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Report from the Boston Conferene, May 1995Lahey-Hitchcock Medical Center Burlington, Massachusetts
"We really enjoyed the weekend and are so pleased to know the Alliance exists. It was so neat to be with other people like me that have VHL."-- Pam. M., Ohio
"First of all, let me congratulate you on the conference! I regret that I was only able to attend the Saturday morning part but I certainly expanded my knowledge about VHL exponentially just during that time. It was also both moving and inspirational to hear the kind of acute and directed questions that came from the audience. It was certainly an illustration of the kind of partnership that can move a field forward very quickly." -- Hilary Worthen, M.D., Cambridge Family Health, Cambridge, Mass.
"Thank you! A million thanks! Had we not been present at the conference we would not have been aware of the connection to VHL of some of my son's problems. I feel the very real presence of God in our lives as he places us in the hands of angels -- the caring doctors and the countless VHL people of courage we met. . . . It was Craig who moved us to tears. Quiet courage. I think that's the one most significant impression I took away with me -- the understanding of what real courage is. I saw it everywhere, expressed as smiles in the face of chronic pain, and grit in the face of overwhelming diagnoses." -- Evelyn S., Florida
"It was a pleasure to see you and to be able to participate in the VHL Second International Conference. My experiences were most rewarding, and I enjoyed the opportunity to meet other members of the VHL Family Alliance. You and your co-workers are to be congratulated on orchestrating a superb conference, which provided opportunities for education and learning, socializing and growth. It was indeed a pleasure to have a small part in your program." -- Jerry Cavallerano, O.D., Ph.D., Joslin Diabetes Center, Boston.
Teamwork in Action in Burlington! by Altheada Johnson, Brooklyn, New York On Friday night VHL patients, family members, friends and medical care providers were introduced and reacquainted with one another. On Saturday and Sunday we got down to the business of learning how best to live with VHL, with screening recommendations and the most recent treatments. All the medical care providers were very open to questions and discussion, and did their best to provide answers the conference attendees could understand. This was beautifully demonstrated on Saturday when Drs. Novick and Libertino were joined by Drs. Neumann and Linehan in a panel discussion on the treatment of kidney cysts and tumors. Often, explaining VHL can be very technical and controversial. This panel discussion demonstrated the wide range of opinions and medical treatments available to VHL patients.
The Sunday Meditation was very inspiring and thought-provoking. VHL is a serious disease, but we must remember to count our blessings and keep the humor in our lives. A large part of Sunday's session was devoted to DNA, whether to test or not. Here again, we found that there is no one right answer. The answer each individual chooses must be right for them.
Parting really is a sweet sorrow. I know I didn't want to leave. This meeting was the first time many VHL patients had laid their eyes on another person with this disorder. The camaraderie, sharing of stories and friendships, will never be forgotten.
Highlights from the Boston meeting by Joyce Wilcox Graff and Laurel Newson The Town of Burlington declared it VHL Awareness Week. The Lahey Hitchcock Clinic sent out press releases. One hundred twenty-three people gathered from near and far to talk about von Hippel-Lindau disease. Patients and family members came from as far away as Ireland and Hawaii; five genetic counselors from the U.S. and Canada; twenty-four physicians from the U.S., England, Wales, and Germany. Attendees ranged in age from infants to two people with VHL in their sixties. Jim D. from Burlington, a patient of Dr. Aiello for the last thirty-five years, introduced the panel on eye involvement. Betty B., a teacher from Tennessee and a recent transplant recipient, came with her three adult daughters.
On Friday night when we gathered for a reception, it was the first time many of those present had ever met another person with VHL. This was a time to get acquainted, share stories, and make new friends.
On Saturday we heard lectures on clinical aspects of VHL. Dr. Peter Dempsey and Dr. Andrew Mancall from the Lahey Hitchcock Clinic spoke about the anatomy of VHL lesions of the brain and spine, and the latest imaging techniques. Dr. Peter Black of Brighan & Women's Hospital showed an amazing video demonstrating techniques in computer modeling for treatment planning, and the use of shunts to control cysts.
Ms. Hetty DeVroom of the National Institutes of Health shared the current status of their research on endolymphatic sac tumors (ELST), which can cause hearing changes in people with VHL. They estimate that some 10-15% of people with VHL have ELST in the inner ear. They are still working to determine the best treatment for these; meanwhile, no treatment is recommended without consultation with Dr. Edward Oldfield at NIH, as the wrong treatment could damage more hearing than it might save.
Dr. Black and Dr. Haring Nauta of the University of Texas spoke about stereotactic radiosurgery, and what we are learning about the strengths and limitations of this interesting procedure.
Not every patient and not every tumor is a good candidate for stereotactic radiosurgery. While there is no visible cut, nonetheless it is a surgical procedure which essentially cauterizes the hemangioblastoma deep in the brain. The treated tissue swells after surgery, sometimes causing new or increased symptoms for some months which needs to be managed with steroids. The treatment needs to be carefully planned to ensure that the anticipated swelling is sure to be manageable, and to make sure that the patient is not sensitive to the medication, especially since large doses may be needed to manage the swelling.
Dr. Lloyd Aiello and Dr. Jerry Cavallerano from the Joslin Diabetes Center and Dr. Mami Aiello Iwamoto of Brigham & Women's Hospital provided an excellent tutorial on VHL in the retina, and Dr. Aiello shared a preview of the Joslin Vision Network, a computer-based imaging network which will allow Joslin to consult with millions of diabetics -- and potentially VHL patients too -- throughout the United States and Europe.
Dr. John Libertino from the Lahey Hitchcock Clinc spoke about VHL in the adrenal glands, and Dr. Andrew Novick of the Cleveland Clinic shared his research, which is reported in greater detail on page 1 of this issue. There are many possible treatments for VHL in the kidney. The trick is to work out a lifelong treatment plan to keep the patient healthy and on his own kidney power for as long as possible.
After Dr. Novick's talk, Dr. Hartmut Neumann of Freiburg and Dr. Marston Linehan of the U. S. National Cancer Institute began dialoguing with him about his findings, almost as if the rest of us were not in the room. The dialogue developed wonderfully, letting us listen in while four of the world's leading experts on VHL in the kidney discussed the pros and cons, and then took questions from the audience. We continued until Dr. Novick had to run to catch his plane back to Cleveland.
On Sunday, David Torres, Fred Johnson, and Craig Warnick shared with us their thoughts on the importance of their faith in sustaining them through the rough spots in their lives. As one member said, "spiritual support is just as important if not more important than scientific support."
The rest of Sunday's presentation was devoted to genetic research and testing. Dr. Eamonn Maher of Cambridge, England, and Dr. Linehan showed us how they found the gene and the kinds of findings emerging from the mapping of the gene. Dr. Maher and Ms. Jane Green from Memorial University in Newfoundland brought charts showing the improvements in life expectancy brought about by clinical screening, and improvements in quality of life through DNA testing to rule out VHL in relatives at risk. Once a relative has had DNA testing and shown not to have the mutated VHL gene, then one can with confidence discontinue clinical screening in that person, assure them that their children could not be affected, and free them of this complication in their childbearing decisions. Nonetheless not everyone chooses DNA testing for themselves or for a child under 18. "Sometimes, at least for a while, people feel it is better not to know," Dr. Maher said. They prefer to continue clinical screening.
For people in the United States, who are not in a system of universal health care coverage, the decision to obtain DNA testing is further complicated by concerns about insurability. Dr. Philip Reilly of the Shriver Institute and Mr. Richard Saltus of the Marfan Syndrome Foundation related examples from people with other genetic conditions, and spoke about the legal and ethical concerns. There were many questions from the audience.
Ms. Jane Green shared stories from the Newfoundland VHL families which showed the improvements in length and quality of their lives through better clinical and DNA screening. While fifteen years ago the majority of people with VHL died in their thirties and early forties, today most people are living at least 15-20 years longer. The Canadian health care system, like U.S. Health Maintenance Organizations, are eager to spend their money wisely, and do not want to do expensive imaging tests unless they are truly warranted. But clearly, waiting for symptoms is unwise in VHL, particularly in the case of kidney and adrenal tumors. Her research has shown that through DNA testing they are able to rule out VHL in a large number of family members who would previously have been followed with clinical tests annually for thirty years, as a precaution. Not only does this save money for the health care system, it also improves the quality of life for these people, relieving them of the concern about VHL.
With that saving, they are able to afford to follow people who do have the mutated gene more closely. In finding the tumors at an early stage and dealing with them appropriately, they have been able to keep people much healthier for many more years. In fact, it had been thought that two of these families had pheos but no kidney tumors. As their life spans have increased, however, it seems that the kidney tumors develop later on in life, though there are significantly fewer kidney tumors than pheos in these families. In sum, her research shows that the investment in more expensive imaging studies for preventive screening far outweighs the cost of dealing with tumors which are farther progressed and more likely to cause disability.
The families were all thrilled to be together, and were very moved by the whole-hearted involvement of the professionals. One family wrote, "We had the best experts in the world, the most caring physicians in the world. The doctors were wonderful, and we give them credit for their dedication to VHL." The physicians in turn were amazed at the quality of the questions from the families, and at the amount of learning they gained through interacting with the families.
As Gloria P. from Ireland said, "I arrived in Boston feeling very alone and nervous, and I left feeling confident and strong. I have come home feeling able to handle anything. It's the first time since my daughter was diagnosed 6½ years ago that I feel like this. It was good to talk to other people that understand and to hear the doctors being so knowledgeable and interested in VHL."
When Joyce opened the meeting on Saturday, she said that she was confident that the cure for VHL was in the room, and would come as a product of Teamwork among the VHL families and health care professionals. By the end of the meeting, we could all feel the energy that would bring that into being. As Dr. Zbar said, "Dr. Linehan and I returned to NIH invigorated by the meeting -- with renewed enthusiasm for research on von Hippel-Lindau disease."
" How proud you must be to look back, not just at the obvious success of a great conference, but at all the accomplishments made possible because of the VHL Family Alliance. . . . But the real reward lies ahead -- the reward of seeing, if not a cure, significant breakthroughs in the treatment of VHL." -- Bill Dickson, Virginia
"I wish to congratulate you and the other hardworking board members and volunteers on the superb conference in Burlington! I thoroughly enjoyed myself and learned a thing or two on kidney and eye involvement in VHL. The degree of involvement and the quality of information from the health care professionals was truly exceptional. . . . I returned home with increased realization of the magnificent work that can be done by volunteers and the enormous challenge patients with VHL must face each day." -- Hetty L. DeVroom, R.N., B.S.N., CNRN, Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland
"We'd like to thank Joyce and Laurel and all the doctors who participated in the Patient/Provider Conference. Without caring individuals like yourselves, we would be doomed. You've given us hope, guidance, understanding, and most of all love. Thanks again for all you've done for us."-- Cindy & Greg M. and children, Texas
Boston Family Reunion by Peggy and Don M., Corinth, Mississippi The VHL Family Alliance Second International Conference in Boston was the highlight of another year in our Family. We went with great expectations and left with an even greater sense of caring and sharing.
The opportunity to interface with the VHL family of members and medical professionals was heart-warming and informative. As the conference progressed we were able to meet new family members and to establish that sense of warmth and comfort of knowing we are on target, meeting both our personal and the VHL Family Alliance goals.
Several aspects of the conference stand out as we reflect on this past conference. The first conference in Kansas City was the beginning of a learning process for us to be able to take our story public, share our concerns, build our future, and to learn to interface with the medical professionals outside of the examining room. We met many new families for the first time and found that we all share the same feelings. We were impressed with the grace of each family in the face of crisis. Boston begins a new chapter in our Family with an even greater understanding of VHL. We met new families that are now experiencing the joy of knowing they are not alone, but share a common link with many others. We also had the opportunity to meet friends from a year past and share in their joys and tears. We feel privileged to be a part of this family reunion.
Another aspect of the Boston Conference was the chance to communicate with the medical professionals we depend on. They are a large part of our Family and share in our concerns. The presentations were superb in form, content, and presentation. We came away with a renewed vision of the activities taking place to identify and treat VHL. For so many years we floundered in a sea of darkness wondering if someone out there was really concerned about our future and the future of our children. We saw quite emphatically that progress is being made and there is a real concerted effort to control the effects of VHL.
The one aspect that stands out in our minds is the communication that took place during the breaks and intermissions. Families were talking to each other, sharing names, phone numbers, and stories. Every one had the opportunity to discuss their concerns with others and establish that bond that will last a lifetime. We learned we are part of a large caring and sharing family that can support each other through the most trying of times.
We are looking forward to the coming year, and to our next Family Reunion in Hawaii.
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