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Hope, Strength, Community

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five academic degrees . . . ...we earned an. advanced degree in VHL. Before 1993, we were alone. Each patient knew only his own family ... – PowerPoint PPT presentation

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Title: Hope, Strength, Community


1
Hope, Strength, Community
  • Presentation to
  • VHL Contact Group
  • Manchester, England
  • 9 April 2005

2
Frank, Joyce,and DamonGraff,1976
3
Our Family Tree
4
In addition to five academic degrees . . .
we earned an advanced degree in VHL
5
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.
6
Managing VHL
  • Keep strong
  • Monitor for early detection
  • Get appropriate treatment
  • Keep that glass half full

7
Von Hippel-Lindau (VHL)
  • Tumors may develop in
  • Eyes

8
Von Hippel-Lindau (VHL)
  • Tumors may develop in
  • Eyes
  • Brain or Spine

9
Von Hippel-Lindau (VHL)
  • Tumors may develop in
  • Eyes
  • Brain or Spine
  • Inner Ears

10
Von Hippel-Lindau (VHL)
  • Tumors may develop in
  • Eyes
  • Brain or Spine
  • Inner Ears
  • Both Kidneys

11
Von Hippel-Lindau (VHL)
  • Tumors may develop in
  • Eyes
  • Brain or Spine
  • Inner Ears
  • Both Kidneys
  • Pancreas

12
Von Hippel-Lindau (VHL)
  • Tumors may develop in
  • Eyes
  • Brain or Spine
  • Inner Ears
  • Both Kidneys
  • Pancreas
  • Adrenal Glands

13
Epididymal cystadenomas
  • Occur in up to 50 of men with VHL
  • Are not uncommon in the general population
  • Bilateral cystadenomas are diagnostic of VHL

14
The Broad Ligament in women
  • APMO Adnexal papillary cystadenoma of probable
    mesonephric origin

15
Mesonephric Remnants
16
Mesonephric Remnants
17
Mesonephric Remnants
18
Effects and Treatments
  • Who gets which effects?
  • Why?
  • What to do?
  • Important to learn from ALL families, ALL
    experience, ALL research, worldwide

19
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

20
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.

21
VHL manifestations
22
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!

23
Hormonal changes
  • Adolescence
  • Going on/off the Pill
  • Pregnancy
  • Menopause
  • Male menopause

24
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.

25
Rare Disease Challenge...
26
Role of the CCC
27
Chain of Information
28
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
29
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.

30
VHL Family Alliance Joyce Wilcox
Graff director_at_vhl.org www.vhl.org
31
Questions?
Joyce Wilcox Graff director_at_vhl.org www.vhl.org
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