Published
28 November 2023

More in

MND conference raises awareness of disease and importance of patients’ voice

MND conference at St Christopher's CARE

While raising awareness was a clear aim of the event, the most striking recurring theme was the need to listen to and guide the patient while finding the right volume for their voice.

This year’s St Christopher’s MND annual conference was titled Road to Awareness. Whether it’s making trials more patient-friendly, reducing patient and carer fear around choking, accepting patients’ wishes to withdraw non-invasive ventilation, or simply just asking patients what matters to them, all of the speakers recognised this crucial element of care and support for people with MND.  

The stage for the conference, featuring a mix of clinical and research updates as well as lived experience, was set by its chair Dr Jemeen Sreedharan, Wellcome Trust Senior research Fellow and Honorary Consultant Neurologist, King’s College, London – our long-time partners on the conference.

Dr Sreedharan said that this long-running annual conference had grown and grown, still fulfilled the same objective of providing a multi-professional audience with the chance to share experiences and advances and understanding of Motor Neurone Disease (MND). But, he added, recent and current advances in research made for what he called ‘exciting times’.

Image of Dr Sreedharan

Update on gene therapy and clinical trials

Presentations by Professor Chris Shaw, Professor of Neurology and Neurogenetics and King’s and his colleague Professor Ammar Al-Chalabi, Professor of Neurology and Complex Disease Genetics, provided some of the evidence to support Dr Sreedharan’s claim.

As Prof Al-Chalabi said, of all drugs trialled over the last 27 years, only four didn’t fail. But he said: “We are getting more hits in recent years and there is a signal of success. We are getting better.”

Positively, he added, while often there was less than one trial a year, there are currently six ongoing and that’s been the case for the last three years. “Interest in MND trials is rocketing,” Prof Al-Chalabi said.

Part of that uplift is as a result of greater investment. Prof Shaw has secured more than $100m for his trials and is in the process of raising another $100m. He shared details of the work he and his team have been doing with antisense drugs. A man in his 40s whose mother had died of the disease within two years, and who carried the same gene, progressed quickly to the point where he was in a wheelchair within nine months. But, being treated with the antisense drug he has maintained full power in his arms and full speech.

For families, Prof Shaw added, having a genetic answer can be reassuring, especially if there is an effective therapy as in that case study.

Prof Al-Chalabi picked up on the point about patients and families and the difficult task of striking the right balance between demand for a faster trials process against the efficacy requirements and need to give drugs the requisite time to establish if they really do or don’t work.

Patient advocacy is a two-edged sword, he said. It’s excellent when it pushes through treatment but can be destructive – for example when patients press doctors to prescribe drugs that haven’t been approved. Prof Al-Chalabi said he totally understood why people advocated for faster testing and approvals but it wasn’t helpful if it led to mistrust of the teams running the trials and doctors.

The multiple trials regimes that operate now, including the traditional single drug approach, the Platform way and TRICALS, which is a mix of both of the former, all face the same challenge of there being no satisfactory rating mechanism. A genuine, patient-centred step forward in trials has been the MND SMART programme which uses non-traditional centres which means people don’t have to travel miles from their home to participate.

MND and Fronto-temporal dementia

Engaging with, and listening to, family members to understand the behaviour changes of a patient, is crucial, said Dr Susanne Watkins, Consultant Neurologist at King’s, continuing the theme, in her talk about MND and Fronto-temporal dementia (FTD).

“It can be really distressing for relatives to lose the essence of someone. They’re not quite who they were, but this can be hard to identify with traditional testing, so we need to talk to relatives as they pick this up early on. The most important part of an assessment comes from the history from the patient and the family,” Dr Watkins said.

About half of MND patients who come to her MND clinic have some form of cognitive impairment, she added, while 15% develop FTD. The same proteins, genes and pathological genes are affected in both conditions.

Just as it’s important for a clinician to use the knowledge and observation of a family member to identify the condition, Dr Watkins said it’s also important to listen to families when diagnosing.

“If families don’t have concerns, then maybe it’s best not to stir things up by giving them a label.”

Building a network of MND clinics across south Wales

In a fascinating and clear overview of MND care in South Wales, Dr Idris Baker, National Clinical Lead for Palliative and End of Life Care in Wales, extended the thesis about the wider value of health professionals to MND patients and their families.

He said their role was as periscopes or warning mechanisms – using their experience to guide people on their journey. To provide this service Dr Baker and his team set about establishing a network of 12 multi-professional MND clinics across South Wales – giving most people an accessible, one-stop shop within 10-20 miles of their home and providing consistent, common standards. With appointments every three months patients can access a team of nine specialisms and benefit from that pre-emptive guidance, helping them to make difficult decisions.

In line with the programme’s objective of making life easier for patients and their families, Dr Baker said the clinics aim to minimise avoidable referrals.

Taking the fear out of choking

Choking is a common symptom for people with MND. It’s also an extremely disturbing symptom and one which has attracted very little research, according to Dorinda Moffatt an MND Specialist Practitioner at Prospect Hospice in Wiltshire.

Many years working with people with MND and experiencing her father’s choking when he had MND, inspired Dorinda to study for a Masters on the topic and to create a simple pathway for people to follow – something that hadn’t previously existed. Discovering that few fellow professionals felt confident in managing choking provided further inspiration. Reducing patient and carer distress was another major driver for her.

“Many people ask if they will choke to death. It is a really common fear, but it is extremely rare. That doesn’t mean it isn’t terrifying, because it is and they need support and reassurance. It’s so important to identify these patients and have a plan in place because every day is literally a matter of life and breath.”

Dorinda has now published evidence-based guidance and 95% of healthcare professionals to have used it say it’s improved their confidence in managing choking episodes. It’s available on the Prospect Hospice website.

Listen to the patient AND the carer

In terms of lived experience, delegates couldn’t have asked for a more honest, transparent and at times almost disarmingly pragmatic testimony from Peter Walsh and his wife Carol.

Retired motor mechanic Peter said he’d pretty much diagnosed himself following a six-week bout of flu-like symptoms when he struggled to hold his head up and developed disconcerting twitches in his limbs.

Both he and Carol emphasised the dramatic change the diagnosis has made to their lives. Both gave up work and, very rationally, set to on dealing with all the necessary practicalities from LPAs to bathroom appliances. Peter also made sure to contact St Christopher’s as soon as possible.

He’s already made some big decisions and formally expressed his wishes not to be ventilated and to die at home if possible.

“I want control of my illness rather than the illness controlling me,” Peter added. “It’s not nice but what’s the alternative?”

Peter acknowledged the huge burden on Carol and she highlighted the need for far greater recognition of this.

“We need respite care because carers become an extension of the person they’re caring for and are not having their needs met,” she said. “Someone needs to realise that carers often have disabilities of their won and need so much support. It’s a real issue for people in our position.”

NIV – “never continue with treatments that are distressing and people want to end”

With a threefold increase in the number of people having non-invasive ventilation (NIV), Dr Emma Hall, Consultant in Palliative Medicine at St Christopher’s, said health professionals need to prepare themselves with what she called the very controversial issue of withdrawal of that ventilation.

Dr Hall added: “The decision to stop can feel ethically uncomfortable but it is absolutely ethical and legal and is not assisted dying.”

She shared a case study involving a St Christopher’s patient who was being cared for at home by her wife. Having completed her outstanding life goals, the patient asked the community team to remove the NIV, as it had become tortuous. The team assessed her capacity, consulted closely with her wife and discussed with the whole MDT and GP. A week later with the patient still wanting the NIV withdrawn, the team did so gradually having commenced medications and she died peacefully 10 minutes later. Dr Hall said the wife and the team felt fully supported and comfortable ethically.

“As clinicians we should never continue with treatments that are distressing and people want to end,” she concluded.

Because MND touches practically every part of someone – practical, medical and their very personhood, the day’s final speaker, Suzana Makowski, Medical Director of Compassionate Care ALS, Massachusetts, said she always asks her patients the same thing.

“What is it that you would like me to know about you that will help me to care best for you?”

To enable patients to prepare for when things will get worse, Susana advocates for initiating what many find difficult conversations.

“People are nervous about this, but it’s like buying snow shovels in advance of winter. It’s one of the greatest gifts you can give families, helping them have their voice heard.

“If we think about a person’s life story, who they are, our role as a palliative care professional and how we can help them to construct the third act of their life then we can help to make that third act meaningful.

“What’s really important is what’s important to the person we’re looking after.”

You may also be interested in

Volunteer Judith

Judith’s story

Time-rich Judith feels deep sense of value and fulfilment from volunteering

Roger Eatwell feature

Roger’s story

Volunteer Roger has put his banking background into practice with St Christopher's Gift Aid

London Marathon runner Connor Norris

Connor’s marathon story

Broken leg won’t stop Connor running marathon

Shelagh's story 2017

Shelagh’s story

"When I walk into here, it is like a different world"

Skip to content