Living with OPMD:
A Phenomenological Study
Jeanie Krause-Bachand, EdD, MSN, RN BC, York College of Pennsylvania
Wilma Koopman, RN, MScN, ACNP, University of Western Ontario Health Sciences
Shannon Venance, PhD, MD, University of Western Ontario Health Sciences
Abstract
Background
Oculopharyngeal muscular dystrophy
(OPMD) is an autosomal dominant form
of late-onset muscular dystrophy.
Ptosis (droopy eyelids) and dysphagia
(difficulty swallowing) are the most
common presenting symptoms. The
purpose of this phenomenological study
was to describe the experience of living
with OPMD. Purposeful sampling was
used to recruit individuals with OPMD
who display ptosis and dysphagia, were
40 years or older, English-speaking, and
willing to consent to the tape recording
of the interviews. An unstructured
interview format was used to solicit the
participants’ perspective of living with
droopy eyelids, difficulty swallowing,
and a genetic disorder. The interviews
were audio taped and transcribed
verbatim. Data analysis began with the
initiation of the interviews and continued
throughout the data collection phase.
Colaizzi’s Method for analyzing
phenomenological research was used to
allow the themes of the participants’
experiences to emerge and be described.
The literature indicates that Zacharie
Cloutier and Xainte Dupont emigrated to
Quebec in 1634 and introduced OPMD
into their lineage for 11 generations.
Autosomal dominant genetic
transmission is the most common type
and is the exclusive version in the
French-Canadian population. Only one
faulty gene is needed to cause the
disease and an affected parent has a 50
percent chance of passing it on to each
child.. It has been estimated that one in
1,000 people of French-Canadian descent
have the potential to get the disease
because they carry the defective gene. A
Canadian team led by Dr. Guy Rouleau a
geneticist at McGill University and
Montreal General Hospital discovered the
OPMD gene in1998. The gene makes a
protein called nuclear poly (A)-binding
protein 1, known as PABPN1 located on
chromosome 14q.
Autosomal Dominant
Sample:
Purposeful sampling was used to select
participants for this study based on
personal knowledge related to living with
OPMD. Participants were enrolled into
the study until data saturation occurred.
Setting:
Participants were recruited from a
Neuromuscular Clinic in central Canada
that serves a population of approximately
40 persons diagnosed with OPMD. The
individuals were contacted by phone,
asked to participate, and if they agree
were scheduled for an interview. The
interviews were conducted either in the
individual’s home or in a small, private
conference room at the clinic.
Demographics:
n=10
Male
Female
5
5
Age diagnosed with OPMD:
Minimum
Maximum
Mean & Mode
42
69
54.5
Age onset ptosis:
Purpose
The purpose of this research study was
to describe the experience of living with
OPMD from the participant’s
perspective.
Research Design
Phenomenology, a qualitative research
tradition, was used to describe the
experience of living with OPMD.
Phenomenology uncovers the meaning
of a human experience and describes the
meaning of the experience through
narration.
Findings
What is the experience of having droopy
eyelids?
“Chin up – shoulders back”
“Because you are looking out from
underneath your eyelids, you tend to raise
your chin.”
“Friends and family”
“I eat before I go out with my friends”.
Minimum 49
Maximum 73
Mean
62.9
An extensive literature review was
conducted using CINAHL, Ebscohost,
and Medline. The terms ptosis, droopy
eyelids, dysphagia, difficulty swallowing,
and genetic disorders were used in
conjunction with quality of life and
experience. The literature review
indicated that relatively little is known
about the experience of having droopy
eyelids, dysphagia, and a genetic
disorder. The impact of these
phenomena in the OPMD population has
not been previously studied. This
phenomenological study was aimed at
building the knowledge base related to
living with OPMD specifically in the
French-Canadian population.
The interviews were audio transcribed
verbatim. The co-investigators
independently read and reread the
transcripts to allow the themes of the
participant’s experience to emerge from
the data. Colaizzi’s Method for analyzing
phenomenological research was used to
analyze the data:
What is the experience of having difficulty
swallowing?
Age:
Significance
Data Analysis
“Things are not always what they seem”
“People would ask if I was tired or even
once if I was intoxicated”.
Gender:
Problem
Oculopharyngeal muscular dystrophy
(OPMD) is an autosomal dominant form of
adult, onset, progressive muscular
dystrophy. Individuals with OPMD usually
become symptomatic between the ages of
40 to 60 years of age. The symptoms are
progressive and at the present time the
only treatment is supportive. Ptosis is the
most common presenting symptom with
100% of reported cases noted with an
onset over 60 years of age. The ptosis
becomes problematic because individuals
lose part of their visual field. Dysphagia is
seen in some degree in 100% of the cases.
It may become debilitating because of
pooling of secretions in the nasopharynx
which can result in severe aspiration.
Dysphonia is seen in 50% of the cases.
Proximal limb weakness occurs later and
is mostly in the lower extremities and
about 10% of individuals become
wheelchair-bound.
Setting, and Sample
Minimum
Maximum
Mean
30
60
50.2
Ancestry:
French-Canadian
English
German
Russian
What is the experience of having a genetic
disease?
“Different strokes for different folks”
“It was hard telling my four children.
They all want to be tested.”
42
60
51.7
Age onset dysphagia:
Minimum
Maximum
Mean
“What does the future hold?”
“One of my other fears is who will help
me in the future; puree the food or assist
with the feeding tube?”
4
1
4
1
Data Collection
An unstructured interview format was
used to provide greater latitude in
answering the questions. The interviews
were conducted by one of the coinvestigators both who have previous
experience conducting qualitative
research studies . Privacy,
confidentiality, and anonymity were
maintained throughout all phases of the
study.
The research questions were:
 What is the experience of having
droopy eyelids?
 What is the experience of having
difficulty swallowing?
 What is the experience of having a
genetic disease?
Conclusions
Many of the people who are living with
OPMD felt that there were negative
aspects to their lives related to having this
disease. Both physiological and
psychosocial stressors were common in
their daily lives. Their hopes focused on
maintaining their health and well-being as
long as possible. There were mixed
emotions and feelings regarding knowing
that they had a genetic disease that has
been or could be transmitted to their
children. The findings of this study
indicate that healthcare workers need to
understand what it means to live with
OPMD and how it affects the person’s life.
They need to offer support with how to
manage both the physiological and the
psychosocial burdens of this experience.
Acknowledgements
We would like to acknowledge support
from the Canadian Association of
Neuroscience Nurses as recipients of the
Marlene Reimer Research Award for 2007.
Thank you to Deborah Barton, MSN, RN,
Laboratory Coordinator at YCP, for her
guidance and assistance