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Through the looking glass: an exploratory study of the lived experiences and unmet needs of families affected by Von Hippel-Lindau disease.
[von hippel-lindau disease]
Despite
well-established
protocols
for
the
medical
management
of
Von
Hippel-
Lindau
disease
(
VHL
)
,
families
affected
by
this
rare
tumour
syndrome
continue
to
face
numerous
psychological
,
social
,
and
practical
challenges
.
To
our
knowledge
,
this
is
one
of
the
first
qualitative
studies
to
explore
the
psychosocial
difficulties
experienced
by
families
affected
by
VHL
.
A
semi-structured
interview
was
developed
to
explore
patients
'
and
carers
'
experiences
of
VHL
along
several
life
domains
,
including
:
self-identity
and
self-esteem
,
interpersonal
relationships
,
education
and
career
opportunities
,
family
communication
,
physical
health
and
emotional
well-being
,
and
supportive
care
needs
.
Quantitative
measures
were
also
used
to
examine
the
prevalence
of
anxiety
,
depression
,
and
disease-
specific
distress
in
this
sample
.
Participants
were
recruited
via
the
Hereditary
Cancer
Clinic
at
the
Prince
of
Wales
Hospital
in
Sydney
,
Australia
.
A
total
of
23
individual
telephone
interviews
were
conducted
(
15
patients
,
8
carers
)
,
yielding
a
response
rate
of
75
%
.
A
diverse
range
of
experiences
were
reported
,
including
:
sustained
uncertainty
about
future
tumour
development
,
frustration
regarding
the
need
for
lifelong
medical
screening
,
strained
family
relationships
,
difficulties
communicating
with
others
about
VHL
,
perceived
social
isolation
and
limited
career
opportunities
,
financial
and
care-giving
burdens
,
complex
decisions
in
relation
to
childbearing
,
and
difficulties
accessing
expert
medical
and
psychosocial
care
.
Participants
also
provided
examples
of
psychological
growth
and
resilience
,
and
voiced
support
for
continued
efforts
to
improve
supportive
care
services
.
More
sophisticated
systems
for
connecting
VHL
patients
and
their
families
with
holistic
,
empathic
,
and
person-centred
medical
and
psychosocial
care
are
urgently
needed
.
European
Journal
of
Human
Genetics
advance
online
publication
,
2
April
2014
;
doi
:
10
.
1038
/
ejhg
.
2014
.
44
.
Diseases
Validation
Diseases presenting
"and voiced support for continued efforts to improve supportive care services"
symptom
von hippel-lindau disease
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