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Newsletter 2006
VHL Family Forum: ISSN 1066-4130 Volume 4, Number 2 June 1996
Section 2
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
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1996 RESEARCH QUESTIONNAIRE
In an effort to further research, the VHL Family Alliance is
compiling a database of patients who are affected with VHL.
From time to time the VHL Family Alliance may receive requests for
names of families willing to participate in research. Only bona fide
research projects will be considered that have met with the approval of
our Research Management Committee.
Are you willing to be contacted directly by VHLFA approved medical
researchers who are studying VHL?
___ Yes ___ No ___ Ask me each time
If you mark “NO”, the information which you provide by completing the
attached form will only be released in summaries which do not identify
you by name in any way. If you mark “YES” you may or may not be
contacted. If contacted, you have NO obligation to respond or to
participate in any way.
Are you willing to be contacted by medical researchers who are
seeking tissue or blood samples?
___ Yes ___ No ___ Ask me each time
Signature: __________________________________ Printed Name: ___________________________
Parent or guardian of a minor child:
Signature: __________________________________ Printed Name: ___________________________
Witness: ____________________________________ Printed Name: ___________________________
Date: _______________________________________
Your participation is totally voluntary. You can ask to have this
form returned to you at any time. You will never be pressured to do
anything or to participate in any research unless you so choose. Please
complete one form for each person affected by VHL. You may be asked to
update this information annually. Your comments are most welcome.
Thank you for your participation!
RESEARCH QUESTIONNAIRE
Name:
________________________________________________________________________________________
Last First Middle
Address:________________________________________________________________________________________
Street
_________________________________________________________________________________________
City State Zip
Telephone:_______________________________________________________________________________________
Home Work
Birthdate: _______________________________________ Sex:___ Male ___ Female
Ethnicity: ___ American Indian/Alaskan native
___ Asian/Pacific Islander
___ African or African American, not of Hispanic origin
___ Hispanic
___ Caucasian/White, not of Hispanic origin
Have you participated in any studies at the National Institutes of
Health in Bethesda, Maryland?
___ Yes ___ No
FAMILY HISTORY:
Are your parents affected by VHL?
Mother: ___ Yes ___ No ___ Maybe
___ Probably ___ Unknown
Father: ___ Yes ___ No ___ Maybe
___ Probably ___ Unknown
Do you have brothers or sisters?
___ Yes. Number of brothers ________ Number of
sisters________
Have all siblings been evaluated for VHL? ___ Yes ___ No
Are they affected by VHL? If yes, how many? ____ brothers ____
sisters
Do you have children?
___ Yes If so, how many? ________ ___ No
How many of those children were diagnosed with (or are believed to
have) VHL?
____ sons ____ daughters
Do you have other relatives affected by VHL?
___ Yes ___ No ___ Maybe ___
Probably ___ Unknown
Number Yes____ # No____ # Maybe ____ # Probably ____
# Unknown ____
Have any of your family members completed a questionnaire like this
for VHLFA?
___ Yes ___ No Name(s) _____________________________________________
May we send you questionnaires for your family?
___ Yes ___ No How many? _________
DNA TESTING:
Are you interested in DNA testing for your family?
___ Yes ___ No
Has the mutation in the VHL gene been found for your family?
___ Yes ___ No
If yes, what is the nucleotide change or name of the mutation?
_____________________________________________________________________________________________
Which laboratory found the mutation?
_________________________________________________________________________________
How do you think DNA testing can benefit your family?
___ To tell us who needs testing and who does not
___ To predict which VHL affects are more likely to occur
than others
___ To assist in child-bearing decisions
___ To perform pre-natal testing of embryos
___ To perform pre-implantation testing of zygotes
___ Other:
_________________________________________________________________________
Would you be willing to pay $1000 to find the mutation in your
family?
___ Yes ___ No ___ Other
____________________________________________
This would then be a “road map” which could be used to simplify
testing for other family members. Estimated cost for additional people
would be $250-300 each.
MEDICAL HISTORY:
Von Hippel-Lindau disease is a disease which can have a variety of
symptoms. Please check as accurately as possible the symptoms which
apply to you. N/E stands for “not evaluated”, that is if you have not
had screening for that particular body part. Under the Surgery column,
please list the date(s) of surgery. The word lesion is used to describe
angiomas, hemangioblastomas, and tumors.
Age at first symptoms: _________________________ Age when first
diagnosed: __________________________
First Symptoms:
_________________________________________________________________________________________________________________________________________________________________________________
EYES YES NO SURGERY N/E
Retinal lesions ________ ________ ________ _______
Other____________________ ________ ________ ________ _______
What is the status of the vision in your
Left Eye ___ Good vision ___ Partial vision ___ Blind ___ Enucleated
Right Eye ___ Good vision ___ Partial vision ___ Blind ___ Enucleated
BRAIN YES NO SURGERY N/E
Cerebellum lesions ________ ________ ________ _______
Brain stem lesions ________ ________ ________ _______
Other (e.g. pituitary) ________ ________ ________ _______
SPINAL CORD YES NO SURGERY N/E
Lesions inside cord ________ ________ ________ _______
Lesions outside cord ________ ________ ________ _______
Other
____________________ ________ ________ ________ _______
KIDNEYS YES NO SURGERY N/E
Cysts ________ ________ ________ _______
Renal Cell Carcinoma ________ ________ ________ _______
Other____________________ ________ ________ ________ _______
PANCREAS YES NO SURGERY N/E
Cysts ________ ________ ________ _______
Lesions ________ ________ ________ _______
Other____________________ ________ ________ ________ _______
ADRENAL GLANDS YES NO SURGERY N/E
Lesions ________ ________ ________ _______
High blood pressure ________ ________ ________ _______
Other____________________ ________ ________ ________ _______
EPIDIDYMIS (Gland next to the Testes)
(Men Only) YES NO SURGERY N/E
Cystadenomas ________ ________ ________ _______
Other____________________ ________ ________ ________ _______
FALLOPIAN TUBES or Broad Ligament
(Women Only) YES NO SURGERY N/E
Cystadenomas ________ ________ ________ _______
Other____________________ ________ ________ ________ _______
Childbearing (Women only)
How children have you had? (live births) ________ How many miscarriages? ________
HEARING CHANGES YES NO SURGERY N/E
Lesion or mass ________ ________ ________ _______
Frequent ringing in ears ________ ________
Any other changes in hearing, please describe:
Left side ______________________________________________________________________________
Right side ______________________________________________________________________________
OTHER things you think may be related to VHL...please explain below.
___ Hormonal problems? ___ Sweating attacks? ___ Diabetes?
___ Digestive problems? ___ Eating disorders? ___ Headaches?
___ Bloating of abdomen? ___ Panic attacks? ___ Spiking blood pressure?
___ Hiccups? ___ Sneezing? ___ Allergies?
___ Prematurely gray hair? (what age?____)
___ Blistering following surgery?
___ Skin lesions
___ Fatty tumors ___ Raised moles ___ Flat brown spots (state size) ___________________
___ Other things you feel may be related to VHL, please describe:
________________________________________________________________________________________________
________________________________________________________________________________________________
TREATMENTS:
Have you ever been treated with Gamma Knife, Lineac, or other
Stereotactic Radiation? ___ Yes ___ No
Have you ever been treated with kidney dialysis or transplant? ___
Yes ___ No
If yes, we will send you a supplementary questionnaire on these
topics.
OTHER MEDICATIONS:
Have you ever undergone any of the following therapies, or another
course of medication or radiation which is not listed here?
___ Interferon ___ Interleukin ___ Thalidomide
(which kind?)
_______________________________________________________________________________________
Conventional radiation therapy? Where?
________________________________________________________________________________________________
Other
________________________________________________________________________________________
What was the goal of the treatment?
________________________________________________________________________________________________
When and for how long did you undergo this treatment? (or
“continuing”)____________________________________________________________________________________
What drug(s) were used for post-treatment management?
_______________________________________________________________________________________________
What post-treatment effects did you experience?
________________________________________________________________________________________________
How long did the post-treatment recovery period last?
________________________________________________________________________________________________
If you encountered specific problems, please detail them (add paper as
needed)
At this point you are ____ months post-treatment. Would you say that
this treatment was successful? ___ Yes ___ No
Would you recommend it to hers?______________________________________________________________
_______________________________________________________________________________________
Comments on this questionnaire? Are there things you would change?
Add? Delete?
________________________________________________________________________________________________
________________________________________________________________________________________________
________________________________________________________________________________________________
________________________________________________________________________________________________
________________________________________________________________________________________________
What would you like to learn? In next year’s questionnaire, what would
you like us to ask the group?
________________________________________________________________________________________________
________________________________________________________________________________________________
________________________________________________________________________________________________
________________________________________________________________________________________________
________________________________________________________________________________________________
Thank you!
Please send your completed questionnaire to
VHL Family Alliance
Chairman, Research Committee
2001 Beacon St, Suite 208
Boston, MA 02135-7787 USA5
617-277-5667, Fax: 858-712-8712; e-mail: research@vhl.org
| Living with a Rare Disorder |
The National Organization for Rare Disorders, Resourceful Steps workshop, 30 September 1995.
. . . can be challenging. In addition to the physical discomforts and limitations, there is the added burden of dealing with most people’s unfamiliarity with your illness. Over 5,000 rare diseases collectively affect 20 million Americans. Yet, most patients remain misdiagnosed or undiagnosed for a long period of time -- many remain undiagnosed for six years or more.
Rare disorders affect less than one out of every 100 people.. VHL, for example, is estimated to affect one in 32,000 people. Diseases like VHL have become known as “orphan diseases” and the drugs developed to treat them are called orphan drugs.
In 1973 only ten products were approved that would have fallen under today’s definition of orphan drug. This was because the market was too small for pharmaceutical companies to consider it a worthwhile investment. In 1983, the situation changed when Congress passed the Orphan Drug Act. NORD was instrumental in lobbying for this act, which enables companies willing to develop orphan drugs to recoup the cost of researching and developing them by providing tax incentives and sole marketing rights. Since the Orphan Drug Act was introduced, over one hundred orphan drugs has been approved and dozens more are being researched.
If a drug therapy does exist and is available, it may well be very expensive. Then there are laboratory test costs, specialized equipment costs, caregiver expenses, and travel expenses to distant medical facilities. Even with adequate health insurance in place, co-payment expenses can be overwhelming. But the biggest cost of all is often the unseen toll that dealing with chronic illness takes on patients and their families and friends. When the illness is a rare disorder, there is the added difficulty of tracking down adequate information and hard- to-find support groups.
When you are looking for information about and referrals to sources of help, you will need a great deal of determination, perseverance and, most of all, hope. The following “Five Steps toward the Light” are meant to guide and advise you as you begin your search.
Five Steps Towards the Light
1. When you go to the doctor, write down any information that you want to share, including questions and observations. Be assertive -- patients should not feel intimidated by their physicians. Solid data that can be substantiated with published facts and/or physical findings in the patient can be medically important. If your doctor repeatedly refuses to learn from you, consider finding another physician.
2. Get hold of your medical records -- you can’t remove them from a facility but you can get copies made and take them with you. This is particularly important if you have a rare disorder and are seeking medical care from a new provider. Try to get a second opinion from a specialized source, such as a major medical center or teaching facility.
3. Be aware that rare diseases can be as frustrating to the physician as to the patient, possibly leading the doctor to recommend psychiatric help. Sometimes, even the patient’s family and friends have difficulty believing the patient is really suffering. Find a support group where you can get emotional and moral support as well as information about your illness.
When you start calling agencies and organizations for help and support, keep your information organized, accessible, and legible. Write a list of your questions and concerns so you will not have to gather your thoughts while on the phone. Make a note of responses to your questions, as well as the names of the people and agencies you contact, and their phone numbers. If the person you talk to seems rude or insensitive, try to stay calm. Don’t forget that everybody has bad days!
4. Keep in mind the many local sources of help available from charitable, religious, and civic organizations. Also, the reference section of your local library may be able to find you useful referrals. Many national organizations have local chapters that may be listed in your telephone book. If there is no local chapter, and no toll-free number for the national group, you may prefer to contact them in writing. Make sure to write legibly, in block capitals if possible, and always include your complete name, mailing address, zip code and phone number (including the area code) in the body of the letter.
5. Always be hopeful. Be persistent, but not unpleasant. Have the determination to keep on trying. You can make a difference; better yet, you may even make the difference!
Remember -- every journey begins with a single step!
National Organization for Rare Disorders, New Fairfield, Connecticut, 1-800-999-NORD. For VHL, the VHL Family Alliance will be happy to answer your questions by phone, fax, or E-mail, and can refer you or your physician to sources of second opinions, 1-800-767-4VHL. For local assistance with counseling, support groups, transportation, and volunteers, consult your local United Way, Cancer Society, Brain Tumor or Kidney support organizations, and the Well Spouse Foundation. Counselors skilled in working with people with chronic illness may be found through Diabetes or Kidney organizations, children’s hospitals, or large medical centers. http://www.wellspouse.org, wellspouse@aol.com.
| Tylenol & Alcohol, a Dangerous Cocktail |
So many of us take over-the-counter remedies for the lesser aches and pains of VHL and life in general, we wanted to warn people about possible liver damage from non-aspirin pain relievers when you drink alcohol. -- Editor A 39-year-old man who normally drank two to four glasses of wine at dinner ran into trouble when he began taking Tylenol, the principal ingredient of which is acetaminophen, a non-aspirin pain-reliever, in the recommended dose for the flu. The man developed liver failure and required an organ transplant to save his life.
He sued the manufacturer and won a multi-million-dollar judgment, which was upheld on appeal. Since then, additional lawsuits have been filed, alleging that the manufacturer did not adequately warn about the potential harm when acetaminophen and alcohol are mixed.
This connection is not new. Case reports have appeared in medical journals since 1977 about liver damage from the mixture of acetaminophen and alcohol. There are 94 known liver damage cases. In September 1995, researchers reported in the liver-specialty journal Hepatology, 67 more cases of serious liver damage linked to acetaminophen taken in usual therapeutic doses for adults (not overdoses taken in suicide attempts) and alcohol. This brings the total reported cases to 161, including 32 deaths.
Sixty-four percent of the new cases were considered alcoholic; however, 35 percent drank less than the equivalent of four glasses of wine, or three mixed drinks containing hard liquor per day.
While the U.S. Food & Drug Administration (FDA) has proposed rules requiring an alcohol warning on all non-prescription pain relievers, not just those containing acetaminophen, it now appears that these rules will not be promulgated before mid-1996. Some manufacturers have already voluntarily added the warning: If you generally consume three or more alcohol-containing drinks per day, you should consult your physician for when and how you should take Tylenol and other pain relievers.
Public Citizen Health Research Group finds this warning totally inadequate. It does not inform consumers that the potential problem is liver toxicity, or that liver toxicity is potentially life-threatening.
What You Can Do
If you drink alcohol, but less than four glasses of wine or three mixed drinks a day, use acetaminophen in the lowest possible dose to relieve your symptoms -- in no event more than four extra-strength or six regular-strength tablets daily -- and stop taking the drug as soon as your symptoms subside.
What is Moderation?
Moderation is defined as no more than one drink per day for women and no more than two drinks per day for men.
Count as a drink--
• 12 ounces of regular beer (150 calories)
• 5 ounces of wine (100 calories)
• 1.5 ounces of 80-proof distilled spirits (100 calories)
-- Nutrition and Your Health: Dietary Guidelines, 4th edition, 1995, U.S. Department of Agriculture, Home & Garden Bulletin #232. |
If you are using acetaminophen to treat cold or flu symptoms and regularly use alcohol, stop the alcohol until you are over the cold or flu, as it can aggravate cold and flu symptoms. Remember that many liquid cold remedies contain alcohol and count as shots of whiskey.
If you use acetaminophen regularly to control pain and use alcohol, keep your dose of acetaminophen as low as possible and moderate your alcohol intake.
The most common complaints reported by those experiencing the acetaminophen-alcohol interaction were nausea, vomiting, abdominal distress or pain. These are very non-specific complaints and are symptoms common to many mild disorders. The only sure way to detect liver toxicity is with a blood test ordered by your doctor.
Heavy drinkers should consult a physician before taking any pain reliever on a regular basis.
Combining heavy drinking with aspirin or ibuprofen (such as Advil) may promote gastrointestinal bleeding. Acetaminophen (such as Tylenol) and heavy drinking may promote liver disease.
Sidney M. Wolfe, Editor, Worst Pills/Best Pills News, 2:3, March 1996, Public Citizen Health Research Group, Washington, D.C.
| Committee & Board Changes |
Peggy Graham, Patti Kohlen, and Susan Warnick complete their terms
on the Board of Directors this year. All three have played key roles
in the founding and development of the VHLFA. We thank them very much
for their excellent service to the VHL Family Alliance, and welcome
their continued participation. We are pleased to welcome a number of
new participants in the running of the VHL Family Alliance. Board elections
will be held at the Annual Meeting in Hawaii.
Melissa Minster, chair of the Delaware Valley Chapter, is nominated
to the Board of Directors. Altheada Johnson is nominated as Chairman
of the Board, replacing Susan Warnick as our Chief Executive Officer.
Joyce Graff is nominated for re-election to the Board and to continue
as Chairman of the Alliance, our Chief Operating Officer.
The Public Relations Committee will be chaired by Micheline Massé
of Arizona. Joining her in that effort is Cary Schwanitz of Texas.
Peggy Graham turns over the reins of the Professional Education Committee
to Donna Russo, genetic counselor at Columbia-Presbyterian Hospital
in New York City.
Susan Warnick will continue as Chair of the Clinical Care Centers Committee.
There are positions open with this committee.
Renée Rosado of California joins us as Vice Chair of the Fund-
Raising Committee, with a focus on supporting research. Melissa
Minster Nominated to the Board
A fourth generation jeweler who has been working in the family business
almost since birth, Melissa is taking the business in a new direction
with a line of Minster Design Jewelry, designed and manufactured on
location. One of her designs is the VHL Teamwork Pin.
In 1995 she joined the Baord of Directors of the Newark branch of the
American Cancer Society. She has served on various committees throughout
the year.
Melissa is the youngest of three siblings diagnosed with VHL, which
was inherited from their father. As a family they have been dealing
with VHL since the 1960’s. Until joining the VHL Family Alliance
they had very few true facts about VHL.
Melissa has been actively involved in the VHL Family Alliance since
joining in 1993. “Working with the VHL Family Alliance has given
us a sense of power and belonging in fighting this disease. With the
increased attention and research focused on von Hippel-Lindau we can
all live longer and healthier happy lives.”
Women and Genetics in Contemporary Society, May 16-19, Zanesville, Ohio. Altheada Johnson represented VHLFA, participating as a presenter on two panels: Cancer Susceptibility and Disability Concerns. The focus of the conference was to control the potential dangers inherent in the discovery and use of genetic information, while taking advantage of the potential benefits of this information. Altheada takes the position that this technology is a good thing, and that with reasonable safeguards we should be able to reap significant benefits.
The Responsibility of Oversight in Genetic Research and Technology Development, May 9-10, Boston, Massachusetts, sponsored by Public Responsibility in Medicine & Research. Joyce Graff represented VHLFA on a panel, What consumers of genetic services expect from the genetics research establishment. She made the point that consumers want to be partners, not “subjects”, in research.
Cancer in Families, 2nd International VHL Symposium, Honolulu, June 17-21, 1996. Dr. Y. Edward Hsia and the Department of Medical Genetics at Kapiolani Hospital in Honolulu and the VHL Family Alliance are co-sponsoring this year’s conference on VHL. We look forward to reporting this exciting program in the September issue.
Workshop ‘97 on MEN2 and VHL. Dr. Cornelis Lips in Utrecht will be sponsoring a Workshop June 25-28, 1997, in Noordwijkerhout, a beautiful congress center near Amsterdam in the Netherlands. The Sixth International Workshop of Multiple Endocrine Neoplasia will next year also include von Hippel-Lindau disease. Delegates are invited from a wide range of disciplines, and there will be some involvement of the family support groups for these two conditions. For more information please contact Cornelis J. M. Lips, M.D., Department of Internal Medicine, University Hospital Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands. Phone +31 (30) 2 509 111; Fax: +31 (30) 2 518 328.
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 |
Click here to find addresses for VHL support organizations in U.S. and other countries
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Further information is available from the VHL Family Alliance, info@vhl.org
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