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Teamwork for Health in VHLSee also selected photos
The Sixth International Patient/Provider Conference on von Hippel-Lindau was held June 4-6, 1999, in Atlanta, Georgia. One hundred fifty people attended, the largest attendance so far at a VHL conference. Speakers and attendees came from as far away as Canada, England and Germany. U.S. attendees came from the five corners of the U.S. -- Hawaii, California, Washington, Massachusetts, and Florida -- and a total of 30 states.
The meeting was co-sponsored by Emory University School of Medicine Division of Medical Genetics and the VHL Family Alliance. Dr. Louis Elsas Jr., Chief of Genetics, and Eva Logan, VHLFA Georgia Chapter Chairperson, co-chaired the event. The governor of Georgia declared May to be VHL Awareness Month, and the Peachtree State welcomed us with gracious Southern hospitality.
This meeting boasted a number of "firsts". It was our first meeting south of Kansas City. For the first time Emory University awarded Continuing Medical Education credits (CMEs) to attending physicians who registered with Emory's CME department. And our first magician, the Amazin' Grayson, Grayson Smith of Memphis, circulated throughout the crowd performing illusions for small groups.
The meeting began on Friday afternoon with a rousing "Howdy!" from Eva Logan, conference chairperson. Peggy Marshall and Joyce Graff, VHLFA Co-chairs, welcomed everyone, introduced the Board Members, Chapter Chairs, and 800 Line Committee, putting faces to those names and voices from the telephone and the internet. They also set the tone for the meeting. Nearly half the attendees were there for the first time. Even though they were armed with Handbooks and the glossary in the back of the handbook, there would be unfamiliar terms. They were invited to ask during the session, or between sessions to one of the board members. Everyone would have a tender moment when they would need a tissue or a hug. Everyone was encouraged to reach out for support -- just extend a hand -- and to be ready to give it to the person next to them.
Peggy then introduced the VHL Video, "VHL - Quest for a Cure", thanking the many volunteers who participated in bringing it to reality, and dedicating it to Craig Warnick, Linda Turner, and Thea Franzini.
Susan M., Public Relations Director from North Carolina, reported on PR activities for the year, and introduced Jay, whose inspiring Thru-hike along the Appalachian Trail led our fund-raising effort in 1998-99.
Jay P, retired from the US Marine Corps, gave an inspiring half-hour talk about his experience on the Trail, and the lessons he has learned through that experience -- lessons about self-discipline, motivation, and the courage and perseverance to see a difficult task through to completion. People loved him, found him a marvelous speaker and very upbeat, dynamic and inspiring. He spoke from the heart and reinforced the challenge to be the best you can.
Joyce Graff gave a brief report on the clinical care centers, explaining our intention in setting up the program, and soliciting input from everyone on their experiences with the various centers, and their suggestions for strengthening the program.
Dr. Gladys M. Glenn introduced the work of the National Cancer Institute's Clinical Program, and discussed the learning of her team about Clinical Evaluation and Molecular Genetic Diagnosis of VHL. As usual, her talk was very instructive, both for families and for physicians. Barbara Redding of the VHLFA Information hotline led a discussion with Dr. Glenn about this work.
Patricia Foote of California shared some thoughts from her book, How Are You? outlining recommendations for managing your own health. Putting yourself in charge of your health and your health care team is an empowering step.
We adjourned for dinner in the Crown Room at the top of the Sheraton Colony Square Hotel, followed by two very interesting presentations. First was a panel discussion about "Coping with VHL" among Tania Durand of Canada, Kathy B. of Indiana, David Torres of Hawaii, and Andy B. of Indiana. Kathy represented the viewpoint of the spouse, and the other three their own unique perspectives as people with VHL. Don M. chaired the discussion. People found it personal and pertinent.
Following the panel, Gale Lugo, the VHLFA Chapter Chair for Florida, shared her story and experiences with Complementary Therapy, supplementing her good standard medical care with healthy eating and exercise.
Saturday morning we convened early for a panel of experts on Genetic Testing for VHL. Dr. Paul Fernhoff of Emory University did an excellent job of explaining the terminology of genetics, the different kinds of alterations in the VHL gene that can be found, and the process of sequencing the gene to locate the particular alteration in a family. People found it "awesome, fun, and understandable," especially when he used children's pop-beads to depict the series of segments of a gene, their rearrangements and truncations.
Debra Collins, genetic counselor from the University of Kansas Medical Center, discussed the issues surrounding DNA testing. More than a simple blood testing, DNA testing comes with a set of social and emotional issues that take careful consideration and discussion with genetics professionals and among family members. How will you feel if the answer is yes? or no? Will the answer affect family dynamics, insurability? Should you secure health and life insurance before the testing so as to avoid future issues? Do you really want to know if your small child is affected? With a condition like VHL, where testing can help to prevent serious damage, there are sound medical reasons for testing children from about age five. If the family chooses not to test children until they are older teenagers and can participate in the decision, then children must be screened as if they were known to have VHL. Dangerous complications can arise in young children, especially pheochromocytomas and eye lesions. Damage can be avoided with early diagnosis and treatment.
Angela Trepanier expanded on the psychosocial, ethical, and legal issues involved in genetic testing. She answered a series of questions posed by consumers on the VHL hotline. There followed a panel discussion among the three presenters and the audience. This panel discussion got very high marks. This was the best DNA testing presentation we have ever had at a VHL meeting, and the audience was consistently grateful for the careful planning done in conjunction with the VHL hotline team.
The Neurology panel followed. Dr. Edward H. Oldfield, Chief of Surgery at the National Institute for Neurological Disorders and Stroke, gave a talk on Brain and Spinal Hemangioblastomas, outlining the points he weighs in making a decision whether or not to operate. It is rarely a clear-cut decision. Most of the time it is a careful balancing of pros and cons, determining what course of action will produce the best outcome for the patient.
Dr. Daniel Choo of the department of Otolaryngology at Children's Hospital Medical Center in Cincinnati presented highlights of the work he has done at NIH and Cincinnati on the endolymphatic sac tumors of VHL which can cause hearing loss. He explained the screening process they devised to determine the progress of such a tumor, and the approaches he has used to remove the tumor and save the hearing. Left untreated, these tumors lead to progressive hearing loss over time, sometimes sudden hearing loss.
Dr. Dheerendra Prasad of the University of Virginia presented his work with the Gamma Knife machine doing stereotactic radiosurgery on a variety of tumors, including hemangioblastomas. While he was very enthusiastic about the capabilities of this technology, he was also very straightforward in presenting the limitations of the technology as well. Not all tumors are good candidates for stereotactic radiosurgery. It has to be used with caution, in order to avoid secondary complications which can be at least as damaging as open surgery.
Thomas D. Rodenberg, Esq., an attorney from Kansas City, Missouri, shared his experiences in dealing with insurance companies as the family negotiator for a large VHL kindred in Missouri. He presented excellent tactics for dealing with refusals to pay. In short: never give up. If they turn it down, appeal the decision. Insurance companies often turn everything down on the first round, hoping you will give up. Keep going. Tom answered many questions during the discussion period, and we could have kept him going all afternoon, but we had a schedule to keep. Hopefully we will see more from Tom in future meetings and in the VHL Family Forum.
At the Annual Meeting over lunch, Maria Shipton of Pennsylvania was elected to the Board of Directors, and awarded the VHL Chapter Chairperson of the Year for her excellent work in public relations around Jay Platt's hike. Jay Platt was honored as the Volunteer of the Year for his extraordinary effort in hiking the Appalachian Trail. He was given a plaque, and an American Flag that had been flown over the Pennsylvania Statehouse in his honor.
Board Officers were elected by the Board at their meeting on Friday morning and announced at the Annual Meeting. Altheada Johnson continues as Chairman of the Board. Peggy Marshall continues as Chairperson of the Alliance, essentially the chief operating officer of the VHLFA. She will be assisted by Vice Chairpersons Don Marshall and Kathy B., secretary Melissa Minster, and treasurer Kelly Heselton.
When the VHLFA was founded, the Bylaws were written to include a provision that no one person could serve more than two consecutive terms on the Board of Directors. After two consecutive terms you have to take at least one year off and then you can run again. This provision is to keep the organization from becoming too dependent upon any one individual, and to encourage the development of a number of strong leaders. Joyce Graff retired from the Board after two consecutive three-year terms on the Board, as Chairman or Co-chairman. Joyce was honored for her steadfast leadership, and given a plaque naming her Founder Emeritus of the VHL Family Alliance.
In the afternoon, Dr. Emily Chew of the National Eye Institute headed the Ophthalmology panel with a presentation on Ocular Manifestations of VHL Disease - Prevention and Treatment. Dr. Chew has now seen more eyes with VHL than any other single ophthalmologist, and has a unique perspective on treatment. Dr. Hans E. Grossniklaus of Emory University talked about his research in retinal disease, some of which was done in conjunction with Dr. Chew. The goal is always to save vision, and to save the eye.
In some circumstances, however, it is not possible to save the eye. Once the retina is gone, the eye tends to atrophy over some years, eventually becoming painful and requiring removal, or enucleation. Robert A. Thomas, an ocularist from Memphis, Tennessee, presented a series of photographs showing artificial eyes and facial and eye restorations, showing that people can look completely natural with a well-made ocular prosthesis. He explained the process, the decisions that need to be made before the eye is removed, and the work done by the ocularist after the eye socket has healed, similar in many ways to making dentures.
The Urology panel was headed by Dr. Hartmut Neumann from Albert-Ludwigs University Hospital in Freiburg, Germany. Dr. Neumann's study is the largest and longest study in Europe. He has published widely in more than six languages, and was the first to propose delaying operation on the kidney. He was followed by Dr. Walter Rayford of Louisiana State University in New Orleans. These two physicians described their work -- Dr. Neumann's in Germany and Dr. Rayford's at the NIH -- and the issues they weigh in deciding when to operate on a kidney and how long one can watch the tumor without actually taking action. The goal in all cases is to maintain normal organ function while avoiding metastatic cancer.
Dr. Berton Zbar shared his current work on inherited cancers of the kidney. While he began this work by studying VHL, he is now working on other familial forms of kidney cancer, learning additional ways that kidney cancer can develop. It is through learning about all the inherited predisposition factors that we will truly come to understand this complex disease. The audience had many questions for these three fine presenters.
Sunday morning we heard from two very find speakers, Karen ____ of the Methodist mission in Atlanta, and Pastor David Torres of Hanapepe Baptist Church in Kauai, Hawaii. David is a member of the Board and chairs the Dialysis and Transplant committee. Their presentations were warm and inspirational, showing that spirituality is an important aspect of coping with disease.
Dr. Steven K. Libutti of the National Institutes of Health headed the Endocrinology panel with a talk on Pancreatic Lesions in VHL. The pancreatic lesions have been poorly understood, leading some physicians to overtreat and others to undertreat. Dr. Libutti showed that there are no tumors in VHL that produce chemical tracers that can be seen in the urine. That would be too easy. Instead, we have to rely on imaging and on knowledge derived from studying many pancreatic tumors over the years to determine which tumors can be watched, and which ones require immediate removal. Over the years at the NIH they have come to apply the 3-centimeter rule from kidney tumors also to most tumors in the pancreas. If the tumor is in the head of the pancreas, they watch tumors only to a size of 2 cm. and then remove them. If they are symptomatic or if they are growing at a particularly fast rate then they move more quickly to remove the tumors. Cysts do not require removal, but many large cysts cn cause discomfort which sometimes requires drainage.
Dr. McClellan Walther, a "son of the South" from Atlanta, Cheif of the Neurodynamics Laboratory at the National Institutes of Health, spoke about Pheochromocytomas in VHL. Pheos can grow anywhere along a line from the base of the skull to the bladder, along the sympathetic nervous system. Very few (1.6%) metastasize in VHL, but all pheos can be dangerous because of their effect on the cardiovascular system. They have developed a new test of "free metanephrines" which is reported in a new article, now in press. It is a biochemical test which is much more sensitive and reliable, and easier to administer than a 24-hour urine collection. 75% of the pheo patients in his series had missense mutations, and all those with extra-adrenal pheochromocytomas (pheos occurring outside the adrenal glands) had missense mutations.
Dr. Nutzet O. Atuk, Emeritus professor from the University of Virginia, described his work studying a large kindred over the course of 30 years. Altogether he studied 97 cases of VHL in 4 generations in this one family, and followed closely 64 patients. Pheochromocytomas occur frequently in this family, and renal cell carcinoma is rare. Our three speakers answered many important questions from the audience.
The last segment of the day was on Research: Hope for the Future. We brought five research scientists to report to the group, three of whom have received funding from the VHL Family Alliance to support their work. The biochemical study of the VHL gene and the VHL protein have become so highly technical that it is sometimes hard for anyone who is not a research geneticist to understand what they are saying. Even with all the preparation we had given the presenters, some were better than others in speaking to a lay audience. We succeeded in getting the DNA testing presentation to the right level this year, so we will have to work on getting the research presentation to the right level for another year. This session was unfortunately difficult even for physicians to follow.
It was explained that the VHL gene functions as a tumor suppressor gene. The VHL gene is a recipe for the VHL protein (pVHL). When the normal VHL protein is present in the cell, cell division starts and stops as designed and all goes well. When the VHL protein is missing, cell growth can go out of control. We do not yet understand all the mechanisms that go on, but these researchers and others have identified a number of associations or bindings that pVHL makes. When pVHL is missing, those associations are not made and a number of normal processes don't work. One result is the over-production of Vascular Endothelial Growth Factor (VEGF), which is implicated in the growth of new blood vessels, resulting in a hemangioma in VHL, or in blood supply to a number of other kinds of tumors in other conditions.The key take-away messages were that there is progress in understanding the function of the normal VHL protein in the cell. Once we understand what it is doing, it is easier to talk about ways to restore normal function. For example, let's say that your car doesn't work, and the only tool you have available to fix it is a paper clip. Can you fix the car? The answer is "maybe," but it will take a lot of understanding of what is wrong with the car, amd how a car works, in order to know where to stick the paper clip and how to bend it so that it will fit into the right place and fix the problem. Dr. Humphrey talked about a drug going into clinical trials soon, and Dr. Iliopoulos and Dr. William Kaelin in Boston are beginning trials of two anti-angiogenic drugs, one from Novartis and one from Sugen, testing them specifically for their effectiveness in treating VHL. How soon will a drug come to market? Probably another four years. But trials are now under way, which is much closer than we have ever been before. There is hope on the horizon for drugs to emulate the function of VHL, go around the VHL function and control the levels of VEGF directly, and to perform gene therapy on the VHL gene itself.It should be noted that both Dr. Walther and Dr. Gnarra mentioned that there is now clear evidence that kidney tumors grow faster in people who smoke. People with VHL should avoid smoking, both primary and secondary.
Peggy M. and Joyce Graff led the final audience discussion and meeting summary and thanked everyone who attended, the five volunteers who staffed the registration tables in the hallways, and Chris Logan and Andy B. who worked alongside the hotel staff to keep the lights and sound and air conditioning at just the right levels for everyone's comfort. Comments from the audience were quite positive, even with their difficulties with the research segment. "This is the first conference I have attended. It was extremely informative, well run and doctors were extremely generous in answering questions after their speeches." "The conference has given me the opportunity to meet and make new friends who are going through the same problems with VHL." "We were very impressed and grateful for all the information we can take back with us." Best of all, one attendee said, "The VHL Family Alliance made me feel welcomed and loved." "Thank you for all the work you have done to help me feel better about my future."
"Great work, wonderful information, great fellowship."Special thanks to Peggy and Don M. who organized the agenda, to Eva Logan who work with the hotel and made all the local arrangements for us, to Angela Trepanier at Emory University for organizing the badges, handouts, and CME details, to the volunteers who staffed the registration and service tables in the hallway so that the rest of us could attend the meetings, and to Chris Logan and Andy B. for their support of audio, lighitng, and logistics, and to the Amazin' Grayson for his light-hearted interludes of illusion. See also photos |
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