Presentation on theme: "Duchenne Muscular Dystrophy in Adults"— Presentation transcript:
1Duchenne Muscular Dystrophy in Adults Dr Emma HusbandsConsultant Palliative MedicineGHNHSFT
2Overview of DuchenneIssues in transitionWhat can adult Pall Care offer?
3Muscular dystrophiesGroup of muscle diseases characterized by progressive weakness, defects in muscle proteins, and the death of muscle cells1860’s Guillaume Duchenne described boys who grew progressively weaker and died in their teens.Named after himIt soon became evident that the disease had more than one form.Now over 50
5DMD Facts DMD affects mostly males at a rate of 1 in 3,500 births. 100 boys w/ DMD are born in the United Kingdom each year.There are about 1500 known boys w/ the disorder living in the UK at one time.60% inheritedX-linked recessive1/3 have family history30% spontaneous mutationMost severe and common type of muscular dystrophy.
6DMD is characterized by the wasting away of muscles. Due to deficiency of the muscle protein DystrophinDiagnosis in boys usually occurs between 16 months and 8 years.Parents are usually the first to notice problem.Without intervention, average age survival 19yrsImproved use of respiratory support can see survival into 40’sThis presentation will discuss a form of muscular dystrophy called Duchenne muscular dystrophy. Duchenne muscular dystrophy is a genetic or hereditary muscle condition; characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.In DMD, absence of the dystrophin protein weakens the connections between all of the proteins in the muscle and the cell membrane. Eventually the cell membrane becomes weaker and ruptures. As a result, particles, such as calcium, can move in and out of the ruptured cell membrane. As calcium moves into the muscle cell, it will cause contraction at the damaged site and muscle fibers will break. When this is severe enough, the muscle will begin to waste away. (1)
7Clinical FeaturesIncrease in serum CK (creatine phosphokinase) levels up to 10 times normal amounts.Wheelchair bound by 12 years of age.Scoliosis commonCardiomyopathy at years.Respiratory problems lates teens onwardsScoliosis may exacerbate this
9Problems for Adults Cramps/spasticity Respiratory problems Magnesium supplements/quinine/G&TRespiratory problemsLikely on NIPPV or approaching itPotential consideration for trachae – implications for careCardiac arrhythmiasContinue ACE-Inhibitors/Beta BlockersSwallowing difficultiesMay have/need PEGCould try prokinetics
10Increased incidence of mental health issues Low mood/depressionAnger/frustrationDesire for normalityLearning difficulties in 5% of patients.Verbal memory can be impaired, possibly exacerbated by hypercapnoeaDisengagement with medical services by families is not uncommon
11Warrant a holistic approach Family pressuresCare often falls to parentsYoung men may want/struggle to achieve independenceLife will be limitedWarrant a holistic approach
12With increasing survivorship, now entering adulthood and less practical to remain under paeds servicesCan be a sense of abandonment when entering the adult healthcare word……One paediatrician their whole life
13Why Get Us Involved?Neurology support often time-limited and possibly regionalLocally, we can provide a specialist link which can react as neededCondition remains life-limitingjust a bit less limiting than beforePractical care needsRespite services are lostSupportive care needs……………PatientFamilyAdvance care planning needs……
14J17yrs old DMDAdmitted to adult resp ward with chest infection, type 2 resp failureAlso c/o reflux/nausea/constipationOften missed OPA’s as a kidKnown LV dysfunction, non compliant with ACE -InhibitorsReferral from team to explore discharge planning
15On ward, family present 24/7 Parents clear on admission, J present Do not want active intervention – requested DNACPR, no to ICUPaeds cons popped to say hello to patient on their ownJ not sure about DNACPR – paeds cons revoked and suggested discussion held – left that to us!!!!!!WHO’s CHOICE?WHAT CHOICE?
17THE ICPCN CHARTER OF RIGHTS FOR LIFE LIMITED AND LIFE THREATENED CHILDREN The child’s parents or legal guardians shall be acknowledged as the primary care givers and recognised as full partners in all care and decisions involving their child.Every child shall be encouraged to participate in decisions affecting his or her care, according to age and understanding.The child and the family shall be given the opportunity to consult with a paediatric specialist with particular knowledge of the child’s condition where possible, and shall remain under the care of a paediatrician or doctor with paediatric knowledge and experience.
18The child and the family shall be entitled to a named and accessible key-worker whose task it is to build, co-ordinate and maintain appropriate support systems which should include a multi-disciplinary care team and appropriate community resources.The child’s home shall remain the centre of care whenever possible. Treatment outside of this home shall be in a child-centred environment by staff and volunteers, trained in palliative care of children.Every child and family member, including siblings, shall receive culturally appropriate, clinical, emotional, psychosocial and spiritual support in order to meet their particular needs. Bereavement support for the child’s family shall be available for as long as it is required.
19ACP in Transitional Population Parents will protect their childrenHard for them, they may be used to being in controlReality checks over what is on offerYoung people with MD have different life experienceAnd remember they are teenagersWant ‘normality’ and independenceSex and drugs and rock and rollFears they cannot mention to parentsMeeting young adults in a crisis is not greatConstant discussions/building relationships
20Patients rarely wished to discuss the later stages of their disease. Analysis of an adult Duchenne muscular dystrophy population A.E. PARKER1, S.A. ROBB, J. CHAMBERS, A.C et al. Q J Med 2005; 98:729–736Patients rarely wished to discuss the later stages of their disease.Death was often more precipitate than expectedIn some, there was a clear progressive deterioration of ventilatory function.Death usually occurred outside hospital.
21J CPR was medically not indicated given reserves and overall decline The outstanding issue was option for trachaeAgreed J would not want to ‘wake-up’ with a trachae on ICUDid not rule out option for planned procedureWe also tweeked his medsErythromycin 250mg bd for gastric prokinesis to aid reflux and bowelsPRN oramorph, buccal midazolamParenteral meds available
22Settled period of several months Went home with NIPPVACP in place, OOH alerts, anticipatory medsAt college so needed liaison with themSettled period of several monthsOne DV, t/c f/uCase conference at college due to absencesNo admissionsThen acute decline, mum felt J dying, paeds hospice team supported, happy for me to review, arranged but died day before seen peacefully at home, on NIPPV.
23Remove NIPPV Sudden death common If the norm for patient does it matter to die on NIPPV?Not routine to discuss planned discontinuationIf request to removePlanEnsure adequate sedation to avoid distressLikely IV, pall med team might be able to help with this is community
24Had been a late diagnosis C22yr old DMDHad been a late diagnosisfamily felt they had always done the leg-workParents very wary of our involvementMinimal symptomsMain issuesKeen to do stuffLinking in with Douglas HouseShould he exercise? If so where/how?Would be happy for hospital admission if needed but pleased with reviews at home
25Becoming an adult http://www. bristol. ac Qualitative study focussing on what it’s like to live with Duchenne and become an adult.Interviews throughout 2007 and 2008, involved 40 young men aged 15 to 33 who have Duchenne (and their families) from three regions of England – West Midlands, South West and North East.
26Living with Duchenne can be a hard thing to talk about. “In everyday life I don’t think about it much.”“Sometimes you talk about it and sometimes you don’t. I’m not bothered about talking about it though.”“I live with it everyday. I know what I need to know. I’m not really interested.”When people did want to talk about it, they usually talked to parents or friends but it wasn’t always easy. Some people said it was hard to talk to their parents because they wanted to protect them; they didn’t want their parents to get upset.
27“I said I didn’t want to see lots of different doctors all the time “I said I didn’t want to see lots of different doctors all the time. The last thing I want is seeing a load of doctors who depress me with bad news! But I thought I’d better see someone, so I asked who would be the most use and I went for the respiratory consultant.”“You need continuity and you need a person who you can be friends with before you’re going to tell them things.”
28(Soanes & Timmons, 2004; ACT et al, 2001). Young people need:continuity and familiarityto be prepared for changeany new service to be flexible and account for individualitygood quality support along with staff showing that they care (with kindness, or understanding, for example).(Soanes & Timmons, 2004; ACT et al, 2001).
29C Explained what advance care planning is but not covered it Put in touch with specialist OTFound some ‘adventure’ holiday optionscontact givenReviewing 3mthly
30What I have learnt so far….. One size will not fit allIf verbal processing is difficult, we may need to alter formats of discussion.Not simply young adultsDifferent life experienceFamilies cannot be removedBuilding a rapport is often keyParents add another dimension!
31As ever, emphasis on education around what our role isReferral may be for advance care planning but this may not be what is needed/addressedaround the advances in Duchene for adult physicians
32Joint clinics with paeds? Community aspect of our role helpsNeuromuscular co-ordinators invaluableSpecialised commissioning will hopefully improve access to cough assist etcMDT working – what we do best!