Scientific Memoirs

A Comprehensive Exploration of ALS Patterns After Years of Dedicated Research

Insights from my chronicles for Amyotrophic Lateral Sclerosis, a neurodegenerative disease with no cure but with some clues for prevention.

If you find this story too long and convoluted you may check out the revised and condensed version at this link which is also a friend link for anyone to read. You may also check out my reasons for revising the story with feedback from a mentor.

My first introduction to ALS occurred during my inaugural year of postgraduate studies, exploring neurodegenerative disorders in an advanced health class. Initially, a concept found in textbooks, ALS took on a poignant reality when I experienced a profound shift in perspective upon viewing the award-winning film Tuesdays with Morrie in 1999.

Within a few days, our family’s trajectory took an unexpected turn as my father received a diagnosis of ALS. As the eldest and seemingly strongest among my siblings, the neurologist initially shared the news with me. However, the impact was profound, hitting me like an emotional avalanche and leaving me at a loss for words.

Temporarily halting my formal doctoral studies for a term, I immersed myself in everything related to ALS, exploring scientific, clinical, and anecdotal sources. Despite my efforts, none of the resources offered a glimmer of hope. However, I always remained optimistic.

Subsequently, I dedicated two years to scrutinizing the findings of hundreds of papers housed in academic libraries, encompassing even those in foreign languages that I understood since the demise of Lou Gehrig. Lou was 37 at the time of succumbing to ALS, a disease now synonymous with his name.

Stephen Hawking defied medical predictions, becoming the longest-living person with this disease. Diagnosed at 21, he surpassed expectations by living for 55 years, a remarkable journey immortalized in the movie The Theory of Everything.

Like Dr. Hawking, my father’s intellect remained sharp until his final moments. Despite this, his once agile body had transformed into an unresponsive shell. The betrayal of his respiratory system left him gasping for air.

Although his cognitive faculties remained intact, his capacity to speak abandoned him in the third year. As his last days approached, we sensed his readiness to depart, but the strain on his breathing rendered him incapable of articulating his farewell.

According to ALS Association, every 90 minutes, someone is diagnosed with the disease, and someone passes away from it.

Annually, approximately 5,000 people in the U.S. receive an ALS diagnosis, with nearly 10% attributed to genetic mutations. Notably, military veterans exhibit a twofold increase in ALS occurrence compared to the general population, shedding light on insights into emotional traumas that I cover in the subsequent section.

What is ALS?

ALS (Amyotrophic Lateral Sclerosis) is a motor neuron disease. It is publicly known as Lou Gehrig’s disease, as this legendary baseball player was diagnosed with ALS in 1939. Then, it was recognized as an impactful and lethal disease by the mainstream.

Interestingly, French neurologist Professor Jean-Martin Charcot correctly identified ALS in 1869. He named it referring to a Greek word meaning “without nourishment to muscles.”

Despite some minor progress in its treatment, seventy-two years later, nothing notable in medical history happened regarding the cure for this deadly disease. And another 84 years after Lou’s death, we still have no cure for this disease. Here’s the summary of ALS history.

ALS is a progressive neurodegenerative disease affecting brain and spinal cord nerve cells. Although it is a neurological disease and impacts the brain, ALS does not adversely affect the function of the cognitive system, such as intellect, thinking skills, and senses like seeing, hearing, or smelling.

As happened with my father, the first symptom is weakness in a limb that develops within a few weeks and becomes noticeable. Then, in a few months, tripping and falling happen out of nowhere. It was the most debilitating symptom for my father, so we always walked holding his arm to prevent falls.

Other symptoms are twitching and cramping of muscles, loss of motor control in the hands and arms, impairment in using them, increased fatigue, slurred or thick speech, trouble projecting the voice, and uncontrollable periods of laughing or crying.

After two years, the most common symptoms in the father’s situation were not being able to walk anymore, dropping spoons while eating, sleep disturbances, getting too emotional remembering childhood memories, and constant crying with hopelessness breaking our hearts. He was a strong man who never cried in front of his children.

ALS can affect people regardless of race, sex, or socioeconomic status. It is more common in men than women. 93% are Caucasians. Symptoms commonly develop between 40 and 70. It is most common among people 60 or older. Around 10% of patients are younger than 45.

Treatment of ALS only involves managing and minimizing symptoms. Patients need help with personal care, eating, and mobility. John Hopkins Hospital informs patients, “Use of the medicine may prolong your life by a few months, particularly if you have trouble swallowing. Discuss ways to make living spaces more accessible and use mobility devices and wheelchairs. It’s very important to discuss end-of-life decisions with your loved ones.”

There is currently no cure for ALS. However, some treatments are available. For example, there are a few FDA-approved drugs. A promising drug was developed in Japan in 2022 but is expected to be publicly available in the next six years.

The first one is riluzole, which my father used and did not notice much improvement. It was costly in those days as we had to order it from the US. I don’t know how expensive they are nowadays.

The second one is edaravone, approved in 2017. The third one is thickened riluzole, similar to the first one approved in 2018. The next one is the riluzole oral film approved in 2019.

Another drug approved in 2011 called Nuedexta specifically addressed symptoms of involuntary laughing and crying. It was not available during my father’s sickness.

In addition to the cost of drugs, the main cost is equipment for mobility and home healthcare with a dedicated team of carers 24/7. We spent around a million dollars on my father’s care in four years.

In this post, I want to outline my years of research into potential causes of ALS and some practical ways to address them, hoping it might help some readers consider them as preventative measures.

1— Addressing Psychological Issues and Emotional Traumas

The psychological and emotional aspects of neurodegenerative diseases like ALS are less spoken about for unknown reasons in scientific communities, although they are intuitively evident and endorsed by health advocates.

In his much loved yet contentious book “When the Body Says No: The Cost of Hidden Stress,” Dr. Gabor Mate informs that the dangers of suppression and repression of healthy anger lead to autoimmune diseases and cancer while going into rages, which is the polar extreme, leads to heart disease.

Psychologists advise that a healthy way to deal with anger is crucial to health. The healthy way to deal with anger is “to notice it, accept the feeling, and talk to someone willing to listen to our angry feelings.”

I specifically mention anger, as my father never dared to talk about his anger, even though it was noticeable from his body language. He always suppressed it and considered it shameful to disclose his anger.

During my research, I noticed that unpleasant emotions and emotional traumas that are not expressed could affect the nervous system in various ways.

Traumatic experiences might cause the amygdala to become hyperactive, leading to an overactive stress response. I summarized it in a story titled negative effects of amygdala hijacks.

Unpleasant emotions might cause dysregulation of the HPA axis and the nervous system, resulting in a persistent stress response and an increased risk of chronic illness, such as autoimmune disorders. ALS is an autoimmune disease.

People who have experienced childhood abuse but have not expressed their emotions about it may have a hyperactive amygdala and dysregulation of the HPA axis. Studies indicate that traumatic experiences can cause adverse epigenetic changes.

2 — Preventing Mitochondrial Dysfunction

The most critical factor for survival is energy. Life can lose meaning if the body cannot produce the required power. Mitochondria are tiny organelles responsible for energy production.

Mitochondrial dysfunction can also lead to the impairment of cellular processes, which can contribute to neurodegeneration. In ALS, there is evidence of mitochondrial dysfunction, which can lead to the generation of ROS and the accumulation of misfolded proteins.

Mitigating mitochondrial dysfunction in ALS includes targeting cellular mechanisms that regulate mitochondrial function and biogenesis. Lifestyle factors can promote mitochondrial health. However, scientists work on medication that can stimulate mitochondrial biogenesis to protect mitochondria from damage and improve their function.

I wrote multiple articles about mitochondrial health from different angles, including mitophagy, mitochondrial coupling, mitohormesis, and tips for caring for them and making them denser.

Mitophagy refers to the removal of dysfunctional mitochondria using a process called autophagy. This process eliminates damaged mitochondria and improves cellular homeostasis.

Mitochondrial uncoupling refers to sharing the load by moving protons from the mitochondrial matrix to the mitochondrial intermembrane space. Scientists hypothesize that mitochondrial uncoupling can protect our cells from conditions that favor the production of reactive oxygen species.

Mitochondria create low doses of reactive oxygen species as a signaling molecule to initiate cellular events aiming to protect the cells from the damaging effects of other events. This process is known as mitohormesis.

3 — Lowering Oxidative Stress and Chronic Inflammation

I mention oxidative stress in all my stories related to health and well-being, as it is a root cause of many disorders. It can lead to chronic inflammation, another major cause of multiple ailments. I also documented my research about neuroinflammation, which is a cause of ALS.

Oxidative stress occurs when there is an imbalance between the production of reactive oxygen species (ROS) and the body’s ability to detoxify them. ROS can damage cellular components like DNA, mitochondria, proteins, and lipids. They can contribute to the degeneration of motor neurons.

Lowering oxidative stress via lifestyle factors like a healthy diet, regular exercise, restorative sleep, and timely recovery is possible. However, a common strategy for mitigating oxidative stress in ALS is to target cellular mechanisms that regulate the production and clearance of ROS.

Researchers heavily investigate drugs that can activate antioxidant pathways in cells and develop drugs that can reduce inflammation without side effects. There are many stress management and anti-inflammatory drugs, but they create substantial health risks. I specifically focus on naturally improving glutathione, which is the master antioxidant for the body.

From my experience, ketosis is an effective and natural way to lower inflammation in six ways. And meditation is an effective way to lower stress by impacting our genes and neurotransmitters.

4— Preventing Glutamate Toxicity

Glutamate is a neurotransmitter essential for normal brain function. However, in ALS, there is an overactivation of glutamate receptors, leading to the accumulation of toxic levels of glutamate in the synapses between neurons. This can cause damage to the motor neurons, leading to their degeneration and death.

Mitigating glutamate toxicity in ALS is to target glutamate receptors directly. For example, riluzole treats ALS as it inhibits glutamate release from neurons.

Optimizing this excitatory neurotransmitter can improve cognitive function and mental health, yet its dysfunction can cause severe health issues like ALS.

Scientists also work on developing strategies targeting cellular mechanisms that regulate glutamate uptake and clearance and develop drugs that can protect motor neurons from the toxic effects of glutamate.

I introduced glutamate, a critical neurotransmitter, in an article: “A Biochemical Exciting Your Neurons for Better Memory and Learning, Yet!”

5 — Prevening Protein Aggregation

Recent studies indicate that “almost all cases of ALS, as well as dementia, share a common neuropathology characterized by the deposition of TAR-DNA binding protein (TDP-43) positive protein inclusions, offering an attractive target for the design and testing of novel therapeutics.”

Protein aggregation is a critical factor in the development of ALS. In healthy cells, proteins are folded into specific shapes that allow them to perform their functions properly.

However, some proteins, such as TDP-43, become misfolded and clumped together in ALS. They form aggregates that can be toxic to cells. These aggregates comprise misfolded proteins, which cannot function properly and lead to cell death.

A potential strategy for mitigating protein aggregation in ALS is targeting the misfolded proteins and the cellular mechanisms contributing to their aggregation.

Scientists investigate using small molecules that can bind to misfolded TDP-43 and prevent it from aggregating. Another strategy is targeting molecular chaperones (proteins) that help fold and maintain other proteins’ proper structure.

6 —Getting Checked Genetic Mutations Timely

A growing literature indicates several genetic components that can affect the development of ALS. These genetic components can be divided into sporadic ALS and familial ALS.

About 90% of ALS cases are sporadic. They are not inherited. Familial ALS is caused by mutations in specific genes inherited from parents. Mutations in these genes might cause motor neuron death.

As documented in this paper, “more than 20 genes have been associated with ALS. The most common genetic cause is a hexanucleotide repeat expansion in the C9orf72 gene, responsible for 30%-50% of familial ALS and 7% of sporadic ALS.”

Sporadic ALS accounts for most cases of ALS. It is believed to result from a combination of genetic and environmental factors. Two associated genes are C9orf72 and SOD1.

An estimated 10 percent of ALS is familial and caused by mutations in one of several genes, like C9orf72, SOD1, TARDBP, and FUS. I will cover the details of these genes in another article.

The mechanisms by which these genetic components contribute to the development of ALS are still nascent, with intense studies conducted by scientists. However, hypotheses indicate that mutations in these genes may produce abnormal proteins toxic to motor neurons and other cellular processes that can contribute to motor neuron death.

While genetics continually advances, DNA testing and counseling services are presently accessible in many countries. It is prudent to undergo such assessments to identify potential risks as soon as possible.

Conclusions and Takeaways

I penned this important story focusing on the significance of preventive measures in mitigating the risks of ALS through holistic health principles.

Once ALS takes hold, a cure remains elusive, and life expectancy is strikingly low, barring exceptions like Hawking, who benefited from exceptional care within the medical community and the steadfast support of the Royal Family for five decades.

While autoimmune disorders like ALS have a genetic component, a substantial portion of contributing factors is intertwined with lifestyles, environments, and emotional well-being.

Crucial environmental considerations involve steering clear of toxins and pathogens, including tobacco smoking, substance abuse, and excessive alcohol consumption. A pivotal aspect is the elimination of toxic substances from the body through natural processes like autophagy and mitophagy.

Foundational lifestyle elements encompass a healthy diet, regular physical activity, rejuvenating sleep, effective stress management, adequate rest, timely recovery, mindful living, enhanced relationships, social connections, and the incorporation of enjoyable activities.

Moreover, emotional regulation emerges as a critical factor. Following my father’s demise, I encountered numerous people grappling with ALS, many of whom exhibited a lack of emotional expression. The suppression of emotions stands as a root cause for both physical and mental disorders.

Directing attention towards environmental and lifestyle factors may serve to diminish the likelihood of developing autoimmune conditions. We cannot do much about our genes yet. However, healthy lifestyle habits can initiate epigenetic effects, turning off problematic genes and turning on healing genes.

We cannot cure ALS, but we might lower risks with healthy lifestyle habits to prevent the disease from happening. I remain optimistic. Here are some takeaways from my research and experience.

Accept situations without resistance, denial, or catastrophizing.

Consume essential nutrients from whole foods with bioavailable protein covering essential amino acids, essential minerals, vitamins, and healthy fats.

Boost detoxification through methods like dry saunas and cold exposure, cardio exercises like trampolining, and initiate autophagy through intermittent or long-term fasting.

Enhance insulin sensitivity and achieve fat adaptation through exercise, time-restricted eating, ketogenic diets, or fast-mimicking diets with guidance from professionals.

Engage in regular and moderate physical activity, connect with nature, activate the lymphatic system through joyful workouts, and avoid a sedentary lifestyle.

Get restorative sleep, timely recovery, effective stress management, and address chronic stress and neuroinflammation.

Most importantly, remember to express your emotions in a healthy way and obtain timely support from loved ones, your community, and professionals.

Thank you for reading my perspectives. I wish you a healthy and happy life.

To inform my new readers, I wrote numerous articles that might inform and inspire you. My topics include brain and cognitive function, significant health conditions, longevity, nutrition/food, valuable nutrients, ketogenic lifestyle, self-healing, weight management, writing/reading, and humor.

100+ Insightful Life Lessons from My Circles for the Last 50+ Years

I publish my health and wellness stories on EUPHORIA. My posts do not include professional or health advice. I only document my reviews, observations, experiences, and perspectives to provide information and create awareness. Be Your Own Therapist in 10 Steps.

If you are a writer, you are welcome to join my publications by sending a request via this link. I support 27K+ writers who contribute to my publications on this platform. I also have another profile to write and curate tech stories.

Importance and Value of Medium Friendship for Writers and Readers