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Experiencing subtle muscle twitches and tightness in his foot, Michael Stone, a Texas resident then in his early twenties, initially dismissed these symptoms as work-related strain from his job as a waiter. However, these early indicators were actually the first signs of motor neurone disease (MND), a devastating condition also known as amyotrophic lateral sclerosis (ALS) or ‘locked-in syndrome’. Earlier this year, at 25, Stone, from San Marcos, Texas, received a formal diagnosis of amyotrophic lateral sclerosis (ALS), the most prevalent form of MND. This diagnosis highlighted the challenges of early MND detection and the profound impact of this neurodegenerative disease.
Early Warning Signs of Motor Neurone Disease
Initial Symptoms Dismissed as Work Strain
Michael Stone’s journey began with seemingly minor physical complaints. In his early twenties, he noticed tightness in his left foot accompanied by involuntary muscle twitching. Working as a server in a restaurant, he initially attributed these symptoms to the physical demands of his job.
“I was a server serving at a restaurant in 2022 and the first thing I noticed was that my left foot just felt a little different. It was more like tightness,” Stone recounted. He explained he worked lengthy 12-hour shifts and believed rest would alleviate his discomfort. “I was working a lot of 12 hour long shifts so I just thought that I needed to stay off my feet or I was on my feet too much.”
Progression of Muscle Twitching
Contrary to his initial assumption, Stone’s symptoms did not subside. He soon observed muscle twitching, a common but often benign occurrence.
“But right after that I noticed some twitching on top of my left foot and that was weird for me,” he stated. The twitching, initially localized, began to spread, becoming more pervasive and concerning.
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Describing the escalation, Stone detailed, “Eventually that twitching spread up my leg to my calf, my left thigh, the left side of my body and my left arm. Then I had twitching everywhere, all over my body.”
Understanding Muscle Twitching and MND
Muscle twitching, or fasciculation, is characterized by involuntary muscle contractions. These can range in intensity from subtle tremors to more pronounced movements. While often linked to benign factors like stress or caffeine, persistent and widespread twitching can be an early symptom of motor neurone disease.
Common areas affected by such twitches include:
- Eyelids
- Arms
- Hands
- Fingers
- Legs
- Feet
Diagnosis and the Harrowing Journey
Seeking Medical Expertise
As his symptoms intensified and broadened, Michael Stone sought medical advice to understand the underlying cause of his deteriorating condition. He described a frustrating and prolonged diagnostic process.
“For the past few years I’ve been dealing with a range of symptoms such as muscle weakness, muscle stiffness, twitching in my muscles,” Stone explained. Adding to his concerns, he noted, “Over the last few months I was starting to notice that I was having some problems breathing, specifically when lying down.”
A Lengthy and Uncertain Process
The path to diagnosis was fraught with uncertainty and repeated consultations with medical professionals. Stone expressed the anxiety and confusion of this period.
“It’s been a really scary journey, especially at the beginning when I was seeing a lot of doctors and a lot of specialists and nobody could figure out what was going on with me,” he admitted. He further elaborated on the inconclusive nature of these consultations, stating, “I kept going to all these well-known doctors and they all kept saying the same thing like ‘well something is definitely going on, but I’m not the person that is going to be able to figure it out for you’.”
This prolonged period of uncertainty and referrals lasted for an extended time. “Then I would get shipped off to the next doctor. It was two and a half years of that,” Stone recalled.
Genetic Link and Rare Mutation
Eventually, a geneticist provided a breakthrough in understanding Stone’s condition, revealing a rare genetic anomaly.
Stone noted the unusual nature of his diagnosis at a young age: “ALS is usually diagnosed in people between the ages of 50 and 70. I’m 25.” He continued, “When my doctors first saw my symptoms they were completely stumped.”
The genetic investigation proved crucial. “After I ended up in a geneticist’s office in Arizona, they found I have a very rare genetic mutation that is known to indirectly cause ALS and other types of neurodegenerative diseases through a process called glutamate excitotoxicity.”
Glutamate Excitotoxicity Explained
Glutamate excitotoxicity, the process identified in Stone’s case, involves an overabundance of glutamate, a key neurotransmitter in the brain.
This process “occurs when excessive glutamate — the brain’s main neurotransmitter — allow high levels of calcium into neurons damaging and destroying them.” This cellular damage is implicated in the progression of ALS.
Living with ALS: Fear and Resilience
Facing a Terrifying Reality
Coming to terms with an ALS diagnosis is an immense emotional challenge. Michael Stone openly shared his feelings of fear and trepidation.
“Of course I’m scared, I’m terrified,” Stone confessed. “Every time I think of my future and what is to come and what will happen to me, what’s already happening to me, it terrifies me.”
Choosing Hope Over Fear
Despite the daunting prognosis, Stone articulated a powerful message of resilience and determination to live life fully.
“But for me, it’s not about what’s on your plate. It’s about what you do with your leftovers,” he declared, employing a metaphor for making the most of life despite adversity.
“I’m not going to let fear control my life and stop me from living because I still have so much life left to live,” Stone affirmed, emphasizing his resolve. He added, “If I give in to the fear I’m not going to be able to do that.”
Acknowledging Grief and Finding Strength
Stone acknowledged the importance of processing difficult emotions while actively seeking coping mechanisms.
“That doesn’t mean I don’t let myself sit with these feelings and let myself mourn my situation, because I do,” he clarified. “I’ve just learned tools that have helped me so much.”
Motor Neurone Disease: Key Facts
Prevalence and Risk
Motor neurone disease affects a significant number of individuals. “Around 5,000 adults in the UK have MND and there is a one in 300 risk of developing the condition over the course of a person’s life.”
Life Expectancy and Progression
The prognosis for MND is variable, but the disease is generally progressive. “Life expectancy for about half of those with the condition is between just two and five years from the onset of symptoms. But these can worsen rapidly.”
However, there is a spectrum of survival. “Some people may live for up to 10 years, and, in rarer circumstances, even longer.”
Common Early Symptoms
Beyond twitching, other early indicators of MND include:
- Cramps
- Muscle weakness
- Slurred speech
- Weight loss
Lack of Cure and Treatment Focus
Currently, there is no cure for motor neurone disease. “There is no cure but doctors can provide treatments to help reduce the impact it has on a person’s life.”
Unknown Causes and Risk Factors
The precise causes of MND remain largely unclear. “The exact cause is largely unknown, but current research points towards a complex interplay of genetic, environmental, and possibly lifestyle factors — and it often hits seemingly fit and healthy people.”
Notable Cases
ALS has tragically affected numerous individuals, including public figures like scientist Stephen Hawking, actor Sandra Bullock’s partner Bryan Randall, and Leeds Rhinos star Rob Burrow.
Locked-in Syndrome and ALS
Locked-in syndrome (LIS) is a severe neurological condition sometimes associated with advanced ALS. “Locked-in syndrome (LIS) is a rare neurological disorder that can also occur in some progressive cases of ALS.”
What is Motor Neurone Disease? (Fact Box Content – Original Text)
Motor Neurone Disease: Key Information
Motor neurone disease is a rare condition primarily affecting individuals in their 60s and 70s, though it can occur in adults of all ages.
It arises from problems with motor neurons, cells in the brain and nerves that gradually cease to function over time. The exact reasons for this malfunction remain unknown.
Genetic predisposition can play a role. Having a close relative with motor neurone disease or frontotemporal dementia may increase susceptibility, but familial inheritance is not the primary cause in most instances.
Early Symptoms of MND
Early indicators of MND can manifest as:
- Weakness in the ankle or leg, leading to difficulty walking upstairs.
- Slurred speech.
- Difficulty swallowing.
- Weakened grip strength.
- Unexplained weight loss.
Individuals experiencing these symptoms should consult a General Practitioner (GP). The GP can evaluate potential conditions and, if necessary, refer the patient to a neurologist.
For those with a family history of motor neurone disease or frontotemporal dementia and related concerns, a GP referral to a genetic counselor may be recommended to discuss risk assessment and available genetic testing.
Source: NHS UK