Rare Diseases Symptoms Automatic Extraction
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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
"anxiety"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenal incidentaloma
adrenomyeloneuropathy
cadasil
child syndrome
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cutaneous mastocytosis
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hereditary cerebral hemorrhage with amyloidosis
junctional epidermolysis bullosa
locked-in syndrome
monosomy 21
oligodontia
oral submucous fibrosis
phenylketonuria
von hippel-lindau disease
x-linked adrenoleukodystrophy
This symptom has already been validated