Motor neurone disease (MND) is a fatal, rapidly progressing disease that affects the brain and spinal cord. It attacks the nerves that control movement so muscles no longer work.
It does not affect the senses but can leave people locked in a failing body, unable to move, talk and eventually breathe. Some people may experience changes in thinking and behaviour, with a proportion experiencing a rare form of dementia. Currently it is incurable.
Here, Ammar Al-Chalabi (pictured), director of King’s MND Care and Research Centre, shares his expertise on the latest research, challenges and breakthroughs for people with the condition.
The search for a treatment
The underlying aim among researchers is to understand the causes of MND. If we can work out why it happens, we might be able to find a treatment.
We’re also looking into why it progresses more rapidly in some people than others. Th is may lead to a treatment which is able to at least slow its progression down. A lot of our research is genetics-based and there are quite a few studies which give us optimism in the search for a cure.
These studies are helping us to better understand the mechanism of MND and therefore increasing our chances of being able to treat it at some point in the future.
Outlook for people with MND
MND kills a third of people within a year and more than half within two years of diagnosis. An estimated one in 300 will die of the disease. Over the last decade we’ve found survival rates have improved slightly, but this is measured in weeks and months rather than years, so it is barely noticeable.
Strong multidisciplinary teams are shown to improve outcomes. In practice, this means care is managed by neurologists in conjunction with palliative care specialists, physiotherapists, dieticians, wheelchair therapists, clinical nurse specialists, care coordinators, respiratory consultants and occupational and speech and language therapists.
In our team at King’s we also involve a volunteer who has had first-hand experience of MND through a family member or loved one. is is important because they understand what the patients are facing in a different way from healthcare professionals.
In the last 15 years we’ve started intervening more quickly with non-invasive ventilation. Previously, if someone had respiratory failure, we would give a treatment to stop them feeling distressed about being breathless but it was not straightforward to offer any practical solution to the breathing difficulty, and so they would die soon after.
Now we are able to use a portable machine that can support breathing and take away breathlessness by putting air into their lungs. is relieves their symptoms for an extended period and gives a better quality of life for longer.
There is some evidence that it may even prolong survival. We also now intervene more quickly with nutritional support. ere is a lot of research going on currently into whether this needs to be a specific type, such as a high-calorie diet, for example. Hopefully we will get a greater understanding of the impact of diet on the condition in the coming years.
MND and the brain
We are now recognising that in up to 30% of people there is some involvement of thinking. MND can affect word finding and impact on personality in quite subtle ways; o en by making people more stubborn. As a result, patients may interact with relatives differently and may also reject healthcare options.
There is a lot of exploration going on into gene therapy. Although only about 5% of people have a family history of MND, there is probably a genetic component to the condition in everyone. By affecting the genetics, we may be able to slow the disease down.
Other strategies include trying to improve strength regardless of affecting the underlying disease. Increasingly we are seeing new drug treatments designed to make muscle contractions stronger. Another approach being looked into is immune therapy. ere is some evidence that inflammation might influence the disease’s progression. If you can affect the immune system, we might be able to change the course of the disease.
MND and NHS cutbacks
MND is an extremely distressing condition and you need time to be able to deal with all the multiple problems that patients face. When people are given the diagnosis it is a life-changing and usually very distressing experience. ere are many time pressures on people in the NHS.
So we have competing demands and it can be challenging to spend enough time with our patients to support them through this difficult situation.
Although the risk of developing MND is about the same as that of developing multiple sclerosis in the UK, MND affects life expectancy, so it is not as common. It is therefore perceived as a rare disease and it can be di cult to get funding for vital research. In the UK we’re fortunate to have the support of the Motor Neurone Disease Association, which is extremely effective and supportive of patients. Crucially, it also funds a lot of our research into MND.
Generally patients are extremely motivated to take part in research. Sometimes families can be reluctant to agree to get involved if there may be a genetic basis to their family’s condition, as that can have significant implications for them.
Raising public awareness
Perceptions and awareness of MND change depending on where you are in the world. In the UK, public awareness was very low but improved a lot with the Ice Bucket Challenge.
The problem with this viral social media campaign however, was that it referred to ALS rather than MND. A lot of people in the UK didn’t realise it was the same condition and donated funds to charities in the US.