A study published early this year from the University of Sheffield in the UK has brought about new hope by revealing that scientists have been able to identify a “new disrupted pathway” in Motor Neurone Disease (MND), which could pave the way for newer treatments.
MND, an uncommon condition that mainly affects people after their 60s and is more commonly known as the disease that affected English theoretical physicist, cosmologist, and author, Stephen Hawking, in 1963.
It is rare before the age of 40 and occurs when special nerve cells in the brain and spinal cord called “motor neurons” stop working because of neurodegeneration. It leads to muscle weakness, often with visible wasting. The initial symptoms of MND may include: a weakened grip, a general feeling of tiredness, muscle twitches, slurred speech and weakness in the arms and/or legs.
In 1963, Hawking was diagnosed with an early-onset slow-progressing form of MND (also known as “amyotrophic lateral sclerosis” or “Lou Gehrig’s disease”). It gradually paralysed him over many decades. He was director of research at the Centre for Theoretical Cosmology at the University of Cambridge at the time of his death.
His scientific works included collaboration with Roger Penrose on gravitational singularity theorems in the framework of general relativity and the theoretical prediction that “black holes” emit radiation. Hawking was the first to set out a theory of cosmology explained by a union of the general theory of relativity and quantum mechanics. Even after the loss of his speech, he was still able to communicate through a speech-generating device. He died on March 14, 2018, at the age of 76, after living with the disease for more than 50 years.
In the late 1960s, Hawking’s physical abilities declined. He began to use crutches and could no longer give lectures regularly. As he slowly lost the ability to write, he developed compensatory visual methods, including seeing equations in terms of geometry. Hawking was fiercely independent and unwilling to accept help or make concessions for his disabilities. He required much persuasion to accept the use of a wheelchair at the end of the 1960s.
Some other celebrities who suffered from MND include Raymond Abrashkin (author), Zeca Afonso (Portuguese folk singer and anti-fascist politician), Derek Bailey (British avant-garde guitar virtuoso), Ady Barkan (American lawyer and political activist) and Gehrig himself (an American professional baseball player).
I remember the first time I ever heard the words “Motor Neurone Disease” says Sarah, a famous movie actress. I never really thought about MND until……. I saw that my wasted hand was not improving at all. Over a period of about one year, finally the cruel reminder came through. I had MND and there was NO CURE.
MND can be the greatest challenge in one’s life when one spends now every day as an “observer”, rather than a ‘do-er’. What is then the advice to sufferers of MND? Stay positive and appreciate every day; keep telling yourselves that “today is the best day of my life” as tomorrow will be just a little bit worse”.
Scientists have not found a definitive cause for MND but its onset can be linked to a variety of risk factors: virus, exposure to neurotoxins or heavy metals, DNA defects, immune system abnormalities, and enzyme abnormalities.
As part of the new research, the Sheffield scientists led by Dr Scott Allen used a method that takes skin cells from patients, re-programmes them into brain cells and observes them identifying novel pathways of metabolic dysfunction. This has never been done before. Dr. Allen, who is a MND-funded Senior Research Fellow, found that cells from MND patients “had reduced ability to turn a metabolic substrate called ‘adenosine’ into energy due to loss of a key enzyme called adenosine deaminase”.
The consequence of this loss could result in a toxic build-up of “adenosine” in the central nervous system and the subsequent loss of inosine production (a metabolic intermediate that is generally protective). Until now, the link between MND and inosine production through the loss of adenosine deaminase was speculative. When Dr Allen, however, fed the brain astrocytes inosine, energy production increased and the patient’s astrocytes became more supportive towards motor neurones, helping them live longer.
Although we are at an early stage, it is thought that increasing adenosine deaminase levels, combined with inosine supplementation has the potential to slow down disease progression in MND patients. And this is welcome news!
MND, as of today, is always fatal and though it significantly shortens life expectancy, many live with it for a long time. Though there’s no cure, there are treatments to help reduce the impact it has on daily life.
Hawking wrote about MND, “I don’t have much positive to say about motor neurone disease. But it taught me not to pity myself because there are others worse off. MND has thought me to get on with what I can still do”.
Many a time, as age catches up, I remain pensive about my own death. For instance, if I am diagnosed of an incurable disease with only a few hours to live, what would I say? I find immense solace in this quote by an anonymous author, “The will of God will never take us where the grace of God will not protect us.” Amen!
(Dr. Francisco Colaço is a seniormost consulting physician)
