When I was a student at Cornell University in 1962 I married a wonderful man by the name of Frank Graff. Frank was a budding historian, a chess champion, and a fine baseball player. He also had a condition known as von Hippel-Lindau syndrome, or VHL, a rare disorder very poorly understood at that time.
Over the next fifteen years, in addition to our five academic degrees, we earned an "advanced degree" in VHL the hard way -- Frank lost his sight, went through five rounds of brain surgery, five rounds of spinal surgery, and two rounds of kidney surgery.
He died in 1977. Nine years later, when our son was diagnosed with VHL,
I went back to the library and started calling researchers to find out
what progress had been made on this rare hereditary cancer syndrome. There
was very little, and it was difficult to find. As I was sitting in the
library one day I realized that I was doing what a doctor would have to
do – poring through journals and textbooks to glean bits and pieces
of information on VHL. The biggest problems for people with rare disease
are: getting a diagnosis, finding helpful information about the condition,
and then finding physicians who can provide optimal care.
My son was 15 and healthy, but the doctors found tumors. They had a meeting, to which I was not invited. They told me to remove both his kidneys and put him on dialysis, to wait for a transplant. "You want to take a healthy 15-year-old boy and put him on dialysis?" I asked. "I don’t think so." They told me I was crazy. I read every article I could find about VHL in the kidney, and I came across a paper by a Germany nephrologist who said he only removed tumors, he did not remove kidneys. I wanted to talk with him, so I brought my son’s films and I came to Germany in 1992.
Dr. Neumann didn’t tell me what to do. Instead, he talked with me about what he knew and what he didn’t know. He told me a theory he had that the size of the tumor might indicate how dangerous the tumor was, and that he was working with a number of patients, leaving tumors in place until they reached a critical size. Using his strategy of watching and waiting and then carefully removing only the tumors, he was keeping his patients healthy, cancer-free, and on their own kidney power throughout their lifetimes.
Do you know what that means to a person? Dialysis and transplant are wonderful advances, and we are glad to have them available. But they are not cures. They are difficult roads in themselves. Keeping your own kidneys means keeping your energy, your ability to work and enjoy life feel good about yourself and earn a living and pay taxes. I means keeping your dignity.
Living with a rare disease is like trying to fight a giant in the dark without knowing what he looks like, what weapons he holds, and where he is going to strike next. What Dr. Neumann has done is to help turn on the lights – provide information on what the disease is, how it behaves, and ultimately how to manage your health. He has led the way in challenging the conventional wisdom about treating tumors, and has helped to create ways that we can constructively treat the person – the whole person. He and his excellent team in Freiburg have created a model program in coordinated care, where all the physicians involved in treating this difficult multi-system disorder confer with one another and treat the whole human being.
The VHL Family Alliance began in 1993 as a way of helping people with VHL to know that they are not alone. By sharing information, sharing conjectures, sharing experiences, we are helping to find more effective treatments and provide clues to the researchers. From the beginning we have sought partners in this work, doctors and researchers who will work in partnership with us, learning with us and from us and sharing their own expertise.
When we held our first meeting in Kansas City in 1994 the first doctor we invited was Dr. Hartmut Neumann from Freiburg. He has been a valued participant in 10 of the 11 meetings we have held since 1994. Why? Because in his frank but inoffensive style he is willing to challenge his colleagues, and re-examine issues, even in front of the patients. He is willing to ask us questions and listen – really listen – to the answers. He is willing to explain, lay out the pros and cons, and involve us in decision-making. He is willing to admit that there are no easy answers, only gambles with different levels of risk.
The VHL Family Alliance has a toll-free telephone number and has been on the internet since 1994. In only a few years we have reached more than 8,000 people with this rare disease in 47 countries. There are now major studies on VHL in Germany, France, and the United States. This global network of families and physicians, and the information it has collected, is truly saving lives.
While there are a great many wonderful people involved worldwide who all deserve mention, I think they would all agree that no one has made as important a contribution to the advancement of clinical treatment of VHL as Dr. Hartmut Neumann. The number of people whose lives he has touched is enormous – through his work at the clinic in Freiburg, though his publications in many languages, his personal presentations, and his outstanding collaboration with the worldwide patient community, he has left his mark on our lives and our hearts.
On behalf of all the worldwide members of the VHL Family Alliance, I say, "Thank you, Dr. Neumann"
