The ALS patient journey

Imogen Coupe|21st February 2020

Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). ALS is a progressive neurodegenerative disease, and the fast onset of increasingly severe symptoms after diagnosis can be devastating.

The Motor Neuron Disease Association (MNDA) is a UK charity that aims to improve care and support for people with motor neuron diseases such as ALS, along with their families and carers. They campaign for faster access to life-changing equipment and government funds for patients, funds for research and connecting patients with online forums. They also offer patients grants, a helpline called ‘MND Connect’ and host a large portfolio of conferences and masterclasses to help them manage important ALS symptoms.

For ALS patients and their families, the information, support, and sense of community that the MNDA offers are invaluable. Nick Goldup is the Director of Care Improvement at the MNDA, responsible for coordinating the care and support services that the charity offers to patients. He also sits on the board of the National Wheelchair Alliance and represents the UK MNDA organisation at the Global MND Alliance annual symposia.

What is the current process for diagnosing patients with ALS?

Nick Goldup: Well, if we start right at the beginning, for people that get diagnosed with ALS it’s a death sentence. But firstly, patients will struggle to get a diagnosis. There isn’t a biomarker or a blood test, instead, you have to rule out other causes of your symptoms. So, you visit your doctor presenting with a foot drop or maybe your speech has become slurred. That will be the start of ALS, but your doctor will want to rule out other things, for example, Parkinson’s disease or multiple sclerosis. That makes it really difficult to get a diagnosis.

The second battle is to raise awareness of ALS. Most GPs won’t see a case of ALS more than once in their career, so they are not vigilant of the symptoms. At the MNDA, we have tried to raise awareness with a ‘red flag’ tool to make GPs and other healthcare professionals more aware of the symptoms.

Our recent survey showed 28% of the people that died from MND during the last three years saw two or more healthcare professionals before being referred to a neurologist, and 15% of people diagnosed in the last few years will wait more than one year before being referred to a neurologist after first seeing a GP. They get bounced around.

What sorts of symptoms do ALS patients tend to present with?

NG: This is where it differs from person to person. If you were to sit in a clinic and see five people, they would all probably present very differently.

When I visited my first ever clinic, the first lady I saw was in a wheelchair - she couldn’t walk but she could talk. The second person couldn’t talk at all but walked in. The third person had what they call flail arm, so they’d lost all the ability to use their arms but then walked in and could talk.

We categorise the symptoms of ALS into four groups: bulbar, which includes slurred speech; dysphagia (difficulty swallowing); limb features including muscle wastage; muscle twitching and cramps; and respiratory symptoms, including shortness of breath and fatigue. There are also cognitive changes, such as behavioural and emotional deviations and sometimes dementia.

What do you think the biggest challenges are for people with ALS?

NG: The healthcare journey for people with ALS is defined by a constant sense of loss. You lose the ability to walk, then you lose the ability to talk, then you eventually lose the ability to breathe. You can be mourning the loss of one thing and then something else comes along. Everyone is different, but generally, you deteriorate quickly.

Coping with ALS is hard from a psychological perspective too. It strikes so quickly, so people who were relatively fit and healthy suddenly find themselves having to navigate a new system, which is difficult. It’s also difficult for the family, and all families of people with ALS cope with it differently. You might find a husband or wife that throw themselves in and want to know everything about ALS and others that don’t want to know anything. Psychologically, there’s real support needed. 

“28% of the people that died from MND during the last three years saw two or more healthcare professionals before being referred to a neurologist”

How easy is it for ALS patients to navigate the healthcare system?

NG: Historically it has been difficult for patients – they engage with a minimum of ten healthcare professionals. For example, their first point of contact would be a neurologist, but they also deal with a speech and language therapist to support them with swallowing, breathing and speaking, and a specialist occupational therapist to help them get adaptations to their home, the equipment they need and a wheelchair. Patients might also need a physiotherapist and psychologist. Thankfully, the staff at the MNDA care centres help patients to navigate this new world. 

How important do you think a sense of community is to ALS patients? Especially since it's a rare disease.

NG: Statistically MND occurs in 1 in 300 people, so it is classified as a rare disease, but when you imagine one person in a room of 300 people having MND, that feels like a lot. We know that six people will be diagnosed, and six people will die every day.

A sense of community is so important to ALS patients. Our Association is based on the ALS community, with volunteers, support groups and branches that all come together and fundraise for us too. ALS is such a quick, devastating, awful condition and it affects people and their families so dramatically. The speed of it means that somebody is there one moment and then gone the next. 

“Six people will be diagnosed, and six people will die every day”

It pulls people together; the ALS community is amazing. I was in Cornwall last week and the community there are coming together to do bike rides up the length of the country from Land’s End to John O’Groats, raising hundreds of thousands of pounds because the disease has had such an impact on their lives.

Have you seen any recent trends in the way that ALS is treated?

NG: We’re aiming to support the emotional symptoms of ALS more and more every year. We’re offering more psychological support through our care centres. For example, we’ve introduced a psychologist to our Bristol centre to support patients that have just been diagnosed with ALS on their journey. We’re also moving in the direction of more multidisciplinary, coordinated care because we know the impact of that is huge. It has actually been demonstrated to increase the life expectancy of patients. 

How do you think technology can support people with ALS?

We’re starting to look at technology and how we can use it better to support people with ALS, and this year we’ve created a think tank. I was approached by someone at Rolls Royce whose father passed away from MND and wanted to do more, and before we knew it, we engaged the supply chain at companies like Google, Microsoft, and Intel. They are all looking to support the association [MNDA] and produce technology to support people with ALS.

Voice recognition software like Siri and the Google Assistant could be really useful for people. I was with a lady not so long ago and she couldn’t move from her armchair, but she had an iPad so she could communicate with the world and even turn the heating up, despite not being able to get over to the radiator. You can even answer the door from your iPad. It’s not science fiction; that’s quite old technology now.

Finally, What do you wish that everyone knew about ALS?

NG: I wish there was greater awareness of ALS, especially by healthcare professionals. The more people that are aware of it and know that it’s not just the condition that Stephen Hawking had the better because sadly he is not the norm - about half of ALS patients pass away within two years. The ice bucket challenge raised awareness, but a lot of people did the challenge without knowing what ALS was. The real impact was the money raised for the MNDA, which has allowed us to fund research and raise even more awareness of this debilitating disease.

If you would like to support Motor-Neuron Disease Association (MNDA),​ please donate here

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