The Process of Giving Meaning: Lessons Learned from the Experience of Parents of a Child with Duchenne Muscular Dystrophy

1
(No Transcript)
2
The Process of Giving Meaning

• Lessons Learned from the Experience of Parents of
  a Child with Duchenne Muscular Dystrophy

October 10, 2006
3
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

4
Investigators

• Pranesh Chakraborty
• Mireille Choquette
• Pierre Jacob
• Sarah Miles
• Andre Samson
• Eva Tomiak

5
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

6
DMD History

• Description by Duchenne in 1861
• -paraplégie hypertrophique de lenfance de cause
  cérébrale
• Natural history Brooke 1981
• DMD gene Worton 1984
• DMD protein, dystrophin (gene product) Hoffman
  1987

7
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

8
DMD Evaluation

• Clinical
• Biochemical
• Neurophysiological
• Radiological
• Genetic
• Pathology

9
Clinical

• Motor delay (proximal)
• 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

10
Gowers manoeuvre
11
(No Transcript)
12
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

13
Neurophysiology

• Nerve conduction studies
• Electromyographic evaluation
• Insertion activity
• Myopathic units
• Increase recruitment

14
Radiological

• Ultrasound
• Muscle MRI/CT

15
Pathology

• Muscle biopsy
• Regular stains
• Necrosis
• Regeneration
• Fiber variation
• Increase fibrous tissue
• Increase adipose tissue
• Myopathic changes
• Specific stains (immuno chemistry)
• Dystrophyn
• Sarcoglycan, merosin

16
Immunocytochemical N
17
Immunocytochemical DMD
18
Genetic

• Deletions Xp21
• Intragenic deletions of exons 3, 8, 13, 43, 44,
  47, 50, 51 and 52 responsible for 90 of all
  cases.

19
Natural History
20
DMD Phases(NMC functional classification)

• Early ambulation ( 2-5 years)
• Late ambulation (6-9 years)
• Early wheelchair (10-13 years)
• Late wheelchair (14 years and older)

21
2-5 years (Early Ambulation)

• Diagnosis
• Family education
• Social/psychological support
• Genetic counseling
• Therapeutic interventions
• Orthopedic
• Respiratory
• Rehabilitation/physiotherapy/OT
• Medical

22
6-9 years (Late Ambulation)

• A Social/psychological support
• Family
• School
• Transportation/teacher aid rephysical/learning

23
6-9 years (Late Ambulation)

• B. Therapeutic interventions
• Orthopedic
• Respiratory-
• Flu vaccine
• Pulmonary function
• Rehabilitation
• Physiotherapy-
• Stretching
• Chest physio
• Occupational therapy-
• Orthotics AFO- Night/Day
• House accessibility
• Medical-
• Deflazacort

24
10-13 years (Early Wheelchair)

• Social/psychological support
• Therapeutic interventions
• Orthopedic-
• Contractures
• Scoliosis
• Respiratory-
• Pulmonary function
• Aids to ventilation
• Rehabilitation-
• Physiotherapy Chest physio, joint mobilization
• Occupational therapy orthoses, wheelchair
• Medical-
• Deflazacort
• Cardiac

25
14-18 years (Late Wheelchair)

• Social/psychological support-
• Therapeutic interventions
• Orthopedic-
• Contractures
• Scoliosis surgery
• Respiratory-
• Assisted ventilation
• Rehabilitation-
• Physiotherapy- Chest physio/mobilization
• Occupationnal therapy-
• equipment adjustment
• Swallowing
• Medical-
• Cardiac

26
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)

27
Medical Therapy

• Side effects
• Weight gain- (up to 20 of initial weight)
• Behavior
• Appetite
• Sleep
• Psychiatric
• Ophthalmologic-cataracts
• Endocrine
• Pituitary
• Bone density

28
Other Therapies

• Medical
• Immunosuppressant
• Azathioprine
• Cyclophosphamide
• Myoblast transfer

29
DMD What should we remember?

• Medical Rx limited results
• Better energy
• Little change in overall disease progress

30
A Clinicians 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.

31
A Clinicians 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.

32
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

33
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

34
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

35
Methods Data Analysis

• Empirical Phenomenological Psychological (EPP)
  data analysis method
• Five stages of analysis

36
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 childs illness openly? How did you
  support each other?
• On reflecting back on your entire experience, do
  you see a purpose in your childs 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?

37
Results

• Gender specific differences in the psychosocial
  adjustment of parents of a child with DMD Two
  points of view for a shared experience

38
Demographic Variables
39
Themes Identified
40
I. Care of the Child
41
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 showerOur whole daily life, our whole
  schedule revolves around K
• We were so immersed and we gave up so much over
  the years
• Im 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

42
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
  dont know exactly what My attitude, yes. My
  attitude changed, but how did it happen, I cant
  explain.
• We understood that we are important in the life
  of J. It is important to be with him.

43
II. Career
44
HER

• I am a mother on a 24 hour basis.. thats 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.

45
HIM

• Only time I can switch off now is when I drive
  six hundred miles away.
• She, she has to stay at home... She is
  full-time here whereas, I get to escape. 
•  The care of J. is difficult. One doesnt 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.

46
III. Social Support
47
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
  buddiesthe hair dresser who comes to my
  housethe baby sitters that weve 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 its good for families to be in touch
  with one another. I know some are open to that
  and some arent, but I really do think its a
  great support group because youre going through
  the same thing and nobody else understands unless
  youre having to do it, right?

48
HIM

• Theres got to be parents going through the
  same, but I see them with their kids and I cant
  really relate to them because they seem to be all
  handling it in different ways.
• Ive 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.

49
IV. Coping Styles
50
HER

• 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 didnt want to talk about it.
• He had his own way of dealing with everything
  that was going onand I think weve developed a
  lot helping each other, talking and I think
  were at a comfortable level as well where were
  happy.
• For me, its day by day. I take things as they
  come I try not to think too far ahead, because
  then I get emotional.
• What happens is that you look too far down the
  road initially because youre just learning and
  you want to be preparedBut then what I found out
  was I didnt need to be ten years down the road
  So, I tried to find a place in the middle where I
  wouldnt be ten years down the road worrying
  about what was going to happen.

51
HIM

• Me, I dont talk a lot. I keep it inside,
  usually Her, she needs to talk to me It helps
  her to understand.
• Theres a spiritual search that has to be
  doneMe, I was working more on that side. Her,
  she looked more on the social side.

52
V. Partner Relationship
53
HER

• I had the impression that he didnt understand
  me, because he wasnt expressing it the same way.
  He seemed to be much stronger than me, when it
  comes to emotion.
• We werent 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 wasnt
  something we talked about together.
• It wasnt 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

54
HIM

• Just too busy with family life to be a couple.
• We talk about what needs to be done, we dont
  talk about what each other needs.
• Its 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 weve reached an
  equilibrium..

55
Discussion
56
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

57
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

58
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

59
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

60
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
• Dont communicate effectively regarding the
  illness
• Dont communicate effectively about the
  existential issues (death, suffering, moral pain)

61
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

62
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?

63
Questionnaire Sample Questions

• 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?

64
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