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Bethesda meeting!
Abstracts from 1997 BethesdaOne hundred twenty-five family members and thirty-five physicians and health care professionals gathered in Bethesda, Maryland, for the Fourth Annual International Patient/Provider Conference on von Hippel-Lindau Disease, May 2-4, 1997. This was our largest meeting to date, and as ever contained a rich treasure of information about VHL. Audio recordings of the sessions and sets of handouts are available for purchase on page 15.
On Friday preceding the conference, Dr. Edward Oldfield directed a Focus Conference on the use of stereotactic radiosurgery for hemangioblastomas in VHL. Dr. Oldfield’s report appears separately.
Saturday morning we were greeted by Dr. Francis Collins, Director of the National Institute for Human Genome Research, the newest of the National Institutes of Health. The human genome research effort has been elevated to its own Institute, demonstrating the importance of this work to the nation’s health care in the next decades.
Dr. Marston Linehan outlined the scope and purpose of the VHL research being conducted at the National Cancer Institute. Some 30 people from a number of different disciplines are involved in VHL research in an effort not only to cure VHL, but also to cure kidney cancer in the general population, and to learn tactics to use against other cancers as well. Dr. Berton Zbar shows us some of the work he is doing on two other forms of inherited kidney cancer, and Dr. Othon Iliopoulos from the Dana Farber Cancer Research Institute in Boston outlined the work he and Dr. Kaelin are doing to understand the function of the VHL Protein and its role in regulating cell division and growth. (See Boston meeting report).
Dr. Catherine Stolle from the genetics testing service at the University of Pennsylvania described the process of molecular diagnosis of VHL and the steps to take to obtain DNA testing for VHL. Dr. James G. Herman of the Johns Hopkins Oncology Center showed us that the VHL gene can get "knocked out" or inactivated by other methods than mutation, one of which is a process called "methylation", which may be caused by environmental influences. Many kidney cancer tumors in patients with normal VHL genes have been shown to have this kind of inactive VHL gene function.
Dr. Gladys Glenn, who heads the VHL Clinic at the National Cancer Institute, described the full clinical evaluation which is done at NCI. In working with hundreds of people with VHL over nearly eight years, she has found that a combination of testing, education, and counseling is the best combination for helping people manage their health. She and her colleagues at NCI publish articles and provide backup services for local physicians throughout the United States. Dr. Peter Choyke, chief radiologist for the Clinic, shared some of the imaging studies of people with VHL, showing some of the distinctions which they have found to be important. By studying a series of people over time, they have come to understand the growth patterns of certain tumors, and how they progress. Over the last 10 years there have been significant changes in the genetics, management, and imaging of VHL. The breadth of experience gathered at the NCI clinic and through the efforts of a number of other centers and physicians has clarified the role of the various kinds of imaging techniques for screening and follow-up.
Dr. Fray F. Marshall from Johns Hopkins, Dr. Hartmut Neumann from Freiburg, and Dr. McClellan Walther of NCI presented their work with kidney tumors in VHL. Dr. Walther told us that it is not unusual for people with VHL to develop as many as 30-60 tumors in both kidneys before the age of 30. It is not the number of tumors that matters, but rather their sizes and stages of development. All three agreed that tumors can be watched up to a size of at least 3 cm., delaying intervention until there is one tumor greater than 3 cm. Dr. Neumann’s policy is to wait even longer, since in his experience with patients in Europe, he has not seen a metastasis unless there was at least one tumor 7 cm. diameter or larger. Others feel that this is too risky. Whenever surgery is performed, the goal is to remove as many of the tumors as possible, "resetting the clock" back 5-10 years in the progression of the disease, while preserving as much functioning kidney as possible. While kidney transplant is an option, there was agreement that the primary objective should be to keep the patient’s own kidney functioning. Dr. Walther said that he had removed as many as 100 tumors and still left functioning kidney.
Dr. Neumann, Dr. Walther, and Dr. Douglas Ball of Johns Hopkins shared their experiences with pheochromocytomas, with discussion of the uses of laparoscopic surgery. This new technique is still being piloted, but seems appropriate for some kinds of larger pheos, especially when the entire adrenal gland is being removed. Dr. Neumann does not operate on asymptomatic pheos unless they are in women who want to become pregnant. He uses organ sparing surgery as much as possible because of the tendency of another tumor to develop on the other side.
Dr. Steven Libutti shared his research on pancreatic tumors of VHL and their management. In his reviews of the pancreatic manifestations shown in the people studied at NCI, he has found that the most common pancreatic tumors follow the general guidelines for kidney tumors. Tumors of the islet cell portion of the pancreas, however, need to be watched carefully as they can grow rapidly and can metastasize. Islet cell tumors should usually be removed soon after diagnosis.
The most popular portion of the weekend’s program was the segment on VHL and Children. Kelly Hill of Kids Konnected described the program which Jon Holtz and several other children designed to support kids whose parents have cancer. Julie Rutberg and Don Hadley, genetic counselors, described the work they do with families affected by genetic conditions like VHL, helping parents decide whether or when to test children for VHL, helping parents with strategies for telling their children about VHL, and helping families find counseling and assistance in dealing with the issues that arise in dealing with the physical and mental strains of a chronic illness, or simply the threat of an illness like VHL.
On Sunday there were break-out sessions for the seven children from 8 to 16 who were in attendance; and a separate session for adults. Each group dealt with their own special interests, with a trained facilitator present. Feedback from these groups was very positive -- with requests to do it again!
Our Sunday morning meditation was particular poignant this year since three families had recently lost loved ones -- Craig Warnick, Tom Werner, and Catherine Ann Redding. Death is a part of life, whether VHL is with us or not. Catherine Ann did not have VHL, but died suddenly of a stroke at the age of 28. Susan Warnick, speaking for Craig, shared another of the Craig Warnick theme songs: Never Surrender. June Peters shared her study of meditation, and led the group through a guided relaxation exercise which was calming and centered us for the rest of the day.
Dr. Oldfield reported the results of the Focus Conference on Stereotactic Radiosurgery (SR). This technique is attractive because there is no surgery to recover from. But, as Dr. Prasad from the University of Virginia said, it cannot be considered "non-invasive." It is a surgical technique, and it can cause damage, just as open surgery can. We need guidelines for which tumors are and are not approachable because of their size, location, etc. There are areas of the brain, like the optic chiasm, where SR is not the right technique. If a tumor is close to the surface of the brain, is very approachable with open surgery, and the risk of injury to healthy brain tissue is relatively low, then open surgery is still a good option. However, for tumors deep within the brain, which might otherwise be considered "inoperable," SR can be the perfect answer. There was agreement that the optimal tumor for SR is 10-12 mm. or smaller and where there is no cyst creating pressure inside the skull. Dr. Adler said it is also best to have a "patient patient," one who is willing to wait as long as two years for the results to be apparent. Dr. Nauta is finding good results from spacing out the treatment, to decrease the swelling effect. He used an analogy with exposure to sunlight -- comparing the effect to the difference between spending two hours on the beach in Miami on the first day of your winter vacation, versus spending 10 minutes in the sun twice a day for the week.
Dr. Hurko and Dr. Nauta shared their thoughts on the optimal methods for long-term follow-up, balancing caution with the financial realities of HMO and insurance coverage. Drs. Oldfield, Choo, and Pikus shared their findings from the ELST study they have recently completed (see cover article).
Dr. Robert Welch presented a history of VHL in the retina, and his own patients with VHL over his career, with a series of fascinating drawings of retinas which he and others had made of their patients before retinal photography was in widespread use. Dr. Emily Chew shared her observations from working with hundreds of people with VHL in the NCI VHL Clinic. Small lesions are easy to treat successfully while large lesions are notoriously difficult to treat. If the tumor is located on the optic nerve, treatment is particularly difficult. Fortunately, tumors on the optic nerve may remain asymptomatic for long periods of time. For people at risk for developing VHL, she recommends a dilated eye examination at least once a year. Good vision can be maintained in many affected people, especially if the lesions are detected and treated early.
Joan Weiss, founding director of the Alliance of Genetic Support Groups (AGSG), shared the research which she and others recently published (Science, 274:621, October 1996), studying the perceptions of 332 members of genetic support groups with one or more of 101 different genetic disorders in the family. It was found that as a result of a genetic disorder, 25 percent of the respondents believed they were refused life insurance, 22% believed they were refused health insurance, and 13% believed they were denied or let go from a job. Fear of genetic discrimination resulted in 9% of the respondents refusing to be tested for genetic conditions, 18% not revealing genetic information to insurers, and 17% not revealing information to employers. The level of perceived discrimination points to the need for more information to determine the extent and scope of the problem.
Andrew Imparato, esq., of the U.S. Equal Employment Opportunity Commission, described the legislation which can be used to help protect people from employment discrimination, but there are loopholes which are regularly used by employers to pass over people with a variety of health conditions, not all of them genetic, in an effort, they believe, to manage their "investment" in their employees. It is critical that people share their stories, as the Congress does not always believe stories told to them by other government officials -- they are very much moved by stories from their own constituents. Even if families need to remain anonymous, sharing their stories with the VHLFA or with the AGSG or the National Organization for Rare Disorders will help to provide real stories from real people which can be used to emphasize the need for protection.
As ever, it was wonderful to be together. We were all very grateful to the National Institutes of Health and to Johns Hopkins University Hospital for their unstinting support of this meeting. We all appreciated the efforts of the speakers, and of the administration and support staffs. Special thanks to Maggie in Dr. Linehan’s office and Stephanie in Dr. Hurko’s office for their support of us and of the speakers.
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