Transcript The Process of Giving Meaning: Lessons Learned from the

The Process of Giving
Meaning
Lessons Learned from the Experience
of Parents of a Child with Duchenne
Muscular Dystrophy
October 10, 2006
Objectives
• To present the rationale for a qualitative study
of the experience of meaning in the parents of
a child with DMD
• To summarize the results of the study
• To reflect upon the lessons learned in designing
and carrying out the study
• To introduce the design of a followup
multicentre study to study the experience of
hope in the same families
Investigators
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Pranesh Chakraborty
Mireille Choquette
Pierre Jacob
Sarah Miles
Andre Samson
Eva Tomiak
Background
• DMD 1/3500 male births
• Mutation in X linked DMD gene, leading to
lack of the protein, dystrophin
• 1/3 mutations are de novo
• Progressive and incurable neuromuscular
disease
DMD History
• Description by Duchenne in 1861
-paraplégie hypertrophique de l’enfance de cause
cérébrale
• Natural history: Brooke 1981
• DMD gene: Worton 1984
• DMD protein, dystrophin (gene product) :
Hoffman 1987
DMD: Clinical Presentation
• Duchenne initial description:
– Progressive weakness of movements, initially
affecting the muscles of the lower limbs and lower
spine, gradually getting worse and spreading to the
upper limbs.
– Enlargement of some of the paralysed muscles and
in some cases almost all.
– Hyperplasia of interstitial connective tissue in the
paralysed muscle with production of abundant
fibrous and adipose tissue in the final stages
DMD Evaluation
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Clinical
Biochemical
Neurophysiological
Radiological
Genetic
Pathology
Clinical
• Motor delay (proximal)
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Delay walking
Difficulty standing
Difficulty with stairs*
Positive Gowers’ manoeuvre
• Cognitive delay (80%)
– ADD/ADHD
• Muscle hypertrophy
– Calves, thighs, forearm, masseters, temporalis
• Cardiomyopathy and respiratory weakness
Gowers’ manoeuvre
Biochemical
• Elevated CK
– 50-100 x Normal
• N:
0-1 month 30-400 U/L
- 50-300 U/L
• DMD: usually well over 5000 U/L
• Will be elevated on day 1 of life
• Higher in the preclinical phase and deceases afterward as
muscle mass decreases
• Elevated
– AST, ALT, Aldolase
Neurophysiology
• Nerve conduction studies
• Electromyographic evaluation
– Insertion activity
– Myopathic units
– Increase recruitment
Radiological
• Ultrasound
• Muscle MRI/CT
Pathology
• Muscle biopsy
– Regular stains
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Necrosis
Regeneration
Fiber variation
Increase fibrous tissue
Increase adipose tissue
Myopathic changes
– Specific stains (immuno chemistry)
• Dystrophyn
• Sarcoglycan, merosin
Immunocytochemical: N
Immunocytochemical: DMD
Genetic
• Deletions Xp21
• Intragenic deletions of exons 3, 8, 13, 43, 44,
47, 50, 51 and 52 responsible for 90% of all
cases.
Natural History
DMD Phases
(NMC functional classification)
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Early ambulation ( 2-5 years)
Late ambulation (6-9 years)
Early wheelchair (10-13 years)
Late wheelchair (14 years and older)
2-5 years (Early Ambulation)
• Diagnosis
– Family education*
– Social/psychological support*
– Genetic counseling*
• Therapeutic interventions
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Orthopedic
Respiratory
Rehabilitation/physiotherapy*/OT
Medical
6-9 years (Late Ambulation)
A: Social/psychological support*
• Family
• School
• Transportation/teacher aid re:physical/learning
6-9 years (Late Ambulation)
• B. Therapeutic interventions
– Orthopedic
– Respiratory• Flu vaccine
• Pulmonary function
– Rehabilitation
• Physiotherapy-*
– Stretching
– Chest physio
• Occupational therapy-*
– Orthotics AFO– House accessibility
– Medical-*
• Deflazacort
Night/Day
10-13 years (Early Wheelchair)
A. Social/psychological support
B. Therapeutic interventions
– Orthopedic-*
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Respiratory-*
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Pulmonary function
Aids to ventilation
Rehabilitation-*
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Contractures
Scoliosis**
Physiotherapy*: Chest physio, joint mobilization
Occupational therapy*: orthoses, wheelchair
Medical•
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Deflazacort
Cardiac
14-18 years (Late Wheelchair)
A. Social/psychological support-*
B. Therapeutic interventions:
– Orthopedic-*
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Respiratory-*
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Contractures*
Scoliosis surgery**
Assisted ventilation
Rehabilitation-*
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Physiotherapy- Chest physio/mobilization
Occupationnal therapy–
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equipment adjustment
Swallowing
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Cardiac
Medical therapy
• Prednisone
– Definite improvement over placebo
• 0.3mg/kg/day
• 0.75/kg/day
– Improvement as early as 10 days which
continued to improve over 1 month
– Plateau that persisted for 6 months
– Group at 0.75mg/kg/day better than
0.3mg/kg3day but more side effects (wt gain,
cushingoid, hair growth)
Medical Therapy
• Side effects:
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Weight gain- (up to 20% of initial weight)
Behavior
Appetite
Sleep
Psychiatric
Ophthalmologic-cataracts
Endocrine
• Pituitary
• Bone density
Other Therapies
• Medical:
– Immunosuppressant
• Azathioprine
• Cyclophosphamide
– Myoblast transfer
DMD: What should we remember?
• Medical Rx: limited results
– Better energy
– Little change in overall disease progress
A Clinician’s Perspective (1)
• “Since we do not yet have a satisfactory treatment
for this disease, we are confined to trying to provide
as much support for the patients and families as
possible… There is a wise French aphorism that
sums up what we, as physicians, must do for our
patients: Guerir quelquefois, soulager souvent,
consoler toujours. Since, in this disease, we are not
able to cure, we must be able to assuage symptoms
as far as possible and help the family deal with both
the prolonged agony of watching their child
deteriorate in front of them as well as the inevitable
loss of that child.”
A Clinician’s Perspective (2)
• “While no family can emerge from the process of
caring for a child with a fatal disease unscathed, some
families manage better than others. If we can find a way
to measure how the more successful families cope with
the process, these approaches and emotional attitudes
can hopefully be taught to families that are coping less
well. Trying to identify how parents find hope to keep
going and, as far as possible, accurately describe this
process, would be an important step.”
Study Design
• Qualitative study of couples having a child living
with DMD
• Description of the lived experience
• Semi-structured interviews with 11 parents
• Mothers and fathers interviewed separately
• Interviews recorded and transcribed
• Average length of interview 90 minutes
Methods: Choice of Methodology(1)
• Methodology research models: Deductive,
quantitative, inductive, or qualitative
• The hypothetical-deductive paradigm is based
on the premise that an independent, objective
reality exists outside the individual
• This reality can be observed, measured and
explained
• Research aims to identify cause and effect, from
which universal laws can be deduced
Methods: Choice of Methodology (2)
• The holistic-inductive paradigm is characterized
by the recognition of the subjective nature of
reality
• Reality is viewed as a construct of the individual
based on emotions, values and culture
• The objective of research is to understand the
significance to the individual of a particular lived
experience
Methods: Data Analysis
• Empirical Phenomenological Psychological
(EPP) data analysis method
• Five stages of analysis
Questionnaire: Sample Questions
• “When you were first given the diagnosis of DMD for your
child, what was your first reaction?”
• “How did you make sense of what was happening at the time of
diagnosis? In other words, did you see a purpose in that
experience?”
• “As a couple, how did it affect you? Did you discuss your child’s
illness openly? How did you support each other?”
• “On reflecting back on your entire experience, do you see a
purpose in your child’s illness? In other words, how did it impact
you as a human being: The way you see others? The way you see
your family? Your own spiritual growth? The way you see life in
general?”
Results
“Gender specific differences in the psychosocial
adjustment of parents of a child with DMD: Two
points of view for a shared experience”
Demographic Variables
Current age
Age at child’s diagnosis
Identified as primary caregiver
Viewed caregiving as equally
shared
College or university
Working outside home
Carrier of genetic change
Mothers
Fathers
40-49 (40.5)
31-41(32.5)
2/6
3/6
44-58(47)
34-52(40)
0/6
4/5
4/6
3/6
2/6
5/5
4/5
N/A
Themes Identified
I. Care of the Child
II. Career
III. Social Support
IV. Coping Styles
V. Partner Relationship
I. Care of the Child
HER
• “A lot revolves around K. I have to be there in the morning.
I have to help her get dressed. I have to feed her breakfast.
I have to help her after the shower…Our whole daily life,
our whole schedule revolves around K…”
• “We were so immersed and we gave up so much over the
years…”
• “I’m more gentle with him, pay more attention to his
needs”
• “J. prefers that Mama takes care of him at certain times,
because Papa is less patient”
HIM
• “I had the chance to spend time with him, to tease
him, to put him to bed. Then he began to laugh at
me, he found me funny… It was after that that I
realized that something had changed. I don’t know
exactly what… My attitude, yes. My attitude
changed, but how did it happen, I can’t explain.”
• “We understood that we are important in the life
of J. It is important to be with him.”
II. Career
HER
• “I am a mother on a 24 hour basis.. that’s
my work.”
• “I think that once the diagnosis came, then
you kind of put everything on hold for a
long period of time.”
• “There still seems to be a lack of respect for
the title as a mother.”
HIM
• “Only time I can switch off now is when I drive six
hundred miles away.”
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“She, she has to stay at home... She is full-time here…
whereas, I get to escape. ”
• “ The care of J. is difficult. One doesn’t take it into
consideration, but his care puts an extra weight on my
shoulders. ”
• “The career is not a priority for me. I have to think about
many other things apart from career.”
III. Social Support
HER
• “When I think about the people who impact my life and
give me the most pleasure and enjoyment, and are the most
helpful to me, they are the physiotherapist, who became a
close friend, the massage therapist and I who are like best
buddies…the hair dresser who comes to my house…the
baby sitters that we’ve had who come by in the summer and
take her out for no reason.. my girlfriends who will come by
just drop in, and say Hi..”
• “I think it’s good for families to be in touch with one
another. I know some are open to that and some aren’t, but
I really do think it’s a great support group because you’re
going through the same thing and nobody else understands
unless you’re having to do it, right? “
HIM
• “There’s got to be parents going through the
same, but I see them with their kids and I can’t
really relate to them because they seem to be all
handling it in different ways.”
• “I’ve always been nervous that how could anybody
possibly understand?....”
• “No, it was a bunch of women, it was all women. I
was the only man.”
IV. Coping Styles
HER
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“Husband and wife deal very differently. I find that I had a lot of support from
friends and family and wanted to talk about it. My husband was more
withdrawn and kind of internalized things and didn’t want to talk about it.”
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“He had his own way of dealing with everything that was going on…and I
think we’ve developed a lot helping each other, talking… and I think we’re at a
comfortable level as well where we’re happy.”
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“For me, it’s day by day. I take things as they come… I try not to think too far
ahead, because then I get emotional.”
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“What happens is that you look too far down the road initially because you’re
just learning and you want to be prepared…But then what I found out was I
didn’t need to be ten years down the road… So, I tried to find a place in the
middle where I wouldn’t be ten years down the road worrying about what was
going to happen.”
HIM
• “Me, I don’t talk a lot. I keep it inside,
usually… Her, she needs to talk to me… It
helps her to understand.”
• “There’s a spiritual search that has to be
done…Me, I was working more on that side.
Her, she looked more on the social side.”
V. Partner Relationship
HER
• “I had the impression that he didn’t understand me, because he wasn’t
expressing it the same way. He seemed to be much stronger than me,
when it comes to emotion.”
• “We weren’t good supporters for one another because it was hurtful for
us to talk together about it so we kind of separated on it for a bit and
were still there to look after the needs of everybody else and ourselves,
but it wasn’t something we talked about together.”
• “It wasn’t something that we openly talked about. It was put in the box
on a shelf and we dealt with it when we had to come to CHEO.”
•
“I think that J. feels OK because he sees we are doing OK”
HIM
• “Just too busy with family life to be a couple.”
• “We talk about what needs to be done, we don’t talk about what each
other needs.”
• “It’s more guesswork now, trying to guess what the other one….”
• “We always had problems… but we learned with time how to
communicate… it took time.. Today it is going well. I would say that
now, the illness brings us together”
• “It has enriched our relationship. I see my spouse through others,
through the children. I see her interacting with the children. I see that
she has changed over the years. She has adapted. I too have adapted. So
we’ve reached an equilibrium..”
Discussion
Results (1)
• The unique contribution of our study is its
attention to the internal dynamic of the
relationship between mothers and fathers
• The dynamic is highly dependent on the
respective roles of primary and secondary
caregiver
• Caregiving tasks are not equally shared, but are
divided, primarily on the base of role
• Traditional sterotypes appear to be regenerated
Results (2)
• There are important differences in coping styles
between mothers and fathers
• These differences may be perceived as a threat,
and may serve as a source of isolation between
partners
• Dialogue appears to be the key necessary to find
the desired equilibrium where gender differences
exist
Results (3)
• Despite our current multitidisciplinary team
management approach, the current medical
model does not optimally address the support
required by parents
• Couple base counselling
• Discussion of adaptive tasks faced by individuals
coping with chronic illness
• Communication skills
• Practical help for caring for the child
Limits of the Study
• Majority of mothers held traditional role (one
stay at home Dad)
• Two families with child with DMD adopted into
family
• Parents had on average 8 years of experience in
caring for the child with DMD
Lessons Learned
• 1) Difficulty in recruiting fathers
• 2) Reflection on the experience: Possible impact
of the burden of the day to day care of the
child
• 3) Communication and isolation between
members of the couple:
– Don’t communicate effectively regarding the illness
– Don’t communicate effectively about the existential
issues (death, suffering, moral pain)
Future Study
• “The experience of hope in the psychosocial
adaptation of parents of a child with Duchenne
Muscular Dystrophy”
• Collaboration with Bloorview Kids Rehab
• 20 parents at each centre
• 4 phases
• CHEO Research Institute funding application October
1, 2006
• CHEO REB October 17, 2006
Objectives of Study
• Primary Objective: To describe what hope brings to
the experience of living with a child with Duchenne
muscular dystrophy, and to describe the main sources
of hope in the day to day experience of the illness.
• Secondary Objectives:
– To describe the nature of hope as the disease progresses
– To determine if the experience of hope is different
depending on the medical context in which the family finds
itself. That is, is the experience of hope different between
families where the philosophy of treatment is more
aggressive (and may include experimental treatment) and
those families treated in a medical context where treatment is
seen as palliative in intent?
Questionnaire: Sample Questions
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“At the time of the diagnosis, could you
describe, what hope meant for you? What were
you hoping for yourself ? For your child? For
your family?”
“Could you describe for me one or two events,
or a moment, or an experience, or receiving
news, that was for you, a source of hope?”
“Today, what is your main source of hope?”
Acknowledgements
• Department of Genetics
• Co-investigators
• CHEO Research Institute and Faculty of
Education, U of Ottawa
• Dr. Mario Cappelli and Linda Corsini
• Parents of children with DMD