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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
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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 • 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
DMDHistory • 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 • Clinical • Biochemical • Neurophysiological • Radiological • Genetic • Pathology
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
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 • Necrosis • Regeneration • Fiber variation • Increase fibrous tissue • Increase adipose tissue • Myopathic changes • Specific stains (immuno chemistry) • Dystrophyn • Sarcoglycan, merosin
Genetic • Deletions Xp21 • Intragenic deletions of exons 3, 8, 13, 43, 44, 47, 50, 51 and 52 responsible for 90% of all cases.
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)
2-5 years (Early Ambulation) • Diagnosis • Family education* • Social/psychological support* • Genetic counseling* • Therapeutic interventions • 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- Night/Day • House accessibility • Medical-* • Deflazacort
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
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
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: • 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”
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.”
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.” • “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.”
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.”
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 didn’t want to talk about it.” • “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.” • “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.” • “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.”
