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Newsletter 1996
VHL Family Forum, Volume 4, Number 2 - March 1996
Section 2
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This newsletter is distributed to members of the VHL Family Alliance. It is supported by dues, fundraising, and advertising. We welcome your comments, suggestions, ideas and submissions. Copyrighted works or their modifications must be accompanied by the copyright notice. Opinion(s) expressed by the authors are not necessarily those of VHLFA.
Further information is available from the VHL Family Alliance, info@vhl.org
Hold that Plant !
adapted from an article by Jean McCann, National Institutes of Health
As cancer patients receive more high-dose chemotherapy treatments and undergo bone marrow transplantation in growing numbers, the opportunities for infections are rising. While a number of antibiotics exist for the prevention and treatment of bacterial infections, using them as preventives often creates a hospitable environment for equally deadly fungal infections -- for which few good treatments now exist.
While people with VHL are not treated with chemotherapy, treatment with radiation therapy, can also result in a temporary weakening of the body's immune system which can put them at risk for such infections.
At the recent International Congress of Chemotherapy, held in Montreal, a number of speakers discussed developments that could improve the diagnosis and treatment of these serious fungal infections in people with weakened immune systems.
Françoise Meunier, M.D., Ph.D., director of the Central Office of the European Organization for Research and Treatment of Cancer in Brussels, said that, while deaths from fungal infections that have spread to the bloodstream are more common in hematolotic malignancies (such as leukemia), even in solid tumors, "5% [of cancer patients who die] have evidence of invasive fungal infection at autopsy." She estimated that 300,000 of the 6 million worldwide cancer deaths each year result from fungal infections that have spread to the bloodstream, also known as fungemia. The more aggressive the treatment, the greater the risk. Some 30% of bone marrow transplant patients show evidence of fungal infection. "It is clearly a catastrophe for a patient to enter a hospital for a bone marrow transplant and then have to explain that this patient is going to die because of invasive Aspergillus."
Meunier said that Aspergillus infection is particularly important to prevent by any means necessary, because there are no good treatments. Prevention of Aspergillus infection may mean something as simple as removing plants from a patient's room (the soil can harbor the fungus) or something as drastic as shutting down an entire bone marrow transplant unit as a result of widespread contamination, which Meunier said was done recently as a unit in France where 21 deaths from invasive Aspergillus occurred. Candida fungus is also a threat.
Elias Anaissie, M.D., associate professor of medicine at the University of Texas M. D. Anderson Cancer Center in Houston, has studied strategies for detecting and preventing fungal growth. While there are drugs which can be administered as preventives, they can permit the growth of other dangerous fungi which do not respond to the preventives. For this reason, preventive drugs are generally given only to patients at high risk, such as those undergoing bone marrow transplant, or patients with acute leukemia and other patients who have prolonged neutropenia. Dr. Anaissie and others are working toward earlier diagnosis of fungal infection. In his own practice, he supervises patients with weekly cultures, and gives preventive treatments if any signs of fungi are found.
Taking drugs such as Decadron can mask the symptoms of fungi. Be alert to signs of infection and report to your doctor without delay. But the best defense remains prevention. People who are being treated with immune-weakening treatments such as radiation and transplantation should decline to accept live plants and flowers in their rooms or homes. They can be put on display at the nurses station, or sent home with a friend. You can suggest that people send cards or balloons or silk flowers instead.
condensed from "Deadly Fungal Infections Spreading in Cancer Patients," Journal of the National Cancer Institute, 87:19 (October 4, 1995), pp. 1434-1436.
A Family Affair
by Gay V., Sydney, Australia
My husband Paul was 24 when he was diagnosed with von Hippel-Lindau disease following the discovery of an angioma that virtually blinded his right eye. He was not told that the disease was genetic, or any of the other possible affects. For the next 17 years all was apparently well.
Then in 1990, when Paul was 41, he became very ill. Two cerebellar tumors were picked up by CT scan. They were successfully removed in 1991, but an MRI scan then showed two smaller tumors, one of which eventually developed a cyst. They were removed successfully in 1994.
Meanwhile, 16 members of his family were tested for von Hippel-Lindau disease, including our children Lana and Brent. None showed any signs of the disease.
Paul's monitoring continued, and in early 1994 the two additional tumors were successfully removed. Then in April 1995 a tumor was removed from his spinal cord. Even though only 50% of the tumor could safely be removed, surgeons were successful in cutting off its blood supply, and a subsequent MRI showed that it had dried up. Some small cysts in his kidneys are now being watched.
We were told to have the children's eyes checked every three years. If we had known then what we know now, Lana would not have lost the sight she has. In 1993, when Lana was 12, she was treated for a large angioma which nearly destroyed the vision in her right eye. A smaller one in her left eye was successfully treated. Later the same year Brent, then 14, also had a small angioma successfully treated.
Our family had been feeling very isolated and alone through all of these traumas. Lack of information was the main thing. The doctors who were treating us had never treated this disease before, and did a very good job with little information. Now that there is so much more information available, we feel confident that our medical team is much stronger. It is wonderful to have more information coming on a regular basis. Paul, Lana, and Brent are now regularly monitored by neurologists, ophthalmologists, and urologists as well as their general practitioner. Everyone has had their check-ups and all is fine, so we can put VHL back in the bottom drawer for a while. Paul is feeling well at the moment, which is a pleasure to see.
There are an estimated 600 people with VHL in Australia. Because of Australia's small population, getting information about the disease, let alone finding anyone else who has it, has been impossible until now. Late in 1993 I was listening to the radio during "Gene Awareness Week" and heard a genetic counselor being interviewed. They suggested that interested families with genetic diseases might like to contact Dr. Kathy Tucker at the Prince of Wales Hospital in Ranwick, Sydney. I was feeling pretty stressed and alone at that time. The first thing that Kathy told me was that the gene had been found. She sent me a patient information leaflet prepared by Dr. Eamonn Maher in England. I wrote to him, and he replied, enclosing a copy of the VHL Family Forum! So by going around the world we will at long last have the information we have been looking for so long."
I wrote to the U.S., and Joyce put me in touch with Jennifer K. The two of us have worked together to set up an affiliate of the VHL Family Alliance in Australia. Jennifer and I have become good friends and are in regular contact with each other. It is very exciting when another VHL family makes contact with either of us. Four families called me after an article was published in The Medical Observer, a medical magazine, in August.
Spreading information about von Hippel-Lindau disease is my way of fighting back. The VHL Family Alliance, Australia, will hold three meetings in March in Brisbane, Sydney, and Melbourne, in conjunction with the visits of Dr. Y. Edward Hsia and Joyce Wilcox Graff to Australia and New Zealand. A chapter is being set up in New Zealand as well, which will collaborate closely with us in Australia.
A VHLFA Clinical Care Center is being set up in Melbourne under Dr. Mac Gardner, Genetics Dept., Murdoch Inst, 10th Floor, Royal Childrens Hospital, Flemington Road, Parkville, Melbourne, 3052 Australia. Phone: +61 (03) 9345-5157; Fax: +61 (03) 9348-1391.
DNA testing for VHL is offered by Dr. Jack Goldblatt, Director of Genetics, Princess Margaret Hosp for Children, Roberts Road, Subiaco, 6008 West Australia, Phone: +61 9 340-8222; Fax: +61 9 340-8111; E-mail: tedkins@uniwa.uwa.edu.au.
We hope to meet you in Hawaii!
Our thanks to Raelene Allen and the Medical Observer, Sydney, Australia, for their assistance in the preparation of this article.
Genetic Discrimination and Health Insurance
-- Reporting an article by Kathy L. Hudson and Francis S. Collins, Natl Ctr for Human Genome Research; Karen H. Rothenberg, U. Maryland School of Law; Lori B. Andrews, NIH-DOE Working Group; Mary Jo Ellis Kahn, NAPBC1
The ability to obtain sensitive genetic information about individuals, families, and even populations raises profound and troubling questions about who will have access to this information and how it will be used. With the accelerating pace of gene discovery, we will soon be able to identify quickly a wide range of risk factors, and to find effective preventive and treatment strategies that will lower the personal, social, and perhaps the financial costs of disease in the future. Every human being carries genes that predispose to common illnesses. In many circumstances, as with VHL, knowing this information can be beneficial, as it allows individualized strategies to be designed to reduce the risk of illness.
As knowledge about the genetic basis of common disorders grows, so does the potential for discrimination in health insurance coverage for an ever increasing number of Americans. While health care itself is not in jeopardy for people who live in countries with health care for all citizens, similar concerns frequently arise in obtaining life insurance.
The use of genetic information to exclude high-risk people from health care by denying coverage or charging prohibitive rates will limit or nullify the anticipated benefits of genetic research. In addition to the real and potentially devastating consequences of being denied health insurance, the fear of discrimination has other undesirable effects. People may be unwilling to participate in research and to share information about their genetic status with their health care providers or family members because of concern about misuse of this information. As genetic research progresses, and preventive and treatment strategies are developed, it will be increasingly important that discrimination and the fear of discrimination not be a roadblock to reaping the benefits.
Genetic information has already been used by insurers to discriminate. In the early 1970's, some insurance companies denied coverage and charged higher rates to African Americans who were carriers for the gene for sickle cell anemia. Recent studies have documented cases of genetic discrimination against people who are healthy themselves but who have a gene that predisposes them or their children to a later illness such as Huntington's disease. In a recent survey of people with a known genetic condition in the family, 22% indicated that they had been refused health insurance coverage because of their genetic status, whether they were sick or not.2
Because of the high costs, insurance is essentially required to have access to health care in the United States. Over 40 million people in the United States are uninsured.3 Group insurance, individual insurance, self-insurance, and publicly financed insurance (for example, Medicare and Medicaid) are the principal forms of health insurance in the United States for the ~240 million Americans with coverage. Most people get their health insurance through their employer. For individuals and small groups, insurance providers use medical history as well as individual risk factors, such as smoking, to determine whether to provide coverage and under what terms. This is known as underwriting. Insurers argue that underwriting is essential in a voluntary market to prevent "adverse selection," in which individuals elect not to purchase insurance until they are already ill or anticipate a future need for health care. Insurers fear that individuals will remain uninsured until, for example, they receive a genetic test result indicating a predisposition to some disease such as breast or colon cancer.
While some states have enacted laws to protect individuals from being denied health insurance on the basis of genetic information,4 (See Fig. 1) Insurers can use other phenotypic indicators, patterns of inheritance of genetic characteristic, or even requests for genetic testing as the basis for discrimination. Meaningful protection against genetic discrimination requires that insurers be prohibited from using all information about genes, gene products, or inherited traits to deny or limit health insurance coverage.
Fig. 1. State laws on the use of genetic information in health insurance. States shown in lightest gray were the first states to enact legislation addressing genetic issues in insurance. Florida and Alabama laws prohibit insurers from denying coverage on the basis of the sickle cell trait. North Carolina prohibits insurers from denying coverage because the applicant has the hemoglobin C or sickle cell trait. Maryland prohibits discrimination in rates based on any genetic trait unless there is actuarial justification. California, Oregon, Colorado, Minnesota, Wisconsin, Ohio, Georgia, and New Hampshire prohibit insurers, to varying degrees, from requiring or requesting genetic tests or their results, from denying coverage on the basis of genetic tests, and from using tests to determine rates and benefits. California, Colorado, Oregon, and Wisconsin laws include provisions to protect the privacy of genetic information. Massachusetts and Hawaii have related bills pending.
No federal laws are currently in place to prohibit genetic discrimination in health insurance.5 It is not clear if the current health insurance reform proposals would prohibit insurers from denying coverage on the basis of genetic information. If enacted, current health reform proposals would prohibit denying insurance to those currently suffering from disease or with a past history of disease. But these proposals may not protect people who are healthy but have a genetic predisposition to disease.
Planners of the Human Genome Project recognized from the beginning that maximizing the medical benefits of genome research would require a social environment in which health care consumers were protected from discrimination and stigmatization based on their genetic make-up. Genome programs at both the DOE and the National Center for Human Genome Research, a component of the National Institutes of Health (NIH), have each set aside a portion of their research budget to anticipate, analyze, and address the Ethical, Legal, and Social Implications (ELSI) of new advances in human genetics. The original planners also created the NIH-DOE ELSI Working Group, which has a broad and diverse membership including genome scientists; medical geneticists; experts in law, ethics, and philosophy; and consumers, to explore and propose options for the development of sound professional and public policies related to human genome research and its applications. The ELSI Working Group has long been involved in discussions about the fair use of genetic information. In a 1993 report, "Genetic Information and Health Insurance,"8 the ELSI Working Group recommended a return to the risk-spreading goal of insurance. The Working Group suggested that individuals be given access to health care insurance irrespective of information, including genetic information about their past, current, or future health status. Because denial of insurance coverage for a costly disease such as breast cancer may prove to be a death sentence for many women, the National Action Plan on Breast Cancer (NAPBC), a public-private partnership designed to eradicate breast cancer as a threat to the lives of American women, has identified genetic discrimination in health insurance as a high priority.
Building on their shared concerns, the NAPBC and the ELSI Working Group cosponsored a workshop in July 1995 on genetic discrimination and health insurance.2 Scientists, representatives from the insurance industry, and members of the ELSI Working Group and the NAPBC participated in the one-day session. On the basis of the information presented at the workshop, the ELSI Working Group and the NAPBC developed the following recommendations and definitions for state and federal policy-makers to protect against genetic discrimination:
1) Insurance providers should be prohibited from using genetic information, or an individual's request for genetic services, to deny or limit any coverage or establish eligibility, continuation, enrollment, or contribution requirements.
2) Insurance providers should be prohibited from establishing differential rates or premium payments based on genetic information or an individual's request for genetic services.
3) Insurance providers should be prohibited from requesting or requiring collection or disclosure of genetic information.
4) Insurance providers and other holders of genetic information should be prohibited from releasing genetic information without prior written authorization of the individual. Written authorization should be required for each disclosure and include to whom the disclosure would be made.
The definitions are as follows. Genetic information is information about genes, gene products, or inherited characteristics that may derive from the individual or a family member. Insurance provider means an insurance company, employer, or any other entity providing a plan of health insurance or health benefits including group and individual health plans whether fully insured or self-funded.
These recommendations have been endorsed by the National Advisory Council for Human Genome Research (NACHGR). The NACHGR stresses the positive value of genetic information for improving the medical care of individual patients and the need to ensure the freedom of patients and their health care providers to use genetic information for patient care. The NACHGR views the elimination of the use of genetic information to discriminate against individuals in their access to health insurance as a critical step toward these goals.
The recommendations presented here for state and federal policy-makers are intended to help ensure that our current social, economic, and health care policies keep pace with both the opportunities and challenges that the new genetics present for understanding the causes of disease and developing new treatment and preventive strategies.
l. Reporting an article in Science, 270:391-393 (20 October 1995). 2. "Genetic discrimination and health insurance: A Case study on breast cancer," Bethesda, Maryland, 11 July 1995, workshop sponsored by the NAPBC, and the NIH-DOE Working Group on the ELSI of Human Genome Research. 3. Employee Benefit Research Institute Special Report SR-28, issue brief number 158, February 1995. 4. K. H. Rothenburg, J. Law Med. Ethics, in press. 5. The March 1995 EEOC guidance on the term "disability" extends protection to individuals who are discriminated against in employment decisions solely on the basis of genetic information. This is the first broad federal protection against unfair use of genetic information. 6. "Genetic information and health insurance: Report of the task force on genetic information and insurance (NIH-DOE Working Group on the ELSI of Human Genome Research, 10 May 1993).
VHL Family in Hungary
by Hannah S., Budapest, Hungary
My husband András and I are chemists. We married after finishing our university studies in 1966. Since then I have been working at a major university in Hungary. My main research activities are the investigation of the structure and activity of peptide hormones and the synthesis of peptide derivatives with selective anti-tumor activity. My husband was working in a semi-conductor research laboratory, and later he became the director of a small company dealing with computers, especially designing and building medical imaging systems.
In the spring of 1971 my husband noticed some black stains in his vision. His eye was covered with blood. He was told that it was a blood vessel tumor. He went through two unsuccessful photocoagulation operations in Budapest, and before a third one (which we feared would also be unsuccessful) we made inquiries to find a specialist anywhere in the world. At that time, behind the "Iron Curtain," it was not easy to inquire about other countries, much less to go there. Anyway we learned that Professor Meyer-Schwickerath in Essen, Germany, was the only specialist in Europe who treated this von Hippel-Lindau disease with laser. He immediately agreed to take my husband’s case, and in a relatively short time he got permission to travel to Germany. I was pregnant at the time with our elder son Mark. András returned from Germany just before my delivery.
He was told to go regularly for check-ups, which was not possible, but occasionally, perhaps twice in the following ten years, he managed to return to Germany. Luckily everything was okay, and we thought that this problem was solved forever. I do not remember that we were told that this disease was inherited. Perhaps the doctors we dealt with didn’t know that then.
So we were living happily, and our younger son Ãron was born in 1973.
In March 1987 Ãron was often complaining about indisposition in the morning. We went to the doctor but he found nothing, because the complaints were not very definitive. But one day he told us that he could not see well, so I took him to an ophthalmologist, who advised a thorough medical check-up. We turned to our friend, a surgeon at the pediatric clinic. The next day Ãron was examined and was found to have a very high blood pressure. First it was thought that he had some problem with his kidneys, and there were some awful days until after an ultrasound examination it turned out that he had bilateral pheochromocytoma, the first time this had been found in a child in Hungary. He underwent surgery.
Then the whole family was checked by ultrasound for pheochromocytoma and both Mark and András were found to have pheos on one side. Mark had a broken arm at the time, and was operated on with his arm in a plaster cast, since because of the high blood pressure the operation was urgently needed. After the operation a slightly higher blood pressure than normal remained, but nobody seemed very concerned.
András had never had high blood pressure, and had no symptoms of the pheochromocytoma, but still had the surgery because we feared that the tumor might become malignant. [We now know that while sporadic pheos often become malignant, the pheos of VHL very rarely progress to cancer. However they do have to be treated promptly to prevent damage to the heart and vascular system.]
Thus in two months there were three operations in our family and thank God all the tumors were benign.
Although the doctors advised us to go for yearly check-ups, we went only after the first year and later not, because the boys were very much against it. They never talked about the operations and hated if someone mentioned it or inquired after their health. We also wanted to avoid the development of an illness consciousness. They seemed to be fine and we were not really forced to go for checkups.
Thus it was very shocking that in 1990, when we spent our summer holidays in Cyprus, Mark felt ill and when we came home and measured his blood pressure it was very high. The CT examination showed a pheo on the same side as before and he was operated again, and again after the operation his blood pressure was not perfect.
The next spring, 1991, he looked unwell, but had no specific complaints. His urine test showed some deviation from normal. I was getting desperate and decided to go to another hospital where they have more experience with pheochromocytomas. Through personal connections we went to Cologne, Germany, where he was thoroughly examined and it was found that he had a pheo on the other side. This tumor could be detected only in a rotating scintigraph [%%needs a note] which was not available in Hungary, so the tumor had not been seen before. So he was operated on again, for the third time. If he had had proper diagnosis, they could probably have done the whole job in one operation. It was thought that he had multi-endocrine neoplasia type 2 (MEN2) [another rare hereditary condition which also causes pheos] and we were told to go for check-ups every half year, for urine tests and calcitonin measurements.
Last summer (1994) in connection with my research work I met Dr. Michael Price, the secretary of the European Organization for Research and Treatment of Cancer (EORTC), and in an unofficial discussion I asked him whether he could help me to find a place where the genetic testing of my sons could be performed to locate the chromosomal aberrations causing these awful pheos. He was very kind and arranged a connection with Dr. Eamonn Maher in England.
When Mark began having symptoms of a brain tumor, we asked Dr. Maher for a referral to a neurosurgeon specializing in VHL. We thus found our way to the VHL Family Alliance, who gave us a list of European doctors and family contacts. Our son was treated by Dr. Neumann’s wonderful team in Freiburg. He came through his surgery beautifully.
But enough about these depressing operations. Mark is now 24 and has finished his university studies. In spite of the brain surgery he never postponed his exams. He is a mechanical engineer. He is working now with his father and studying as a post-graduate student in economics. He is a very bright, sharp-minded, charming and generous boy, has a lot of friends, likes skiing and wind surfing.
Ãron, 22, is still a student. He studied geophysics for three years, but this year he changed his mind and has turned to astronomy. He is interested in history and computers as well. He is an independent character, very warm-hearted and more introverted than Mark, with strong principles. Presently he is attending a language course in London. He does not care much for sports, although he likes to ski.
Both of them are very brave, with a good sense of humor, and they never complain or pity themselves. So you see I have the most wonderful sons in the world, as all mothers do!
According to the genetic projections, there are 300 people with VHL in Hungary, who, like us, struggle to get the right information and treatment. We are working with our physicians here to publish an article about VHL in a medical journal and to develop a VHL Clinical Care Center in Hungary.
Editor’s Note: Please note that pheochromocytomas can occur on both sides, both inside an adrenal gland and outside of one. People can have more than two pheos, as Mark did here, so blood pressure and urine chemicals should continue to be checked, even after bilateral adrenalectomy. It is most important to test for pheochromocytomas before undergoing surgery for any reasons, and before going through the childbirthing process. MIBG, a specific test for a pheo, has recently been approved by the U.S. FDA and is now considered the standard test worldwide for locating a pheo, wherever it may occur in the body.
We remember . . .
Thea F., who died of lung cancer after a long bout with VHL. She was 43. "She was the bravest person I’ve ever known, and I and many others loved her very much." -- Jack F., Mass.
Jerry W. Jerry was very gifted in music and art, and delighted us with his creations. We as a family feel that Jerry had the heart of a lion. We feel lucky to have had him with us." -- Michelle O., Fla.
Challenge Grant Successfully Met !
Thanks to each and every one of you, we brought in the $26,000 within the forecasted time. Many thanks to everyone who made it possible for us to meet this goal, and to award our First Annual VHLFA Research Grant to Dr. Diana Griffith of Harvard Medical School for her project "Derivation of the Crystal Structure of VHL."
The majority of it came in with little pink slips attached -- responses to our mailing, and to menbers' outreach to their friends and family.
This is only the beginning. With mention in the March issue of Scientific American and a spring issue of Science, and our new research presence on the Internet, we are generating a lot of interest. We are receiving additional proposals, and hope to be able to award at least one more grant this year.
Please continue to remember the Fund for Cancer Research in your own regular charitable contributions, and whenever an opportunity arises to suggest it to friends and businesses near you. You will find among our list of thank-yous a number of businesses who have matched the gifts of employees, donated in honor of an employee, or simply responded to a neighborly request from their community.
The biggest reason people don't give is that they were not asked. With your help, we can increase the visibility of the need to solve VHL and tumor conditions for everyone.
VHL Family Forum On-line ©1995 by the VHL Family
Alliance. All rights reserved. Reproduction for publication requires
written permission in advance. We will be glad to supply additional
copies for health professionals to distribute to their patients.
VHL Family Forum, Newsletter of the VHL Family Alliance
Editor: Joyce Wilcox Graff, 1-617-277-5667 (eve)
Adviser: Debra L. Collins, M.S., U. Kansas Med. Center, 1-913-588-6043
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