June 21 is Global Motor Neuron Disease Awareness Day

10 minute read

Imagine a terrifying rollercoaster ride where every turn and loop brings you closer to death and you can’t get off. That is the theme of our latest campaign. We portrayed the devastating effects of motor neurone disease as a rollercoaster ride and showed how it takes over lives in our film ‘The Ride’ #TakeOverMND

June 21 marks the day to raise awareness of Motor Neuron Disease (MND). There are several rare diseases classified as Motor Neuron Diseases – Hereditary Spastic Paraplegia (HSP) and Primary Lateral Sclerosis (PLS) both share clinical similarities with the most recognised form of MND Amyotrophic Lateral Sclerosis (ALS, a.k.a Lou Gehrig’s Disease, named after the American baseball player who died from MND aged 38). The world-famous physicist, the late Stephen Hawking suffered from MND. To date there is no cure.

I have Hereditary Spastic Paraplegia (HSP). Over the past two years I have ‘met’ hundreds of people with all forms of MND, on Facebook groups and forums across the globe. Those of us with HSP and PLS keep on going: often in constant pain, with increasing spasticity, weakness, and a host of other neurological issues – it is the ‘gift’ that keeps on giving* (*sarcasm alert!) But one of the saddest things of being part of this global MND community is seeing the ever increasing posts informing us of another member’s death from ALS. ALS is the one we hope we never progress to – it is, as the video above demonstrates – ‘a terrifying roller-coaster ride where every turn and loop brings you closer to death and you can’t get off ‘.

Someone – a complete stranger – asked me a while back why I use a crutch. At the time I was newly diagnosed with HSP, I was unaware that it was classed as a MND, and didn’t really know how to describe it. For want of a better description, I said that it’s a rare neurological disease with symptoms like Multiple Sclerosis (MS). The woman responded acidly that she has a relative with MS and I should be grateful I don’t have that. To say that stung a bit is an understatement and, as I have found out over the past year, it is a common response that ill-informed or insensitive people say when confronted with someone with a serious – yet unheard of – disease.

But, I can say with all honesty that I am grateful every day that I do not have ALS – my heart goes out to those suffering from it, and all those who care for them. And as for the nasty woman? I hope she’s constantly grateful she doesn’t have what I have, but more importantly, she doesn’t have what some of my friends across the world are dying from.

We desperately need a cure for MND. Medical research is progressing at a huge rate; we are seeing incredible new genetic editing techniques that may just cure this awful disease. It might not be in time for many of us but it will happen for those in the future!

However, the main issue is awareness – what is a MND? Do you know what it is? What it does to us?

Neals.org describe the MNDs succinctly:

Motor Neuron Diseases (MND) are a group of neurological disorders that affect motor neurons in adults and in children.  Motor neurons are specific types of cells that control voluntary muscle activities such as speaking, walking, and breathing.  In adults, symptoms of these disorders often appear after age 40, while in children – particularly in inherited or familial forms of the disease – symptoms may be present at birth. Motor Neuron Disease generally refers to the diagnosis of Amyotrophic Lateral Sclerosis (ALS), or Lou Gehrig’s Disease.  In the UK, Motor Neurone Disease refers to both ALS specifically (the most common form of disease) and to the broader spectrum of motor neuron diseases, including Primary Lateral Sclerosis (PLS) and Hereditary Spastic Paraplegia (HSP).

Amyotrophic Lateral Sclerosis (ALS) is a rare disease, occurring in about 2 out of 100,000 people.  People with ALS experience progressive weakness in muscles responsible for movement, speaking, swallowing, and breathing.  These symptoms are due to dysfunction and death of motor neurons, disconnecting them from their target muscles.  Muscles that are disconnected from their parent motor neuron become small (“atrophy”) and exhibit spontaneous twitching (“fasciculations”).  People with ALS also may develop stiffness, called “spasticity”, which is also do to the death of motor neurons. Sensory functions – such as sight, smell and taste – remain intact, and significant pain or numbness are not typical.  About 25% of people with ALS will also develop abnormalities in cognition and behavior termed dementia. The current treatment of ALS is focused on managing symptoms and maintaining strength and the best possible quality of life, as there is no cure for the disease.

Primary Lateral Sclerosis (PLS) is a rare form of motor neuron disease affecting the upper motor neurons only, resulting in increasing muscles stiffness (“spasticity”) and weakness.   PLS progresses more slowly than ALS, and unlike ALS, PLS does not cause muscles wasting, as spinal motor neurons or lower motor neurons stay intact.  However, some people who initially appear to have PLS will, with time, develop weakness and muscle loss, transforming the diagnosis to ALS. PLS does not usually run in families and the age of onset is generally between 35 and 66 years of age. The treatment of PLS is focused on symptom relief, as nothing is available at this time to prevent, slow, stop, or reverse the disease.

Hereditary Spastic Paraplegia (HSP) is a group of rare, inherited neurological disorders whose primary symptoms are progressive muscle weakness and increased muscle stiffness (spasticity) that usually starts in the legs. HSP is identified by difficulty walking due to increasingly weak and stiff muscles. Initial symptoms may include difficulty with balance, and, as the disease progresses, canes, walkers, or wheelchairs may be required. Other common symptoms of HSP are hyperactive tendon reflexes, involuntary muscular contractions and relaxations (known as clonus), and congenital foot problems such as pes cavus (high arched foot). While HSP usually runs in families, even within the same family the severity of symptoms and the exact age of symptom onset can differ. Treatment of HSP is focused on symptom relief, as no treatments are available at this time to prevent, stop, slow, or reverse the disease.

‘About ALS and Motor Neuron Disease’ Northeast ALS Consortium (NEALS) https://www.neals.org/

If you have read thus far – thank you! And I ask that next time you want to donate to charity, or raise money for a good cause, please consider the following charities – they are all working so hard to raise money for medical research into treatments for ALS, PLS and HSP, but they also help those of us with MND live as long and as comfortably as we can, until a cure is found.

MND Association https://www.mndassociation.org

HSP Support Group (UK) https://www.hspgroup.org/

Spastic Paraplegia Foundation https://sp-foundation.org/

HSP Research Foundation (AUS) https://hspersunite.org.au/