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? (yes/no)

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       ___   No    If Yes, How many children? _____

Do you have other relatives affected by VHL?

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: __________________________

Which of the following medical issues have you experienced?

What is the current status of your vision?

What is the current state of your hearing?

Which of the following have you experienced? (add paper as needed to describe)

Women only (men please skip to Other Issues below):

How many children have you had?

    ____ number of pregnancies

    ____ number of live births

In VHL there are benign tumors that can occur in the reproductive organs, which are very difficult to diagnose.  Have you ever been told you had a lesion, tumor, or mass in any of the following areas?  If so, what action was taken if any?

Other Issues:

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.

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?)    ___ Other anti-angiogenic drug (which?)

_______________________________________________________________________________________

Conventional radiation therapy? Where?

________________________________________________________________________________________________

Other ________________________________________________________________________________________

What was the goal of the treatment?

________________________________________________________________________________________________

When and for how long did you undergo this treatment? (or write "continuing" if you are still undergoing this treatment)

____________________________________________________________________________________

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 others?______________________________________________________________

_______________________________________________________________________________________

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
Research Committee
2001 Beacon St, Suite 208
Boston, MA 02135-7787 USA
617-277-5667, Fax: 858-712-8712