2nd International Symposium, Hawaii 1996 Abstracts, Monday (100's)
[Intro] Aloha Hsia YE, Chairman of the Conference. Genetics Department, Kapi'olani Medical Center for Women & Children, Honolulu, Hawai'i.
My name in Chinese means Summer [Hsia] Rain Man [Yujen], which is a quotation from Confucius about the welcome Spring Breeze and the refreshing Summer Rain.
Aloha. Everybody knows this is a word of greeting and welcome, an expression of love and affection, similar to the Hebrew Shalom. Another useful Hawai'ian word is Mahalo, an expression of appreciation that means thank you.
In Hawai'ian, our Symposium motto means Halawai'i (a Gathering), about a Ma'i 'A 'ai (an Eroding Sickness). This gathering is for all members of our 'Ohana (our Family). Therefore our motto means much more than simply our theme in English for this conference, Cancer in Families.
The VHL Family Alliance has held many Regional, National, and International Conferences, which were initiated by concerned families, to which doctors and scientists were invited to share their knowledge. The First International VHL Symposium was held by doctors and scientists, to which family members were welcomed to learn and to share their concerns. This Second International VHL Symposium, however, is jointley sponsored by doctors and scientists together with the Family Alliance, as one large but closely related 'Ohana, where we are all members of the same family, we are all hosts, no one is a guest. This Symposium is co-sponsored by the VHL Family Alliance, the Hawai'ian Family, and the Federally funded Pacific Southwest Regional Genetic Network, one of the Genetic Networks covering all fifty states.
In the handout materials I have deliberately omitted degrees and titles, because we are all one 'Ohana. I trust no one will be offended.
Preparation of the handout book as well as hundreds of other tasks would not have been possible without the indefatiguable, wise and enthusiastic assistance of Janet Brumblay. The other Committee members are listed as shown.
In case you have not already realized it, dress will be very informal.
Aloha for coming to become a member of our 'Ohana, and Mahalo for all of you, without whom we could not make this Symposium the success it promises to be.
[101]History of VHL. Lamiell JM. AMedEDD Center & School, Fort Sam Houston, Texas
The history of von Hippel-Lindau disease will be traced from the first probable case in 1864 to our present know-ledge about it in 1996. Contributors to momentous advances in VHL, and the important events themselves, will be described. Medical events and developments of critical significance for all familial cancers, and of VHL, will be placed in the context of major world events.
Three 50-year eras in VHL history and thir historical pattterns will be outlined. Some generalizations derived from these patterns will be used to predict possible future knowledge about VHL by 2029.
[102] VHL: Progress, Problems and Prospects Neumann HPH. Dept Nephrology, Albert-Ludwigs-U., Freiburg Germany
Since the first International VHL Symposium, in Freiburg, May 1994, considerable progress has occurred in both scientific knowledge and family care for von Hippel Lindau disease [VHL].
In approximately 70% of all VHL families, a germline mutation is now detectable. This means physicians have a far better foundation for management of family members at risk, while costly and time consuming clinical evaluations can be restricted to confirmed gene heterozygotes. Patients at risk can be offered direct mutation analysis, which has become a routine procedure in most of North America, Europe, and Japan. The major goal for the future must be identification of germline mutations in remaining families. This undertaking may need international collaboration.
With a changed situation produced by availability of mutation testing, genetic counseling can be offered to families about risks for developing the different VHL tumors. Risk for kidney cancer in a large proportion of families, and for pheochromocytoma in another large proportion, is well known; only a small number of families seem to have risk for both. Preliminary studies have begun to correlate specific phenotypes with specific germline mutations. Precise data are desperately needed for very large numbers of affected and asymptomatic heterozygotes for each known VHL gene mutation.
Our center in Freiburg has only limited experience with problems related to insurance and employment. Mutation-specific data may provide valuable risk predictions for each patient. More knowledge is also needed.about non-medical problems faced by heterozygotes.
Most specialists looking after VHL patients adopt a number of standard treatment protocols, but discussion and sharing of experiences is desired especially for asymp-tomatic spinal hemangioblastoma and small renal tumors. New treatment strategies need to be discussed, including proton radiation of retinal angiomas and laparoscopy for pheochromocytomas. Family members may seek "alternative" treatments, for which the opinion of specialists may be requested.
At least some specialists have found that many patients with VHL failed to comply with advice about regular check-ups. Information should be collected about the consequences of this non-compliance.
Major interest focuses on a number of scientific topics:
The discovery that the VHL protein interacts with the elongin complex has brought insights into the function of the VHL gene. This promises to be a window for better understanding of pathogenesis for the various tumors seen in VHL. An unsolved question is how the "second hit" arises in the pathogenesis of inherited, or sporadic VHL-associated tumors.
Finally, specific questions can only be addressed with more cooperation among researchers and with affected family members. One question is the effect of immuno-supressant drugs on de novo tumor development, or the natural history of tiny asymptomatic lesions. Special interest should be paid to the few patients who have had bilateral nephrectomies and have received, or are awaiting renal transplant.
[103] VHL: Consumer Concerns, Needs, and Hopes.Graff JW. Chair, VHL Family Alliance.
As chairperson of the VHL Family Alliance since 1993, and editor of the VHL Family Forum, I have spoken and corresponded with physicians and families affected by von Hippel-Lindau disease from France, Hungary, and Israel, to Australia, New Zealand and Singapore. I have shared observations and aspirations from families world-wide toward improving diagnosis, treatment, and quality of life for people with VHL.
The critical first step is reaching the diagnosis of VHL. It is not an easy quest, and we need to make it ever easier for medical professionals to find the information they need to facilitate the diagnostic process. Once we have found the name of the condition, whole new vistas of opportunity arise for managing our health and gaining some modicum of control over our destinies. Instead of living from one unforeseen crisis to the next, we can begin to anticipate problems, choose the right moment to act, and avoid serious complications.
Through this community of survivors, the families are creating a network to access of information for themselves and for the medical community. We seek the partnership of medical teams:
To take our concerns seriously
To respect our experience
To acknowledge our fears and frustrations
To tell us the whole story
To give us the privilege of peer support
To allow us to participate in the hard decisions
An educated consumer is your best customer.
[104] Nursing Assessment in Cancer. Schmidt D. The Queen's Medical Center, Honolulu, Hawai'i .
Cancer strikes approximately 1 out of every 3 people in the world at some point during their lifetime. More than 10% of the total health care budget of the developed world is dedicated to the care of cancer patients. In the United States, apprixiamtely 1,459,150 new cases of cancer will be diagnosed in 1996. Health care practitioners in Hawai'i will identify approxiamtely 4,800 new cases of cancer this year, and nearly 2,000 Hawai'ian residents will die from cancer in 1996.
Since cancer is such a major health problem, assessment of cancer risk is an important component of oncological nursing care. Risk assessment is the process by which the probability of an idividual's development of disease, disability or death is predicted through analysis of individual characteristics known as risk factors. In cancer risk assessment, the variables which either increase or decrease a person's chance of developing cancer are evaluated. Risks can be intrinsic (genetic make-up) or extrinsic (enviironmental carcinogens) to an individual.
In this presentation the concept of risk factors contri-buting to the development of cancer will be discussed. The role of the nurse in the assessment and modification of cancer risk will be examined.
[105] Breast Cancer Screening. Seto-Donlon S. Kapi'olani Medical Center for Women & Children, Honolulu, Hawai'i.
Breast cancer is currently a public health concern, as 186,000 new breast cancers occurred in 1995. Its etiology is heterogeneous, most cancers involve an interaction of our genes with environment. For some, genes play a more active role in cancer susceptibility, for others, environ-mental components may be stronger. An explosion of cancer technology has identified mutations in more than 20 genes that predispose to breast cancer. Cancer risk assess-ment (CRA) attempts to estimate risks for each individual. Pedigree analysis and genetic testing are the major components of CRA.
One-third of individuals with breast cancer will have a positive family history; approximately 10% will show autosomal dominant inheritance of a mutated breast cancer gene. Those who have an inherited genetic predisposition not only have an increased risk fior breast cancer, but may have higher risks for other cancers. CRA will identify these high risk individuals.
By increasing surveillance, participating in prevention trials, and altering treatment options, we look forward to reaching the goal of decreasing morbidity and mortality from breast cancer.
[106] Nursing Management in Cancer. Coggins G. Kapi'olani Medical Center for Women & Children, Honolulu Hawai'i.
This presentation focuses on the time period just after a diagnosis of cancer is made.
Topics include benefits of, and barriers to coordinating care from an interdisciplinary team approach.
Aspects of assessing patient needs and subsequent nursing interventions will be discussed.
Selected References/Selected Reading:
- Dow K: The growing phenomenon of cancer survivorship. J Professional Nursing 1991; 7(1)1:54-61
- Hagopian G: Cognitive strategies used in adapting to a cancer diagnosis. Oncology Nursing Forum 1993; 20(5):759-763
- Link J (in press): Breast Cancer Survival Manual
- Story KT: Developing effective interdisciplinary teams. Cancer Practice 1994; 2(2):160-162
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