Motor Neurone Disease

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• Overview • Key themes • Case studies • Current research • Questions and (hopefully) answers

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“Motor Neurone Disease (MND) is a progressive disease that attacks the motor neurones, or nerves, in the brain and spinal cord. This means messages gradually stop reaching muscles, which leads to weakness and wasting.”

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“MND can affect how you walk, talk, eat, drink and breathe. However, not all symptoms necessarily happen to everyone and it is unlikely they will all develop at the same time, or in any specific order.”

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“Although there is currently no cure for MND, symptoms can be managed to help you achieve the best possible quality of life.” Motor Neurone Disease Association

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How will it affect you? •The legs – walking may become more difficult as the legs become weaker, you may experience foot drop. •The arms and hands – everyday tasks such as turning taps, brushing hair, dressing, doing up buttons, may become more difficult as the arms and hands begin to weaken. •The neck and shoulders – it may become difficult to keep your head upright as the muscles weaken. •Speech and swallowing – difficulties may be experienced when eating, drinking and speaking.

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• How will affect you? •

Breathing – if the respiratory muscles become affected, there may be difficulties with breathing.

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Emotions – emotional responses may be affected, leading to laughing or crying involuntarily. A physical response and not a mental one may be the cause of this.

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Changes in thinking – some people living with MND will experience difficulties with memory, learning, language and poor concentration. This is commonly known as cognitive change. Some of these difficulties may be quite subtle, while for others the changes can be more pronounced and noticeable.

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Types •Amyotrophic lateral sclerosis (ALS) – commonest form •Progressive bulbar palsy (PBP) – shortest survival •Progressive muscular atrophy (PMA ) rare – longer survival •Primary lateral sclerosis (PLS ) rare – longer survival •Sporadic MND •Familial MND – 5% to 10% but ……

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Incidence / Prevalence •Highest incidence occurs between age 50 and 70 •Men are affected approximately twice as often as women •The incidence or number of people who will develop MND each year is about two people in every 100,000 – Worcestershire 11 new cases / year

•The prevalence or number of people living with MND at any one time is approximately seven in every 100,000 – Worcestershire 40 people living with MND

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Life expectancy •“There have been rare occasions when someone with MND has lived for over 30 years and others when someone has died within a few months .” •“The average life expectancy is between two and five years from the onset of symptoms . Approximately 10% of people with MND will live for around 10 years .” Motor Neurone Disease Association

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Interventions that influence survival •Riluzole •Non Invasive ventilation •PEG feeding

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Riluzole •Riluzole is the first and only drug to be licensed for the treatment of MND. – “It is not a cure for MND, but it is the only medicine available to show a modest impact on survival for people with MND.” •Riluzole is thought to work by suppressing glutamate activity. – Excess glutamate has been shown to cause brain and spinal cord nerve damage. Motor Neurone Disease Association

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Riluzole •“After 18 months of treatment, it may increase survival by two to four months on average.” Motor Neurone Disease Association

•Trial evidence – Four randomised controlled trials have compared Riluzole with placebo (a total of 1477 individuals) – All trials used tracheostomy-free survival as a primary outcome. – Estimates from the two fully published trials suggest a gain in median tracheostomy free survival time of 2 months to 4 months

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Motor neurone disease The use of non-invasive ventilation in the management of motor neurone disease

NICE guidance July 2010

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Offer to discuss the possible use of non-invasive ventilation …… with the patient and (if the patient agrees) their family and carers, at an appropriate time and in a sensitive manner. This may be at one or more of the following times: • soon after MND is first diagnosed • when monitoring respiratory function • when respiratory function deteriorates • if the patient asks for information. NICE guidance July 2010

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Symptoms and signs of potential respiratory impairment Symptoms

Signs

Breathlessness

Increased respiratory rate

Recurrent chest infections

Shallow breathing

Disturbed sleep / Non-refreshing sleep

Weak cough

Fatigue

Weak sniff

Nightmares / Hallucinations

Abdominal paradox (inward movement of the abdomen during inspiration)

Daytime sleepiness Poor concentration and/or memory Confusion

Poor appetite Morning headaches

Use of accessory muscles of respiration Reduced chest expansion on maximal inspiration

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Investigation criteria Sp02 on room air • is less than or equal to 92% if they have known lung disease • is less than or equal to 94% if they do not have lung disease And / or •FVC or VC less than 50% of predicted value •FVC or VC less than 80% of predicted value plus any symptoms or signs of respiratory impairment NICE guidance July 2010

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Offer to discuss end-of-life care ….. with the patient and (if the patient agrees) their family and carers, at an appropriate time and in a sensitive manner . This may be at one or more of the following times : •when non-invasive ventilation is accepted or declined •when the patient is becoming increasingly dependent on non-invasive ventilation •…… NICE guidance July 2010

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Discussions about end-of-life care should include : •planning of end-of-life care •considering advance decisions to refuse treatment •considering what to do if non-invasive ventilation fails because of either: − an acute, but potentially reversible, deterioration in health or irreversible disease progression •strategies to withdraw non-invasive ventilation if the patient wishes •the involvement of family and carers in decision making (with the patient’s consent if they have the capacity to give it ) NICE guidance July 2010

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PEG feeding •Particularly affects survival in those with a bulbar pattern of disease •‘Logical’ to insert a PEG for those who want it early in their illness •‘Window of opportunity’ in respect to safety in those who delay the decision who also have respiratory failure •No formal guidance but …….

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On initiating discussions about PEG feeding the professional should also offer discussion about •planning of end-of-life care •considering advance decisions to refuse treatment •considering what to do when there is a deterioration in health or irreversible disease progression •strategies to withdraw PEG feeding if the patient wishes •the involvement of family and carers in decision making (with the patient’s consent if they have the capacity to give it) Ian Douglas 2012

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“When you have a hammer everything looks like a nail” •78 year old widow •Dx Confirmed Feb 2009 following a year of arm weakness and shoulder pain for which she received shoulder surgery •Riluzole not tolerated •Oct 2011 – – – – – –

Very little upper limb function ‘bouncing’ off her bed Poor head control SOB on walking 7 meters Cough still explosive Good chest wall movement

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Oct 2011 •Unexplained loss of control of INR – DVT early Sept 2011 •Anaemia •General malaise Admitted with care crisis to Primrose Unit •Ix - raised ALP •U/S subsequently demonstrated multiple solid lesions in the liver •Clear unambiguous decision not to pursue further Ix or Rx •Everything clear cut and straightforward!

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Predicting life expectancy •Lost all the usual ‘markers’ •Struggled to advise family

Decisions about the future •Appeared completely oblivious / insensitive to daughters request to look after her •Mismatch from previous descriptions of her •“Prefer to be dead” •Serene detachment

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“Best laid plans” Sept 2009 59 year old married woman – guardian for granddaughter – – – – – – – –

Presenting symptom cramp in left calf early 2006 Referral to back pain clinic Changed GP when suggested that pain might be ‘psychosomatic’ Diagnosis considered in late 2007 but not confirmed until 2008 because of atypical features Transferring only – but using an electric wheel chair Subtle change in voice quality Still able to feed herself Denied seeking information about the future

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Nov 2009 •Post MND clinic review – Waiting PEG insertion – Beginning formal respiratory assessment – Stating she would want intensive supportive treatment including ITU admission if offered – Accepted advice that attempted CPR would have a very low likelihood of survival to leave hospital - DNACPR decision form completed

Late Nov 2009 •Commenced nocturnal NIV – PEG insertion exposed worsening respiratory failure – NIV started during admission to Stoke

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Dec 2009 “Her admission to Stoke did highlight for her some of the issues related to ventilatory support in advanced motor neurone disease, in that there was a chap in the next bed to her who was clearly dying from his motor neurone disease and he was requiring continuous ventilatory support. The thing that shook her most was the impact on the man’s family and she was telling me that it had both crystallised her views and frightened her at the same time. She is still keen at some point to write a formal advance decision and stated that I want to do it whilst I can still speak, but not just now.”

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Dec 2010 •Home review – Agrees to see me for the first time in a year – Huge concerns around grand daughter’s future – Frightening episodes of choking but still eating for social reasons

July 2011 •OP review – For the first time engages in explicit advance care planning discussions – Draft advanced decision letter written

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“………. I refuse endotracheal or tracheostomy delivered ventilation in any circumstance, although I would accept continuation of non invasive ventilation for a period of a number of days but only if it was felt that treatment of the underlying condition which had caused me to lose capacity, for instance septicaemia due to urinary tract infection, was likely to respond to treatment. However, if after this period of supportive treatment I remain unable to communicate my wishes explicitly, then I refuse the continuation of non invasive ventilation and would wish non invasive ventilation to be withdrawn. I would wish any associated distress to be treated with appropriate medication. In the same circumstances I also refuse the continuation of nutrition and hydration delivered through my PEG tube and request that both artificial hydration and nutrition be discontinued if I am unable to communicate my wishes. …………..”

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12th October 2011 – – – – –

Struggled up to MND clinic for review Diabetes unstable Recurrent UTIs Poor sleep Frightened she may die at any time

20th October 2011 “Conversation with M. F died in the early hours. She was very restless and then took a deep breath and died. M rang 999 and started compressions. The Ambulance came and also did compressions. She was taken to the Alex after the Police were called and she was reported to the Coroner. Luckily E slept through the whole event……….”

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Current research What’s new? “……. Finding of hexanucleotide repeat expansions in C9ORF72 gene, in intron between exons 1 and 2, in 50% of familial MND and also about 10% of 'sporadic' MND patients.”

What does it mean? “ ……. that MND is a lot more genetic than we thought. Expansions particularly common in cases of MND with frontotemporal lobar dementia. Really exciting potential for treatments based on targeting the expanded mutant RNA (- bit like in myotonic dystrophy). Can now find the causative gene defect in about 80% of familial MND cases - potential for prenatal diagnosis and maybe even preimplantation genetic diagnosis………”

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Challenges 1.Decision making - NIV 2.Decision making - PEG Frontotemporal Dementia 3.Decision making – Advance decisions 4.Impacts on families 5.Making the diagnosis 6.“My carers and no one else” 7.Too much thinking time / too much time to suffer 8.“I want to be able to choose when I have had enough and want to die”

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Questions

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