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Newsletter 1996
VHL Family Forum: ISSN 1066-4130 Volume 4, Number 2 June 1996 Section 1
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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
by Patti K., California, Chair, VHLFA Research database feasibility study
The VHL Family Alliance is building a research database to further the knowledge of researchers, physicians, and patients about von Hippel-Lindau disease. The VHLFA is an ideal clearing house for gathering this information. We have the largest database of VHL patients' addresses in the world. We are in a unique position to collect a vast quantity of data which will attract researchers and which, most importantly, will eventually improve diagnosis, treatment, and quality of life for people with von Hippel-Lindau disease.
In June 1994 the Alliance began examining the feasibility of such a database. Last year data was gathered on an experimental basis from fifty volunteers who attended the California state meeting and the Boston VHLFA Conference, plus participants from Spain, Australia, and New Zealand. Information from more than 60 people was entered into a trial database. This helped us identify some changes we needed to make to the questionnaires.
We are pleased to include the revised questionnaire with this newsletter. Patients are invited to participate in submitting data about VHL, and physicians are encouraged to distribute the questionnaire to any patients they may have. We hope that you will take the time to fill out the questionnaire, to add your comments about the questionnaire itself, and to add any questions you would like to see in next year's revision.
Confidentiality of patient information is of utmost concern to the Board of Directors of the VHLFA. Each individual is assigned a identification code, and information in the research database is identified only by code. Name, address, and other personal details are kept entirely separate. The VHLFA volunteers who handle the questionnaires sign confidentiality agreements. Only data from patients who have given their consent will be entered into the research database.
Summary Statistics may be made available in this newsletter, and on our home page on the internet, as a demonstration of the kind of things we can learn from the database. For a sample of summary information, see the article on page 6. Statistical information (without patient identification) may be given out to researchers for the purpose of journal articles, statistical studies, etc., at the discretion of the Research Management Committee and its advisors. See http://neurosurgery.mgh.harvard.edu/vhl-fa/
Access for Researchers. The VHLFA will actively encourage researchers to apply for access to the information stored in the research database. Procedures for accessing the data will appear in the newsletter and on our home page on the Internet.
Requests to contact patients directly will be reviewed by the Research Advisory Council and members of the Medical Advisory Board. If the request is approved, VHLFA staff will determine which patients fit the researcher's criteria, and will notify them of the project or provide contact information, as the patient has requested on page 7. If participating patients prefer not to be contacted, their information will be used in the statistical studies only.
Goals of the Database. The goal of the database is to encourage further research into VHL and to encourage scientific articles to be written for journals. Susan Booker, Research Program Coordinator for the Hereditary Colorectal Cancer Registry (HCCR) at Johns Hopkins Medical Center states that the HCCR is "just a gold mine for people who want to learn about the disease." Three years ago, the majority of articles about VHL in the literature talked about 1-3 cases. A few multi-center studies now contain information about 50-100 patients. By gathering statistical information on larger pools of patients, we hope to gain greater perspective on the range of issues in VHL, the effectiveness of various treatments, and potentially the correlation between types of mutations and types of tumors in VHL.
Seeking a Home. We are still looking for a permanent home for the VHLFA database. We have filed some applications for funding, and hope to establish it in a permanent home within the year. Meanwhile, we are expanding the pilot project to demonstrate the value to the families and researchers of having this central repository of information.
Many thanks to Patti K. for her essential groundwork on the feasibility and structure of the database, and to Bill Dickson for his work in structuring the Research Committee and the Research Grants process
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Further information. For further information, or to apply for statistical extracts, please contact the VHLFA Research Committee, research@vhl.org
N-PATH, National Patient Air Transport Hotline, the nation's only "single-source" of information on the full spectrum of long-distance patient air transport options. Call them for assistance in seeking transportation for medical care`. A charitable service of Mercy Medical Airlift. 1-800-296-1217.
Sex, Love, and Chronic Illness
by Lucille Carlton
Sex has always been a difficult subject to discuss. However, it is an important part of loving relationships, and close physical contact is something we require as human beings. When chronic illness interferes with sexual issues, couples are often unable to communicate with professionals -- or even with each other -- about sexual fulfillment. Written as a labor of love, this book deals sensitively and directly with many of the frustrations facing couples dealing with a chronic illness, and gives them reassurance that they are not alone. $13.95 through Athena Rx Home Pharmacy, 800 Gateway Blvd, South San Francisco, CA 94080 1-800-5-ATHENA.
Question: My aunt who has VHL is a heavy smoker and enjoys an occasional whiskey. Should I worry that these habits might make her VHL worse?
Answer: We don’t have statistical evidence about these habits with VHL, but we do have some statistics about cancer in general. The only thing besides VHL which is known to cause kidney cancer is smoking. It is important that people with VHL stop smoking, both themselves and others in their households. Drinking should be limited to a modest amount. Women who are pregnant should not drink alcoholic beverages.
- - Berton Zbar, M.D., Laboratory of Immunobiology, Natl Cancer Inst, Frederick, Md.
U.S. Department of Health defines “moderation” as no more than one drink per day for women and no more than 2 drinks per day for men. Dietary Guidelines for Americans, US Departments of Agriculture and Health and Human Services, (1995), p. 40.
Question: I had an interesting test a few weeks ago. The test is called a diffusion MRI. The test showed some surprising results. My other MRI done at three different institutions showed a syrinx attached to each spinal cord hemangioblastoma. With this new procedure it shows there are no syrinx, but a fluid swollen spinal cord. With this new test my neurosurgeon was completely confused, as are the radiologists. Does this mean that every hemangioblastoma or astrocytoma with MRIs showing syrinx should have a diffusion MRI?
Answer: It has been recognized for nearly a decade that hemangioblastomas in the spinal cord occasionally cause swelling in the spinal cord that is not produced by a cyst. I believe the first report of this appeared in the Journal of Neurosurgery in April of 1988. In that report Robert Solomon and Bennett Stein from the Department of Neurosurgery at Columbia-Presbyterian Medical Center in New York reported six patients with diffuse engorgement of the spinal cord that was unrelated to the presence of a cyst.
With the refinement of MRI scanning and the common use of intraoperative ultrasound this phenomenon has been more completely defined. It appears to be an accumulation of fluid within the spinal cord that produces edema [swelling] and expansion of the cord and can be seen with current techniques of MRI scanning. The region of swelling often appears several months or a few years before the development of a cystic cavity within the cord (syringomyelia). Whether the spinal cord is affected by syringomyelia or swelling (without cyst) can almost always be easily distinguished by current MRI techniques. Thus, the diffusion-weighted MRI technique may help researchers understand the developmental process, but it is not essential in patient management.
-- Edward H. Oldfield, M.D., F.A.C.S., Chief, Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, Maryland
| Beating the odds of inherited Illness |
You can’t change your genes (yet), but you can take preventive action
-- by Joyce Wilcox Graff, Editor
Barney V. knew that his father and three sisters had had their first brain tumors at 23. He was convinced that he too would have a brain tumor at 23. He got poor grades during his last year of college, and worried himself into an ulcer.
While he was in the hospital, the doctor ordered a brain scan, and found that Barney’s brain was fine. He had a few small angiomas in the eye which were easily treated with laser. They gave him medicine for his ulcer, set up a regular screening schedule to monitor the VHL, and sent him on his way, much relieved.
Bob T. knew that his father had died of von Hippel-Lindau disease, but he didn’t want to think about it. After all, he was young and healthy and felt totally fit -- it couldn’t possibly happen to him.
It was his wife who finally pressed him to go for testing in his late twenties. Even though he did not yet have symptoms, he had a brain stem tumor which was dangerously large and which threatened to cause sudden death or paralysis. The tumor was removed, with some damage to his ability to walk. Had it been found earlier, the surgery to remove the tumor would have been much simpler.
Carol S. had watched her father die of VHL in the 1970’s, and held her brother’s hand through several VHL brain surgeries. She lived her life in a gloom of fatalism, fearful that each day might be the day she discovered her first brain tumor. Terrified that she might have a child with VHL, and fearful of broaching the subject with a potential spouse, she avoided forming lasting relationships.
Finally, at thirty-three, she decided to have her tubes tied so she would never have children. Her brother encouraged her first to go for DNA testing, and she reluctantly agreed. DNA testing showed that Carol does not carry the VHL gene, and cannot possibly pass VHL to her offspring. It took a year of therapy and the love of a very special partner to help her see herself as a well person with a normal future. Today she is married and expecting her second child.
Terry N. knew that his grandmother had had VHL, and that his mother and one of his uncles had had brain tumors, but he felt he couldn’t afford insurance, so he didn’t go for tests. Besides, he was worried about his employer finding out that he was at risk for a rare disease. When he began to have lower back pain, he went to the doctor and discovered that he had a large cancerous tumor in one kidney and several smaller ones in the other, and the cancer had spread to his lung.
VHL in the kidney is very treatable in the early stages, but once it spreads to other organs it’s a much more difficult battle. Had Terry begun preventive action on his kidneys ten years before, he would not have been dealing with cancer in the lung. What do Barney, Bob, Carol, and Terry have in common? They were each “hiding out” from VHL in their own ways. But hiding does not protect you from VHL. It actually permits VHL to rule your life in a very different, very awful way. First, Or you may be depriving yourself of the opportunity to find out that you are in good shape and can reduce or eliminate your worries. Second, if there is something there, hiding permits the situation to worsen to a point where the outcome may more likely be poor.
While we certainly don’t yet have all the answers we wish we had for prevention of VHL tumors, we do know some, and the most important one of all is early diagnosis. Knowing you are at risk, you have the opportunity to take the first steps. Failure to go for testing can have disastrous consequences -- both psychologically and physically. In sports, you can’t hope to win the game if you don’t know the rules. Find out what game you’re playing and work with your medical team to maintain your health!!!
Other things you can do:
- Get real information on your condition; don’t let fears rule your actions.
- Stop smoking yourself, and among others in your home and workplace to reduce your exposure to second-hand smoke. Don’t use smokeless tobacco either.
- Limit consumption of alcohol as well as smoked and cured foods.
- Eat a variety of fruits and vegetables daily, but minimize your exposure to insecticides. Wash fruits and vegetables carefully, and consider buying organically grown.
- Reduce the amount of meat in your diet; eat a diet based predominantly on plants.
- Increase your intake of high-fiber foods. Include some soy products at least once or twice a week.
- Maintain a desirable weight; engage in moderate exercise.
Diet recommendations are from the American Cancer Society. Case histories are compiled from real people who are members of the VHL Family Alliance; identities have been obscured.
Reeve pleads for Brain Research and Insurance Reform mystory
-- adapted from an article by Judith Havemann, The Washington Post, April 1996
In better days, Reeve strode into a Capitol Hill hearing room exuding the charm and confidence that made him one of Hollywood’s favorite leading men -- the unmistakable Superman speaking in behalf of funding for the arts.
Now Christopher Reeve sits in a wheelchair in his suburban New York home hooked up to a respirator, his powerful voice reduced to short gasps of eight to 10 words at a time. Paralyzed in a horseback-riding accident in May and facing a lifetime of disability, he has become one of the millions of Americans trying to plan uncertain futures around the fine print of health insurance policies.
Reeve does not suggest that his financial picture is that of the average person, and his ability to negotiate with the web of insurers now involved in his personal crisis is far greater than most. But his injury has brought home to his family the fragile nature of fortunes and futures based on expectations of health and continued employment. Reeve has approached his problem in typical fashion. He is fighting back, using his political clout to position himself as an activist for changing national policy.
“A year or two ago we seemed to be very well off,” said Reeve, talking into a speaker phone from his home in Pound Ridge, N.Y., where he lives with his wife and his 3-year-old son, Will. Now, “the picture has changed. And there are so many other people who are in this situation whose positions are so much worse.”
Reeve’s principal health insurance -- bought 20 years ago, through the American Federation of Television and Radio Artists, when his career was blossoming -- is rapidly running out. Care for his catastrophic injury will cost about $400,000 a year, an extraordinary cost faced by relatively few Americans. His main policy (through an insurer he declines to name) has a $1.2 million lifetime cap on payments for catastrophic injury, slightly more than the typical $1 million, industry statistics show. This gives Reeve about three years of coverage.
Business groups call such caps “regrettable but necessary,” designed to keep insurance costs from skyrocketing. About 70% of the nation’s health insurance policies have lifetime caps, often never noticed by the policyholder until disaster strikes.
Reeve’s wife, Dana, described discovering their policy’s cap as a “one-two punch. When I really looked in depth at the policy, to be quite honest, it was . . . as horrifying to me as when Chris first had his accident. It was one of the worst days, when I realized what our financial situation would be and what Chris’s care would cost.”
Reeve is writing to every U.S. Senator and endorsing legislation by Sen. James M. Jeffords (R-Vt.) that would change the lifetime cap. Jeffords sought him out for the help, knowing of Reeve’s situation. Under the amendment, no insurance company would be allowed to set a cap of less than $10 million.
Debate over the issue has been bitter and -- up to now -- largely hidden in the grinding health reform fight on Capitol Hill. The amendment would be added to the health care reform measure being pushed by Sen. Nancy Landon Kassebaum (R-Kan.) and Sen. Edward M. Kennedy (D- Mass.), which would stop insurance companies from dropping people when they change jobs or denying coverage for pre-existing conditions. That measure unanimously passed the Senate Labor and Human Relations Committee in August, but it has been stalled ever since by secret parliamentary tactics.
The basic Kassebaum bill has run headlong into opposition from some powerful insurance companies. Amendments like the one endorsed by Reeve have encountered even more visceral reaction from the larger business community.
James Klein, president of the Association of Private Pension and Welfare Plans, said Reeve presented a “tremendously compelling fact situation” and expressed profound sympathy for Reeve’s “extraordinary tragedy.” But, he said “limits are a regrettable but necessary part of many health plans. Without them, many employers -- those who are voluntarily providing health care benefits to their employees -- wouldn’t be able to provide health care coverage at all.”
Reeve said dropping the lifetime limits on medical payments and spreading the cost of the few catastrophic cases across all policyholders would increase a typical policy’s cost about $8 a year, a figure disputed by some in the industry. Klein said cost increases would vary depending on the benefits provided by a company but could be financially ruinous.
Once these insurance caps are reached, taxpayers often pick up the liability through the federal Medicaid program. About one-third of total Medicaid costs go to the disabled, who compose less than 15% of those enrolled. And a disproportionate share of those resources go to a relative handful of severely incapacitated individuals whose intensive care costs hundreds of thousands of dollars a year.
“Their costs are so high that if left unchecked they will bankrupt the country,” Reeve said.
Personally, he said, he had sufficient resources not to need Medicaid. But, his voice bristling, he said “you’re mistaken if you think” he could support costs of $400,0000 a year “unless I find work.”
Reeve has no memory of falling off his horse last Memorial Day weekend at a riding exhibition in Culpepper, Virginia. He never has flashbacks or nightmares.
Unconscious for four days, he woke up to learn he was paralyzed and would need an operation to stabilize his head and spine as soon as his lungs were clear of pneumonia.
He broke his first two cervical vertebrae, crushing his spinal cord where it exits from his brain, in effect cutting off his body from his mind.
Only gradually did he become aware of what his family already knew: in addition to the massive injuries, he didn’t have enough insurance to pay for his medical care. He needs nurses 24 hours a day, aides to lift him in and out of his wheelchair, and therapists to keep his body from atrophying.
“I’m going to go back to work,” he said repeatedly. He hopes to be able to take advantage of some directing offers next fall, and he could command substantial fees for speaking around the country.
Since the accident, Reeve said, he has “experienced some very slow recovery. I have increased sensation in my left leg and increased movement in my shoulders.”
Last November 2, he said, “I was not able to take one breath without the ventilator, but as recently as last week I was able to be off the ventilator for 90 minutes, and I think that will increase.”
Two weeks before Christmas, Reeve was discharged from the Kessler Institute for Rehabilitation in New Jersey. But his health remains precarious. He was rushed to Northern Westchester Medical Center last month with an erratic blood pressure condition caused, in this case, by a urinary tract infection.
He still depends on the ventilator to breathe, and it occasionally stops. “If there were a malfunction in the ventilator, I would not survive unless there were somebody there.”
His insurance company rules important aspects of his life. It refused, for example, to let him leave the Kessler Rehabilitation Hospital overnight to spend Thanksgiving with his family. But he understands the insurance companies better than most; his great- grandfather was board chairman of Prudential Insurance Company. “I remember him saying that they felt an obligation to their customers from the cradle to the grave,” he said.
Reeve appears absolutely confident that a cure will be found for spinal cord injuries in ten years. Researchers are working to regenerate crushed nerves, possibly allowing victims to walk again. A $40 million-a-year government investment in research, Reeve said, could save billions in Medicaid and Medicare costs.
It is the “proper humanitarian and economic thing to do,” he said. “All people in my situation are desperate not to be a burden to their families, to government, or to the insurance companies.”
May 12-18 marked Brain Awareness Week, a national public information campaign created by the Dana Alliance for Brain Initiatives to unite scientific institutions, professional organizations, advocacy groups and public officials under the umbrella theme, Brain Research for the Life of Your Mind. This is a common effort to expand research on the treatment, cure, and prevention of brain diseases and disorders that affect more than 50 million Americans. The VHL Family Alliance is a partner and participated in events on Capitol Hill in May.
Chairman, Christopher Reeve, representing the American Paralysis Association, has given this movement a level of visibility which it would never have achieved without his sponsorship.
The partners in Brain Awareness Week include 15 government entities, including 11 of the National Institutes of Health, the Library of Congress, and over 125 scientific, educational, and patient outreach groups. A website is available at:
As part of the campaign, people of all ages across the country were able to visit brain research laboratories, take a brain quiz, see exhibits on the brain, hear lectures from prominent scientists, find information about the brain through an Internet web site, and participate in many other national and local activities.
Brain Quiz
Which of the following are disorders of the brain?
- a. Cerebral Palsy, Epilepsy, Paralysis, Spinal Cord injury, Multiple Sclerosis, VHL spinal lesions.
- b. Schizophrenia, Depression, Alcohol Addiction, Anxiety Disorders
- c. Autism, Anorexia, Learning Disabilities, Rett Syndrome, Dyslexia, Migraines
- d. Alzheimer’s Tourette Syndrome, Parkinson’s, VHL and other Brain Tumors, Lou Gehrig’s Disease.
- e. All of the above.
Answer: e., All of the above. Brain research demonstrates that disorders as different as addiction, learning disabilities, and Lou Gehrig’s disease all have their roots in the brain. Brain-related disorders range from wide-spread conditions such as pain, which affects virtually everyone, to rare disorders such as Williams Syndrome, a cause of mental retardation in one in 20,000 children, or VHL, which causes tumors in one in 32,000 people worldwide. Every American will be affected at some point in his or her life, either personally, or with a family member’s struggle with a brain disorder.
| Survey as a Learning Tool |
At the Boston meeting we distributed some on-site questionnaires to test what we might be able to learn from each other, and what useful information we might be able to provide to ourselves and our physicians. Our goal is, as ever, to work toward improvements in diagnosis, treatment, and quality of life for all of us. Here are the results of the Boston On-Site Survey.
The goal of this section was to learn what was working best in reaching VHL families. Respondents were meeting attendees, not all of whom have VHL themselves.
How did you first hear about us? 12% heard about us from a doctor, 18% from a friend, 45% from a relative, 9% from a brochure, 9% from newspaper or magazine, 6% from the internet.
How long did you wait before contacting us? 46% waited a few days, 23% waited a few weeks, 23% waited months, 9% waited longer than that.
How did you first reach out to us? 69% reached out by telephone, 27% by letter, 4% by e-mail. We have seen a marked increase in internet contacts over the last year, and will be interested to compare the next round of results.
Then we asked a number of questions specifically to people with VHL. We wanted to compile their experiences of gaining a diagnosis. Of people with VHL, 37 people responded, ranging in age from 19 to 59 (average age 38).
How did you first learn you had VHL? (a) It runs in the family, so I knew I was at risk (37%); (b) Another family member was diagnosed so they checked me too (30%); (c) I was the first person in my family to get a diagnosis of VHL (30%).
How old were you when you had your first symptoms? Ages ranged from 9 to 59 (with a statistical mean of 19.2 years). 14% of those responding had no symptoms.
How old were you when you were diagnosed? Age at diagnosis ranged from 9 to 59 (mean=22). One man was screened until he was 50 years old, was told he could stop screening since he was too old to get VHL, and was subsequently diagnosed at age 59 with kidney cancer. One person still has no clear diagnosis though she has had multiple spinal tumors.
In 68% of the cases, diagnosis was made because of symptoms, while 31% of these people were diagnosed through asymptomatic testing.
What physician did you first go to with your symptoms? primary care physician (33%), neurologist or neurosurgeon (22%), ophthalmologist (27%), urologist (11%).
At first the doctors thought it was... (a) VHL (68%); (b) hypochondria (9%), (c) multiple sclerosis (4%), (d) sporadic brain tumor (18%). Other early misdiagnoses included random migraines, seizure disorder of unknown origin, sporadic pheo, polycystic kidney disease, dual retinal hemangioma (not VHL), and carpal tunnel syndrome.
Testing was ordered by the... primary care physician (43%), pediatrician (3%), ophthalmologist (7%), geneticist (7%), or only on the patient’s own insistence (2%).
These answers tend to indicate that about 68% of the time the system worked reasonably well. It also gives us some clues as to how we might provide some additional information to physicians which would shrink that 32%. The system will not work perfectly until there is a simple test for VHL, but some additional information on differential diagnoses could help physicians move more rapidly from these first impressions to a diagnosis of VHL.
Of the 25 women responding, 24% reported having cysts and 16% some sort of tumor (fibroids or other) in the uterine area. Cysts and tumors are so prevalent among women that it is difficult to draw any conclusions from these replies.
Of the 11 men responding, 78% reported having epididymal cystadenomas (epi cysts). While 11 is too small a sample to be statistically significant, this is a much higher percentage of penetration of epi cysts than reported in any of the literature. 44% of these men found them in their teens, 33% in their 20’s, and one in his 50’s. Half first discovered them himself, and half were first found by the physician (most of these at NIH). None of these men discussed this issue with a relative, all went to a doctor with their concerns. Half were dissatisfied with the advice given them by the doctor. 80% of those with epi cysts reported no blockages or other problems with them, one was infertile due to epi cysts. We are adding some information on epi cysts to the new handbook which we hope will be more helpful.
We hope that you will participate in surveys, and that you will share with us your opinions about the surveys themselves and how we can improve them. We are always interested in your feedback, positive and negative. Your participation is encouraged, but of course is always voluntary. The greater the number of people participating, the more meaningful the results.
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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