the collective power of our
27 state chapters and 14 international affiliates has launched “Early
Detection Empowers Us” our international awareness campaign advocating
the early detection of VHL tumors. A correct and early diagnosis has made
an enormous difference in the lives of people with VHL. In some cases,
early detection has saved a patient from having major organs removed unnecessarily.
In other cases, it’s made the difference between life and death.
But it's only an early warning system. The yellow light is flashing. But
that only helps if you take action.
If someone has a family history of VHL, it is important to begin screening
early, before any symptoms occur. It is generally recommended to begin
regular screening in infancy, adding a few items to the regular pediatric
checkups.
Most people don't know what risk factors they carry. A diagnosis of VHL
alerts you to particular risk factors. It empowers us to do everything
we can to manage those risks. Instead of having some risk sneak up on
us, we have a chance to take action to keep our health.
Q. Why did you start VHL Family Alliance?
A: My husband passed away from VHL in 1977, before there was much medical
imaging. You couldn't see it coming, it was always a devastating surprise.
Nine years later, my son was diagnosed with VHL. I had never met anyone
other than my husband with VHL. I went to the Harvard Medical School library
and started learning all over again about VHL, plowing through dusty old
tomes searching out scraps of information about this syndrome. I realized
that I was doing what a doctor would have to do to find out about VHL,
and the reality is that no doctor would have the time to do it. I realized
that I had to be the research assistant for our doctors. More
about Graff's personal story
After nearly 30 years of living with VHL alone, I met another family
with VHL in 1992. Out of that conversation came a determination to get
all the families together. We were convinced -- in that one-hour conversation
-- that the power of the learning that we could amass together would change
VHL forever. And it has. We learn from each other, every day.
In addition to the physical discomforts and limitations, there is the
added burden of dealing with most people's unfamiliarity with your illness.
Over 5,000 rare diseases collectively affect 20 million Americans. Yet,
most patients remain misdiagnosed or undiagnosed for a long period of
time -- even once symptoms occur, it can take six or more years to get
a clear diagnosis.
We at the VHL Family Alliance are here to share information, to help
individuals learn to maintain their own health, to manage the stress of
living with a lifetime concern, and with chronic illness in themselves
or in their family. We are here to support one another through whatever
comes, and to keep our spirits strong. Until there is a cure, our support
for those affected by VHL and our efforts to promote early detection of
this disease will continue -- - just knowing what we are facing is saving
lives.
Q. How do people get VHL?
A: Von Hippel-Lindau is a genetically transmitted condition. It is caused
by a dominant gene. Even in people who have this gene, however, there
is a wide variation in the age at onset of the disease, the organ system
in which the problem occurs, or the severity of the involvement. Every
person is different.
Q: If that’s true, then does that mean that some cancerous tumors
are actually VHL tumors?
A: The VHL gene plays a role not only in the formation of tumors in people
who inherit a flaw in the VHL gene, but also in 85% of the kidney cancers
in the general population as well. That cancer, called sporadic (non-familial)
clear cell carcinoma, accounts for about 23,500 newly diagnosed cases
of kidney cancer each year in the U.S. alone ((source: Nature Genetics)
There are a number of other tumors -- cancers and not -- that might be
undiagnosed cases of VHL. For example, tumors of the sympathetic nervous
system -- adrenals, carotid body, etc. -- are very rare in the general
population, but quite common in syndromes like VHL or MEN2. Anyone with
a pheochromocytoma should be checked for VHL.
Q. If VHL is a genetic disease, why would someone with VHL choose to
have a child?
A. Don't forget that since most of the issues in VHL don't occur until
well into one's 20's, for many people the children come before the diagnosis.
But even when VHL is a known risk, many of us have chosen to have children,
and many have chosen not to. Having babies is an intensely personal decision,
even when there are no medical impediments to deal with. In the VHL Family
Alliance, we feel strongly that the choice whether or not to have a child
is up to the couple in question, and that nobody else gets a vote.
Now with all the research going forward about VHL there has been a great
deal of progress. People who have chosen to have children report to us
that they feel more comfortable knowing that should their children develop
VHL, their children have the advantage of the vastly improved diagnostic
and treatment methods that exist today. They are still concerned about
VHL, but are in fact no less concerned about all the other risks that
any couple faces in having a child. There is always a risk of any number
of birth defects -- we never know. But for any of us choosing to become
parents, we feel that the pluses of having children outweigh the negatives.
If we have a child or grandchild with any of life’s problems, we
will address it in a responsible manner and do the best we can.
Q: Is there a cure for VHL? If not, how close is the medical community
to finding a cure for VHL?
A: There still is no cure for VHL. A cure is probably 30 years away,
and will require a great deal of work in genetics and in drug development.
Meanwhile, there are a lot of people dealing with a lot of tumors. We
are working now for better management for VHL. There is no cure for diabetes
either, but there is much better management today than there was in the
1930's. If we had a medication (like insulin) and nutritional guidelines,
we would be much better off. But today we don't have either. We can only
assume that the nutritional guidelines for cancer prevention and for strengthening
the immune system will be helpful, and anything which spurs tumor growth
-- like smoking -- will be bad. With better diagnostic techniques, imaging
scans (CT and MRI) to watch for tumors before they become a serious problem,
and better and better treatments for dealing with tumors, the outlook
for people with VHL is better each year.
Q. It seems, at least from an outsider’s viewpoint that the medical
community is not prioritizing VHL because otherwise we’d hear more
about it. What do you say to them?
Actually the work done in the last ten years on the VHL gene is providing
key insights into how cancer works in general. If you read scientific
articles on cancer genetics and angiogenesis, you will find the VHL protein
right in the middle of it all. There are some 23 new drugs coming out
that work along the pathways that VHL is involved in. The challenge will
be in testing these drugs, individually and in combination, until we find
the best way to treat each individual. But it's not all about drugs, either.
Remember that the greatest progress in improving the outlook for men with
prostate cancer has come not through cures, but rather through early detection.
It's the PSA test more than anything else that has reduced the number
of deaths from prostate cancer.
We are hopeful at the advances being made by researchers, and wary of
the dangers inherent in misuse of genetic information. Many of us have
spoken out at meetings on the ethical, legal, and social implications
of the Human Genome project, looking for a balance in the new laws being
formed, that will protect citizens from violations of their privacy and
their civil rights, but that will not unduly constrain genetic research.
We need those protections from discrimination in insurance and employment,
and we also need the genetic research to move forward. While we need certain
protections, we also need that DNA information to be available to our
health care professionals in order for them to serve us best. For example,
if a person with VHL arrived in an emergency room unconscious, having
information that this person carries the altered VHL gene would potentially
save his or her life. Without that information, it would take a great
deal longer to achieve a diagnosis of what was happening.
Q: What is the estimated lifespan of someone with VHL?
A: We are in a time of transition with VHL. Statistics on life expectancy
are always calculated based on the past. In the case of VHL, we have been
improving life expectancy dramatically over the past 20 years. Untreated,
VHL will certainly shorten your life. But with early diagnosis and appropriate
treatment, most people with VHL will be able to avoid the worst consequences
and life a normal lifespan. Like everyone in the general population, we
are given the years we are given. I remember an interview with Rose Kennedy
where she said that her children were given many gifts -- intelligence,
wit, charisma, wealth, compassion -- but not length of days. All any of
us can do is to make the best of the time we have. But we have clearly
shown that early diagnosis and appropriate treatment are the keys to managing
your health with VHL or any other serious condition.
mystory
| 