Educating and Empowering People

I just returned from the 9th International Medical Symposium on von Hippel-Lindau, this year held in Rio de Janeiro, Brazil, hosted by the Brazilian National Cancer Institute (INCA) and chaired by Dr. Jose Claudio Casali da Rocha, head of the Brazilian National Tumor Bank, and co-chaired by Dr. Eric Jonasch, Genito-Urinary Oncologist, M.D. Anderson Cancer Center in Houston, Texas.  We have held a medical symposium every two years beginning 1994, moving it around the world in order to attract participants from various countries.  This year’s meeting was the first ever held in Latin America.

A complete report of this meeting will soon be available on the internet and in the January newsletter.  Meanwhile, let me share a few of the highlights to demonstrate the importance of our efforts to educate and empower patients, families, and physicians in the United States and worldwide.

There were ten of us from VHL families in the U.S. and Europe meeting with 40 patients and family members from Brazil and Argentina.  All of us were struck by the differences in our experiences.  Where the representatives from Europe were healthy people with a few surgeries under their belts, the people from Latin America had been devastated by VHL.  It is only in the last 5-10 years that they have a diagnosis, that they have any idea what is happening in their bodies, or how to protect themselves.

For many, this meeting was their first introduction to how genes work.  Some families felt they were “cursed,” that they “must have done something bad” to have so many medical problems.  Their doctors did not know what to do.  Even once they were told it was VHL, their doctors could find no more than ”two paragraphs in 1400 pages of information about rare diseases.”

You can help inform doctors in the U.S. and worldwide.

That’s where our website comes in.  That’s why our Handbook is so very important.  Available free for download from our website in fourteen different languages, it is the first and most important document for helping families and their local doctors find problems early, and seek the best treatment at the right time. 

We need all our friends to help us fight VHL.  Education is the first step. 
Elena told us the story of her eldest son who has had a series of brain tumors.  No one knew why there was more than one tumor, they thought their family was cursed.  And then he had a spinal tumor, also with no known cause.  Then a young geneticist from Saõ Paulo suggested a DNA test for VHL.  At last there was a name for the condition, but still the doctors didn’t know what to do.  Her other two children were tested for VHL, and both were positive.  Elena was terrified.  But as she met others with VHL, read the Handbook, and sat through the lectures at the Symposium, she began to realize that she and her doctors now have tools to protect her other children.  The family now understands that VHL is not a curse, it’s a genetic alteration, and that everyone on the planet has several genetic alterations. 

You can help people learn their DNA status and how to protect themselves!
Karen in the U.S. was diagnosed with VHL and has been managing her health well for years.  Her brother began to have symptoms that Karen was sure were also VHL.  His doctors discounted her theory and refused to do an MRI, feeling it was not warranted.  His symptoms persisted, and Karen was increasingly certain it was VHL.  They begged for an MRI, but were denied.  Finally he passed out and was taken to the emergency room, where they finally did an MRI – and found multiple tumors in his brain.  Now it was certain it was VHL.  VHLFA worked with this family to empower them to persist in negotiations with the medical system and get to the source of the problem.  “The VHL Family Alliance helped save my brother’s life last year. Thank you! Thank you! Thank you!” -- K.M.

You can empower families!

We distributed copies of the Kids’ Handbook in Spanish to all attendees.  This book was designed for the many children known to have the DNA alteration but who in most cases have not yet had a VHL medical issue.  It helps parents and children have a positive conversation about VHL.  The Spanish translation was done by Dr. Karina Villar from Barcelona, Spain.  Carlos Fredes, the volunteer chairman of our affiliate group in Argentina, has agreed to distribute materials throughout Spanish-speaking Latin America.  Volunteers in our affiliate countries have already produced translations of the Kids’ Handbook in Spanish, German, and French, with Dutch and Portuguese nearing completion.  This gentle introduction to VHL is causing a great deal of excitement.  It is short, colorful, and full of hope.

You can help us enroll children early into preventive screening and keep them healthy!
We distribute information through the Handbook, the Newsletter, the recorded lectures on the website, and through online support communities in English, French, German, Spanish, and Japanese.

The Handbook and Screening Protocol outline for general practitioners how to monitor the health of the patient and find any problems early, when they are likely to be more successfully treated, and to give the family time to assemble the best team to treat the presenting issue.

You can help print and distribute Handbooks!

On Wednesday before the symposium began a group of twelve physicians and consumer advocates from seven countries met to review the Handbook, and especially the screening protocol, to update it with the learning of all countries to make it more effective, more economical, and easier for patients to accomplish in their busy lives.  The suggested revisions will be presented in the January newsletter, and the revised Handbook will be published in 2011. 

You can help continue to improve the clinical guidelines through collaboration!
The first day of the Symposium was devoted to Basic Science, reporting advances by teams across the globe in understanding the series of events that occur in the cell when there is too little VHL protein to suppress tumor growth.  Among these events the researchers are identifying a number of new “molecular targets,” or places where a drug might be used to intervene,  get the cell processes back in order, and stop or shrink the tumor.

You can help continue to fund research projects by young scientists, introducing them to the fascinating study of VHL.

The Symposium was a celebration of the teamwork we have created together – physicians, researchers, and families.  We also need the help of all our friends and supporters to help us fund this work, increasing awareness, making materials and information available in print and on the internet, in multiple languages, and continuing to strengthen and learn from the global community.

You can help maintain the momentum, continue to improve management of VHL, and find a cure!

Thank you!

As printed in the VHL Family Forum 18:4, November 2010. For permission to reprint, please contact VHL Family Alliance, editor@vhl.org. Further information is available from the VHL Family Alliance, info@vhl.org.