Hope, Strength, Community

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Hope, Strength, Community

• Presentation to
• VHL Contact Group
• Manchester, England
• 9 April 2005

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Frank, Joyce,and DamonGraff,1976
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Our Family Tree
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In addition to five academic degrees . . .
we earned an advanced degree in VHL
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Before 1993, we were alone

• Each patient knew only his own family
• Most of the articles were case studies of one
  patient
• We needed to see the whole picture

Blind Men Study the Elephant artist Liu
Zhangde granite Wuhan 1985.
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Managing VHL

• Keep strong
• Monitor for early detection
• Get appropriate treatment
• Keep that glass half full

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Von Hippel-Lindau (VHL)

• Tumors may develop in
• Eyes

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Von Hippel-Lindau (VHL)

• Tumors may develop in
• Eyes
• Brain or Spine

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Von Hippel-Lindau (VHL)

• Tumors may develop in
• Eyes
• Brain or Spine
• Inner Ears

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Von Hippel-Lindau (VHL)

• Tumors may develop in
• Eyes
• Brain or Spine
• Inner Ears
• Both Kidneys

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Von Hippel-Lindau (VHL)

• Tumors may develop in
• Eyes
• Brain or Spine
• Inner Ears
• Both Kidneys
• Pancreas

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Von Hippel-Lindau (VHL)

• Tumors may develop in
• Eyes
• Brain or Spine
• Inner Ears
• Both Kidneys
• Pancreas
• Adrenal Glands

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Epididymal cystadenomas

• Occur in up to 50 of men with VHL
• Are not uncommon in the general population
• Bilateral cystadenomas are diagnostic of VHL

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The Broad Ligament in women

• APMO Adnexal papillary cystadenoma of probable
  mesonephric origin

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Mesonephric Remnants
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Mesonephric Remnants
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Mesonephric Remnants
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Effects and Treatments

• Who gets which effects?
• Why?
• What to do?
• Important to learn from ALL families, ALL
  experience, ALL research, worldwide

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ELSTEndolymphatic Sac Tumor

• We began sharing family information in 1993
• The families observed hearing issues with VHL
• We reported this to the doctors in 1994
• The U.S. National Institutes of Health (NIH)
  conducted a study to evaluate this observation.
• In 1996 the NIH published a study on diagnosing
  and treating ELST

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Understanding the Cause

• Case studies are not enough
• Large family pedigrees
• National registries and large studies
• Finding the gene in 1993
• Collecting data on genotypes
• 1996, Hawaii, agreement to collect genotype data
• and to begin to understand genotype/phenotype
  relationship
• leading us to better understanding of the
  chemical cause and effect of pheo, kidney cancer,
  etc.

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VHL manifestations
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Screening children

• Check eyes from age 1
• Tell the pediatrician there is VHL in the family
• Watch for signs of pheo and neurological
  disturbance
• Avoid radiation unless there is need for in-depth
  studies
• Have fun!

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Hormonal changes

• Adolescence
• Going on/off the Pill
• Pregnancy
• Menopause
• Male menopause

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Concerns in Pregnancy

• Know your status going in
• Check for a pheo
• Blood volume will double
• Pressure on lower spine will increase
• Load on the kidneys will increase
• Make sure you team is communicating
• Monitor for any signs of pheo
• Check Mama when baby is 6 months.

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Rare Disease Challenge...
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Role of the CCC
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Chain of Information
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Going Global

• Seeking better ways of treating
• Seeking better ways of managing
• Different medical cultures
• Different health care systems

Leaders from Croatia, Germany, Holland, Italy,
Spain, Sweden
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The Take-Away Message

• Everyone has two copies of the VHL gene (two
  alleles)
• People with the condition VHL have one copy that
  doesnt work right.
• BUT the second copy does work and provides
  sufficient pVHL to suppress tumors.
• You can change the odds by keeping that second
  copy strong.

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VHL Family Alliance Joyce Wilcox
Graff director_at_vhl.org www.vhl.org
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Questions?
Joyce Wilcox Graff director_at_vhl.org www.vhl.org