Palliative Care in Neuromuscular Disease

Colleen O’Connell, MD FRCPCAssistant Professor, Dalhousie University Research ChiefStan Cassidy Centre for Rehabilitation

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

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

Understanding ALSPathophysiology, Progression and Prospective Care

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

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

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

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

ALS amyotrophic lateral sclerosis; FTD frontotemporal dementia; PSP progressivesupranuclear palsy; AOA ataxia-oculomotor apraxia syndrome; SMA spinal muscularatrophy; PLS primary lateral sclerosis; HSP hereditary spastic paraplegia; SOD1 superoxidedismutase1; SMN survival of motor neuron; VAPB vesicle-associated membraneprotein B; SETX senataxin; APTX aprataxin; MAPT microtubule-associatedprotein tau; VCP valosin-containing protein; PGRN progranulin.

intact

mild

intact

mild

moderatesevere

Age-matched control (n = 122)

Sporadic ALS (n = 136)

(Data kindly provided by Dr. Stan Appel)

Frequency of cognitive impairment in ALS

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

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

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

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.”

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

“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.”

“…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

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

- Sue Rodriguez

“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

Prospective Care

Function

Modifications

Quality of Life

Treatment

“care provided to improve a situation”

Treatment Issues

Incurable IS NOT Untreatable

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

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

Interdisciplinary Team

Patient and Family

Doctors, Nurses

Social Workers,

Psychologists, Spiritual Counselors

Clinical Dietician, Speech

Pathologists,

Respiratory Therapists

Occupational and

Physical therapists

Home Care workers, Hospice

Plan for Coordinated Care

Diagnosed with Disease

Interdisciplinary Team

Primary Care Provider

Palliative CareServices

Family and Caregivers

Community Services and

SupportsSpecialty Services

Case ManagerClinic or

Community

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

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

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

Symptom ManagementOptimizing Function and Quality of Life

Symptom Management

Optimizing Function and Quality of Life

RespiratoryNutritionSwallow and Secretions

Communication WeaknessPsychosocial

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

Respiratory Function

Airway Clearance (Cough)

Ventilation (Breathe)

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

Airway Clearance

Poor secretions (mucus, debris) clearance causes:Reduced ventilationLow perfusion statesLeads to atelectasisIncreased risk pneumoniaIncreased risk respiratory failure

Be Proactive – educate and prevent

Lung Volume Recruitment – Airway Clearance

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).

Mechanical Insufflator-Exsufflator

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

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

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

Non Invasive Ventilation

Invasive Ventilatory Support Planned and

prepared for Equipment, training,

and human resources Advance of crisis improves quality of

life for patient, but increase caregiver burden

ALS Functional Rating Scale can predict outcomes of tracheostomy

Nutrition

Insufficient caloric intake can be related to: fatigue while eating, fear of choking difficulty manipulating food in the mouth difficulty transferring food to the mouth due to

arm weakness.

Malnutrition can lead to further muscle weakness and can cause immunodeficiency.

Swallowing

PEG or equivalent (radiologically inserted feeding device) probably prolongs survival

Better to do PEG prior to decline in respiratory function; increased risk in FVC<50%

You can still eat with a PEG! PEG is probably effective in stabilizing

weight Clinical Dietician to follow with modified

intake recommendations: positioning, textures, supplements

Swallowing - PEG Strategy:

Discuss with patient and family early: Pros and Cons

Opportunity to meet with surgeon Determine access to resources ahead of

procedure Determine options for when to

discontinue

Swallowing

Interventions Texture modification Supplementation Positioning Education Appetite stimulants (stout, maltevol) Oral hygiene

Secretions and Saliva

Saliva: atropine, glycopyrrolate, scopolamine, amitriptyline, botox, radiation

Thick secretions: guaifenesin, B-blocker Thin secretions: anticholinergic

bronchodilator Suction Machine, Airway clearance

techniques Oral Care: “magic mouthwash”

Communication

Not being able to speak, does not mean having nothing to say

Teach non-verbal strategies early Record voice Evaluate skills, resources, motor abilities;

referral to OT, Aug Comm, Environmental Control

High tech and low tech Scanning techniques, family and caregiver

education, signals There are no studies to support any particular

treatment

Augmentative and Alternative Communications

Weakness Skeletal muscle weakness ultimate cause of

most problems Moderate resistance exercise (submaximal):

strength gains 4-20% without decline High risk for overwork weakness – caution and

common-sense No exercise to exhaustion Weaker within 30 min of exercises Excessive muscle soreness 24-48 hours

postexercise Severe cramping, heaviness, prolonged SOB

Mobility Aids - Orthoses

Safety Muscle Efficiency Comfort Positioning Contracture

prevention

Shoulder Inferior Subluxation

One of most common UE issues for ALS pts

Catch it early in the ambulators and treat with support. Support:

▪ Taping (kinesiotape, etc)▪ Walker handles (added bonus with balance)▪ Slings▪ Creative options (fanny pack, hoody sweater,etc)

Neck Support

When neck weakens true weight of head felt

Swallowing can be easier

Open

HandsResting hand splints for nighttime to

avoid flexor shortening. Typical thermoplastic mitten style

resting hand splint. Best success has been with the

restorative hand

Active finger/wrist extension Kinesiotaping to

help with finger and wrist extension assist

Lightweight and with proper skin prep lasting 3 days.

Eating

• Modify food texture• Universal cuff• Plate guards• Foam • Dicem

Toileting

Issue for hand/arm weakness

Thank the universe for bidets!

Excellent model with remote control that can be mounted anywhere to operate with hand, elbow, feet has increased independence for many!

Warm water and blow dry features are lovely!

Beds and Mattresses

Beds: Up/down Head and foot Controls…switch adapted, remotes May be critical for breathing

Mattresses Soft: lose functional movement such as

rolling. Match the client carefully to the product Skin issues/turning surfaces, Braden

score, functional movement will guide choice wisely

Mobility Aids: Manual and Power Wheelchairs

Start early to supplement mobility so they learn while they have the energy to learn.

Predict for electronics for IR access

Power seating; what will be necessary

Tilt for trunk and head control and pressure reduction

Rehabilitation Issues-Depression, anxiety, grief

Reactive depression expected

Counseling, religious or spiritual support

Allow time for grieving, anger

Don’t forget family!

Patient Perspectives

There are a lot of possibilities for patients to accomplish unfortunately I feel that I am here to bide my time until I pass on. But that could be 20 years or more as proved by Steven Hawkins or Jason Becker. More and more people are living longer yet the perception remains the same about the lifespan of someone with this disease.

How much am I not worth?

Emotional and Social

Advanced Directives

Indications of criteria for discontinuation of nutrition and respiratory support

Planning for tissue donation Establishing powers of attorney in

advance Revisit recommended every 6 months

Patients can live many years with the disease!!

End of Life Care

Discuss wishes and options well in advance

DocumentEnsure family aware of choicesEstablish non-verbal communications

strategiesReview regularly; OK to change mind

▪ Feeding (disposition of G-tube)▪ Respiratory (disposition of ventilation)

Comfort measures – oxygen, morphineLocation for care– Home, hospital, other

Medications

Incremental opioids for dyspnea and pain, reduce cough reflex

Sedatives (diazepam, midazolam, chlorpromazine) reduce anxiety

Oxygen for comfortPalliative sedation if appropriate

Summary

Palliative care occurs from diagnosis to death Quality of life objectives vary patient to

patient Symptomatic treatments (respiratory,

nutrition) do prolong survival while maintaining good quality of life

Patients goals change from maximizing function to dignified death

Proactive care can reduce complications, maintain function, ease stress, an aid planning