Cancer Research Fund/VHL Family Alliance

The VHL gene is critical to tumor progression in many cancers, especially kidney cancer. We fund VHL research and improve the diagnosis, treatment and quality of life for people affected by VHL.

Why do we exist?

VHL Family Alliance was founded in 1993 by three families and has grown to serve over 15,000 people with von Hippel-Lindau disease (VHL) in 102 countries. It is the only national and international organization that individuals and families affected by VHL can turn to for practical information on how to get medical assistance and emotional support and manage their health. We also provide information to health care professionals so that they can make informed decisions on how best to treat individuals with the disease.

VHL is a genetic disorder that affects one person in 32,000 thousand in the world. It is caused by the mutated VHL gene. These mutations lead to abnormal blood vessel growth and the development of tumors in multiple organs in the body. The condition has no one primary symptom. Thus diagnosis is challenging. With a diagnosis, regular screening decreases the likelihood of disability and death.

For example, one family north of Boston was finally diagnosed with VHL after nearly 50 years of VHL issues. While they knew they were dealing with two kinds of tumors, the doctors had not realized they were dealing with one syndrome that explained both. Understanding that there is a syndrome at work, they are better able to protect themselves and manage their health.

What have you accomplished?

Lois, one of our hotline volunteers who is deaf in one ear noticed that she was speaking with a large number of people with hearing issues.  We had always been told that hearing issues were not related to VHL, but were common in the general population.  We raised the question again with three of the world's leading research teams on VHL, and they repeated that they knew of no connection.  Within six months, however, a researcher from the U.S. National Institutes of Health began calling all their VHL patients to inquire about hearing issues.  Two years later NIH published a paper on a newly-discovered tumor in VHL that can cause hearing loss.  The sudden profound deafness that Lois experienced in her one ear at the age of 19 was finally diagnosed as due to a VHL tumor of the endolymphatic sac, a part of the middle ear.  In fact she had one also on the second ear, which was successfully removed, preserving the hearing.

Joe called us on a Friday to say that he was scheduled to have both kidneys removed the following Tuesday, and beginning life on dialysis.  Could he donate his kidneys for research?  We talked with him at great length and proposed that we connect him with some experts in VHL in the kidney, to see if perhaps there were a less radical way of dealing with his kidney tumors.  He sent his records via overnight mail, and the doctors conferred on Monday.  His surgery was cancelled, and a different operation was performed, removing the tumors and preserving his kidney function.  Ten years later he is still on his own kidney power, still at work.  By pooling the experiences of Joe and many others, we have worked out with the doctors a proactive program of screening and preventive maintenance that is helping most people stay on their own kidney power throughout their life.

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