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Research Databasefrom the VHL Family Forum, newsletter of the VHL Family Alliance, June 1994
Research Database-- 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. In 1995 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. 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://www.vhl.org 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 ongoing efforts in building and maintaining the database. Further information. For further information, or to apply for statistical extracts, please contact the Chair, VHLFA Research Committee, research@vhl.org, 2001 Beacon St, Suite 208, Boston, MA 02135-7787 USA
-- Joyce Graff, Editor 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. [from the June 1996 issue of VHL Family Forum]
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