The Changing Face of VHL

When we first organized in 1993, before the gene was identified, it was very difficult to get a diagnosis of VHL.  The clinical diagnostic criteria required that you have tumors in two different organ systems, or one tumor type plus a first-degree relative with VHL -- and the good fortune to have a doctor who thought of VHL.  There was no internet, and no automated decision-support tools for doctors.  In most cases, it took more than 20 years to get a diagnosis of VHL. 

Today the community we serve has changed as a result of the progress we have made together.  First and foremost there is DNA testing.  More information about VHL is now readily accessible on the internet: on vhl.org, in our Handbook, and in a wealth of new articles in the medical literature and in internet resources for doctors like UpToDate. 

While the clinical criteria have not changed, doctors who have a patient with an eye lesion or hemangioblastoma or kidney tumor at a younger age have the option now to send that person for DNA testing to determine whether this one tumor might in fact signal VHL.  Families who know they are at 50% risk of passing VHL to a child have the option to test early to determine whether a child carries the VHL alteration.  As a result, children can be started early on the screening program outlined in the Handbook, to watch for issues and keep that child healthy.  There are better treatment options today, raising the likelihood of good outcomes from procedures.

All of these improvements are changing the face of the community we serve.  When someone is diagnosed with VHL, DNA testing throughout that person’s family is able to identify older relatives who do carry the mutation, but who may have been more lightly affected.  Often we find that an older relative might have some kidney tumors that, if left undetected, would soon have become full-blown kidney cancer.  More than one person has said to us, “my child saved my life” by making the VHL diagnosis possible before that crisis occurred.

DNA testing has also allowed us to identify young children who carry the VHL alteration, years before any symptoms.  By following the screening protocol, we are able to observe the early development of tumors as never before, and to work with prevention strategies, to soften the course of the disease.  Through good nutrition, exercise and the avoidance of smoking, and through early care of the eyes, we are working to keep kids healthy with VHL.
This requires the participation of the child.  As we have learned from other diseases, such as juvenile diabetes, children need to become managers of their own health from an early age.  To help us enroll our children into that effort, we have published the VHL Handbook: Kids’ Edition, helping children understand the key role they can play in keeping their bodies and spirits strong and healthy.

There is one other very important and growing contingent of our community -- people who are the first person in their family ever to have VHL.  About 20% of the people we are in touch with are the first in their families ever to have VHL.  Thanks to DNA testing and more easily accessible information about VHL, people are being diagnosed at younger ages with single tumors.  A seven-year-old girl in California and a nine-year-old boy in Boston were first thought to have retinoblastoma, but in the course of the next two months their doctors realized that both of them had VHL, each the first person in the family to have the altered gene. 

There is an important message here.  VHL can happen to anyone.  Things are still happening that cause the VHL gene to change.  Is it in the environment? in the water? in our food supply?  Is it random chance?  Whatever the cause, we need to better understand what causes genetic change, and to find a cure for VHL and for all the many cancer tumors in the general population that follow the same pattern of growth.  VHL is one of the key controllers of cell division and proliferation of new blood vessels that are the hallmarks of all cancer tumors. 

Please help us find a cure for VHL, and a cure for cancer.