The death of South African Rugby legend Joost van der Westhuizen has shone a new light on the reality of living with motor neuron disease (MND).

MND is a name used for a a variety of diseases that cause a person’s nerve cells to degenerate and eventually die. These nerve cells control muscle functions which enable us to breathe, swallow and walk. Therefore, patients who suffer from MND often experience muscle weakness and eventually muscle wasting. According to Professor Peet Du Toit, a professor of Neuroscience and Physiology and Gerhart Kalmeier, a Master’s student in Physiology, “It is not yet clear what causes motor neurons to stop functioning properly. We know that about 5% of cases have a family history of related conditions, where faulty genes have been identified to contribute largely to the development of the disease.” Around 384 new cases of MND are reported every year.

The most common form of MND is Amyotrophic Lateral Sclerosis (ALS). Various symptoms of ALS include speech impediments, muscle spasms, the inability to swallow, move various limbs, and in later stages, the inability to breathe. According to the ALS Association, the average age of those diagnosed is 55 years and the average lifespan of someone living with ALS is between two to five years. However, the medical drug Riluzole has been shown to slightly prolong the lifespan of ALS patients. Generally speaking, ALS occurs equally among men and women and among various socioeconomic, racial and ethnic groups.

There is often a misconception that all MND patients do not suffer from cognitive impairments. According to the National Health Services of the UK, in around 15% of cases, patients can suffer from Frontotemporal Dementia which affects personality and behaviour.

Steven Hawking, the famous theoretical physicist and possibly the most well-known person living with ALS, has survived with the disease for over 50 years. In an interview with Scientific American, Leo McClucksey, medical director of the ALS Centre at the University of Pennsylvania, explained that the reason for Hawking’s lifespan is the fact that his breathing muscles and his ability to swallow have not completely deteriorated as with most ALS patients who die of repository failure, dehydration or malnutrition. It is also possible that being diagnosed at the age of 21 caused the disease to progress very slowly as is commonly seen with patients diagnosed in their teens because of the early help they can receive. Hawking’s lengthy survival with this disease represents a very small proportion of ALS patients.

A variety of research is currently underway in order to improve the quality of life of patients living with MND. Such research includes the work of Imke Oosthuizen, a UP Master’s student at the Centre for Augmentative and Alternative Communication. Last year, she conducted a study on the use of message banking as a way to facilitate communication in MND patients. The idea behind this is to digitally record a variety of phrases, sounds and stories from patients in the early stages of their disease and for them to later retrieve those messages when they are no longer able to speak themselves.

In recent years, awareness of MND has significantly increased due to social campaigns such as the ALS Ice Bucket Challenge. According to the ALS Association, the challenge raised around $115 million (R1.53 billion) in 2014 with 67% of it being spent on research. There are various organisations in South Africa that accept donations to aid research and awareness, such as the South African Motor Neuron Diseases Association and the J9 Foundation started by Van der Westhuizen.

Photo: Stefan Stander

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