When I was diagnosed with VHL 21 years ago, in 1986, the urologist that had taken a biopsy of my epididymis (the coiled tubular feature attached to the testicle) said, “you have VHL, a rare disease I’ve never heard of. Based on a research paper I found, the disease has some serious implications for other issues.” No kidding.

Seven years later, in 1993, he went on to remove my left kidney, as multiple cysts had grown to the size that intervention was recommended to prevent the spread of cancer. By then, VHL was still considered rare, but it was also understood to be a complicated, systemic disease that evidenced itself in numerous organs throughout the body.

Last January, 2007, I underwent surgery on my right kidney for a cyst that had grown to a size where intervention was recommended. This time, I underwent a 6-hour laparoscopic surgery in which the tumor was removed while the remainder of my kidney was spared. My surgery was performed at the National Institutes of Health (NIH), where I have been a participant in two study protocols for the last 6 years. So I am functioning on a partial kidney, I have that large tumor in my pancreas, and I have all those littler hemangioblastomas in my brain and spinal cord. But they are all something to watch, not to worry about.

While the good news for me is that I am still here for my daughter and that I can play soccer again this summer (a lifelong passion), the news of interest to everyone else is that VHL awareness has entered the mainstream. While I was at the NIH, it so happened that President Bush was also there supporting funding for the NIH, promoting a bill before Congress that would prohibit genetic discrimination (see accompanying article), and giving accolades to Dr. Marston Linehan and his colleagues for their groundbreaking genetic work on the hereditary VHL and papillary renal cell carcinoma kidney cancer genes. That VHL was on the presidential agenda, and that a genetic anti-discrimination bill was a potential reality, seemed a long way from my first introduction to the disease two decades ago.

To add to the feeling of altered reality, it also turned out that President Bush wanted to meet with a couple of VHL patients. I was asked if I was willing. “Oh my. Really? What does one talk about with the President,” I pondered, considering the many national and international issues that ran through my mind. I decided I would focus on my support for those at the NIH working on VHL and other diseases. And after it finally happened, I found I had spent almost 10 minutes chatting with the President as we sat on my hospital bed. Chatting. About VHL. Not so rare any more, it seems. Oh, and at the end, when the President was commenting about the odd weather in Texas, I reminded him that climate change might be a consideration.

During his State of the Union address to the nation just a few days later, he brought up the important issue of climate change. I was almost sure that he was going to mention VHL too.

Dr. Linehan with President Bush

On January 17, 2007, the President visited NIH. He visited only one cancer laboratory, that of Dr. W. Marston Linehan, Chief of Urologic Oncology at the National Cancer Institute, and head for 25 years of one of the largest VHL research projects in the world. Dr. Linehan told him about VHL, about the genetics of cancer, about the VHL families, their many manifestations, about finding the gene and targeting the gene with new therapies.

When this picture was taken, the President of the United States was looking at a slide of a kidney cancer from a VHL patient. The President was very interested in Dr. Linehan’s efforts to target the gene. He then spent about 20 minutes with two VHL patients in the clinical center, one of whom was Dale.

Afterward he participated in had a round-table discussion on cancer prevention, where he came out strongly in favor of the Genetic Information Nondiscrimination Act.

As printed in the VHL Family Forum 15:2, May 2007. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.

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