Palliative Care in Neuromuscular Disease

1. Colleen O’Connell, MD FRCPC Assistant Professor, Dalhousie University Research Chief Stan Cassidy Centre for Rehabilitation Palliative Care in Neuromuscular Disease

2. Objectives Participants will: • understand the principles of prospective care as they apply to neuromuscular diseases • identify important strategies for improving function and quality of life for patients with neuromuscular disease • apply a management approach to end of life care in persons with neuromuscular diseases

3. Mrs. A – referred for Hospice Care • 58 year woman, living with ALS for 3 years • Gastrostomy tube for most nutrition • Bilevel-PAP at night; intermittent daytime • Total assist for personal care and mobility • Communicates by letter board and eye gaze • Family struggling to meet needs at home

4. Understanding ALS Pathophysiology, Progression and Prospective Care

5. What is Amyotrophic Lateral Sclerosis • ALS is a rapidly progressive neuromuscular disease; part of the family of motor neuron diseases. • Affects both upper and lower motor neurons = Motor Neuron Disease

6. Who has ALS? • One of the most common neuromuscular diseases • 2000 new diagnoses each year in Canada • 4-10/100,000 prevalence in Canada • Average age 58 at diagnosis; most common 40-60, some reports in teens-30s • 1.4:1.0 male:female • Appears to be more in last 20 years

8. What happens to people with ALS • Upper motor neuron: • Weakness • Spasticity, brisk reflexes-hyperreflexia • Emotional lability • Loss skill in fine movements – dexterity • Slowed movement • Lower motor neuron: • Atrophy – muscle wasting • Weakness • Hyporeflexia • Muscle cramps • Fasciculations

9. ALS : a syndrome • Clinical evidence • Increasing age-related mortality rates • Variability in survival rates • Familial variants • Frontotemporal syndromes (Cognitive, behavioral, FTD) • Genetic risk factors (ie., VEGF, apo e4) • Biochemical evidence • Cytoskeletal derangement • Mitochondrial dysfunction • Impaired calcium homeostasis • Altered glutamate homeostasis/excitotoxicity • Microglial activation and proliferation • -Dr. M. Strong

10. ALS amyotrophic lateral sclerosis; FTD frontotemporal dementia; PSP progressive supranuclear palsy; AOA ataxia-oculomotor apraxia syndrome; SMA spinal muscular atrophy; PLS primary lateral sclerosis; HSP hereditary spastic paraplegia; SOD1 superoxide dismutase1; SMN survival of motor neuron; VAPB vesicle-associated membrane protein B; SETX senataxin; APTX aprataxin; MAPT microtubule-associated protein tau; VCP valosin-containing protein; PGRN progranulin.

11. Age-matched control (n = 122) Sporadic ALS (n = 136) Frequency of cognitive impairment in ALS (Data kindly provided by Dr. Stan Appel)

12. Progression • Progressive muscular weakness • Usually begins in a single limb or with bulbar involvement • Speaking, swallowing, and breathing difficulties • Sensory, ocular, bowel and bladder, autonomic and cognitive functions* typically remain intact

13. Prognosis • Diagnosed age < 40; median survival 8.7yrs • Diagnosed age > 60; median survival 2.4yrs • 10-16% alive > 10 years • At 5 years, 28% alive

20. Palliative Care in ALS • Palliation is part of continuum of care from diagnosis forward • Symptom control and promoting quality of life is considered part of palliative care • Not limited to hospice or comfort care • Unique to ALS: series of losses/grief throughout the disease • Goals of palliative care change through course of disease, from maximizing function to dignified death according to patients beliefs and preferences

21. Living with ALS • “When I was first diagnosed with the disease I was told to get my affairs in order because I have 3-5 years to live by a doctor who had no right to tell me that unless he found an expiry date on me that I am unaware of.”

22. Palliative Care • Should be initiated early in disease course • Quality of life/Symptom management • Discussions include: • End of life decisions and directives – review q6months • Options for respiratory support • Inform on legal situation for advanced directives • Formulation of advanced directives • Collaborate with health team and family • Assist with grief and loss support

23. “I try to lead as normal a life as possible, and not think about my condition, or regret the things it prevents me from doing, which are not that many.”

24. “…when this all started, I asked myself. ‘Am I going to withdraw from the world, like most people do, or am I going to live?’ I decided I’m going to live – or at least try to live – the way I want, with dignity, with courage, with humor, with composure. There are some mornings when I cry and cry and mourn for myself. Some mornings, I’m so angry and bitter. But it doesn’t last too long. Then I get up and say, ‘I want to live…’” -        Morrie Schwartz1

25. “If I cannot give consent to my own death, whose body is this? Who owns my life?” - Sue Rodriguez

26. “Even if your illness f**ks up your plans, there is still cool stuff to do.  I would rather be well but maybe helping others better understand and care for this illness is better.” - Peter LeBlanc, living with ALS

27. Function Quality of Life Modifications Prospective Care

28. Treatment “care provided to improve a situation”

29. Treatment Issues Incurable IS NOT Untreatable

30. Principles of Care in Progressive Diseases • Prospective Care • Coordinated Care – Interdisciplinary ideal • Maximize Quality of Life • Minimize Stress and Burden • Maintain Function • Plan in advance GOAL: Improve ability to live with the disease

31. Practice Parameters - Guiding Principles • High priority on self-determination • Timely information for decision making, well in advance of management crossroads; decisions are dynamic and can change • Health care professionals should address full continuum of care – diagnosis to death

32. Interdisciplinary Team

33. Diagnosed with Disease Interdisciplinary Team Primary Care Provider Palliative Care Services Case Manager Clinic or Community Family and Caregivers Community Services and Supports Specialty Services Plan for Coordinated Care

34. Impact of Impairments • Participation in: • Self-care • Activities of Daily Living • Communication • Mobility • Recreation • Vocation • Social Activities • Sexual Activities • Emotional and Socio-economic impact on patient and family

35. Comprehensive Functional Assessment • Get baseline on all areas in initial assessment • Monitor progression via email, phone calls, video conference, visits • Predict changes in function as report of abilities change • Intervene early as changes occur to maximize function

36. Patient Perspectives • All people with this illness have value and their lives depend on acquiring the necessary resources to make sure they are able to use their value. • the necessity of a dedicated caregiver to prolong ones life and to greatly enhance ones quality of life

37. Symptom Management Optimizing Function and Quality of Life

38. Symptom Management Optimizing Function and Quality of Life RespiratoryNutritionSwallow and Secretions Communication Weakness Psychosocial

39. Respiratory Function • Respiratory impairment due to diaphragm, chest wall, and abdominal muscle weakness • Risks: atelectasis, aspiration, pneumonia, respiratory failure • Respiratory complications main cause death in MD and ALS (>80%) • Prevent ER/crisis intubation

40. Respiratory Function • Airway Clearance (Cough) • Ventilation (Breathe)

41. Symptoms • Signs of nocturnal desaturations/ hypoventilation: • Am headache, restlessness, nightmares, daytime somnolence • Early signs of respiratory impairment: • Weak cough, low voice volume, supine dyspnea (hallmark of diaphragm weakness), accessory muscle use, paradoxical respiration, fatigue • Late signs of respiratory impairment: • Severe orthopnea, upright dyspnea, daytime drowsiness

42. Airway Clearance • Poor secretions (mucus, debris) clearance causes: • Reduced ventilation • Low perfusion states • Leads to atelectasis • Increased risk pneumonia • Increased risk respiratory failure • Be Proactive – educate and prevent

43. Lung Volume Recruitment – Airway Clearance

45. Assisted Cough When assisted PCFs have decreased to less than 270 L/min with LVR: • Teach manually assisted coughing (abdominal thrusts timed to glottic opening following maximal lung insufflation).

46. Mechanical Insufflator-Exsufflator

47. Tracheostomy in Palliative Care • Is NOT synonomous with invasive ventilation • Aid in airway clearance • Only option for some with advanced bulbar involvement • Can improve symptoms and quality of life • Can use MI-E via trache

48. Non Invasive Ventilation - ALS • Patients using NIV in RC study showed median survival benefit of 205 days (no benefit in poor bulbar function) • >4 hours/day did better than < 4 hours/day (7 months longer survival) • Slowed rate of FVC decline • Improved quality of life with NIV • No standard on when to start – likely at earliest sign of nocturnal hypoventilation or respiratory insufficiency

49. Amyotrophic lateral sclerosis: monitoring • Review every 2-6 months • Symptom review • FVC sitting ± supine • MIP, SNP if possible • PCF • ABG or ETCO2 when hypercapnea suspected • Nocturnal oxymetry ± tCO2 when symptomatic nocturnal hypoventilation suspected

50. Non Invasive Ventilation