ALS thrust into the spotlight

Tue, Jul 25th 2023, 09:02 AM

Amyotrophic lateral sclerosis (ALS), which is often called Lou Gehrig's disease after the baseball player who died from the disease in 2009, has been thrust into the spotlight in The Bahamas with the recent deaths of two well-known Bahamians in a three-month span, both with an ALS diagnosis.

Boxing legend Lorenzo Anthony "Ray" Minus Jr., and award-winning gospel artist, songwriter, radio personality and former journalist, Vanessa Clarke, pushed the incurable neurological disease into the spotlight with their demises.

Minus died within a year of his diagnosis at age 58.

Clarke died six years after her diagnosis at age 48.

And who can forget Dr. Wendy Stuart, who died in 2018, at age 52, nine years after her diagnosis, and who was very open with her diagnosis?

But what is ALS and who gets it?

According to Johns Hopkins Medicine, ALS is a fatal type of motor neuron disease. It is characterized by progressive degeneration of nerve cells in the spinal cord and brain.

ALS is one of the most devastating of the disorders that affects the function of nerves and muscles.

It does not affect mental functioning or the senses - such as seeing or hearing - and it is not contagious.

The exact cause of the disease is still not known.

Currently, there is no cure for the disease of which there are two types.

Sporadic is the most common form of ALS, making up 90 to 95 percent of all cases. It occurs randomly, without any known cause, and there is no family history.

Familial is a form of ALS that affects a small amount of people and is thought to be inherited.

It was in 2009 that Stuart started to experience problems with her fine and gross motor skills, which eventually hindered her ability to write and walk. She sought medical attention; a previous mercury poisoning diagnosis was ruled out and she was diagnosed with ALS.

Stuart was given two years to live, but lived for nine years as she developed further complications with eating and breathing. Six years after her diagnosis, she became totally dependent on a ventilator.

In Minus' case, initially depleted muscles in his dominant right arm caught his daughter Rayshell Minus-Rolle's attention. They then noticed it in his left arm, along with forgetfulness, mimicking dementia or Alzheimer's Disease. His neck muscles later collapsed, his head fell to his chest, and his speech slurred. This transpired over the course of a year.

It was in 2018 that Clarke suffered a slip and fall which resulted in her injuring her leg.

That fall was one of the early signs Clarke would have to the ALS diagnosis she would later receive - a diagnosis she kept private to everyone except her inner circle. Her reasoning - she did not want to become a "poster child" for the disease.


Symptoms

According to Johns Hopkins Medicine, in the early stages of ALS, a person could first have weakness in a limb that develops over a matter of days, or more commonly, a few weeks. Several weeks to months later, they say that weakness develops in another limb, and that sometimes the initial problem can be one of slurred speech or trouble swallowing. As ALS progresses, more symptoms are noticed.

ALS symptoms vary from person to person and depend on which nerve cells are affected.

Symptoms may include trouble walking or doing usual daily activities; tripping and falling; weakness in the legs, feet or ankles; hand weakness or clumsiness; slurred speech or trouble swallowing; weakness associated with muscle cramps and twitching in the arms, shoulders and tongue; untimely crying, laughing or yawning; and thinking or behavioral changes.

The most common symptoms of ALS are twitching and cramping of muscles, especially those in the hands and feet; loss of motor control in the hands and arms; impairment in the use of the arms and legs; tripping and falling; dropping things; persistent fatigue; uncontrollable periods of laughing or crying; slurred or thick speech; and trouble in projecting the voice.

As the disease progresses, symptoms may include trouble breathing, trouble swallowing, and paralysis.

According to Johns Hopkins Medicine, the symptoms of ALS may look like other conditions or medical problems.


Diagnosis

There is no specific test to diagnose ALS. A person's medical history and symptoms and certain tests to rule out other conditions are done: lab tests - including blood and urine studies and thyroid functioning tests; muscle or nerve biopsy - a sample of tissue or cells from the body is removed and examined under a microscope; spinal tap to measure the pressure in the spinal canal and brain and a small amount of cerebral spinal fluid and test it for an infection or other problems; x-ray using invisible electromagnetic energy beams to produce images of internal tissues, bones and organs onto film; magnetic resonance imaging using large magnets, radio frequencies and a computer to produce detailed images of organs and structures within the body; and electrodiagnostic tests such as electromyography and nerve conduction study to evaluate and diagnose disorders of the muscles and motor neurons.


Complications

As the disease progresses, voluntary movements of arms and legs become impossible. In time, the person diagnosed with ALS will need help with personal care, eating, and mobility. Movement of the diaphragm for breathing is also impaired, and they may need a ventilator for breathing.

Most people with ALS die from respiratory failure.


Treatment

For most people with ALS, the main treatment may involve the management of symptoms which may include physical, occupational speech, respiratory, and nutritional therapies. Some medicines, and heat or whirlpool therapy, may help relieve muscle cramping. Exercise in moderation may help maintain muscle strength and function.

According to Johns Hopkins, researchers are conducting studies to increase their understanding of genes that may cause the disease, mechanisms that can trigger motor neurons to degenerate in ALS, and approaches to stop the progress leading to cell death.

The United States (US) Food and Drug Administration in April approved a first-of-a-kind drug for a rare form of Lou Gehrig's disease, but they were requiring further research to confirm it truly helps patients.

According to an Associated Press report, the FDA approved Biogen's injectable drug for patients with a rare genetic mutation that's estimated to affect less than 500 people in the US. It's the first drug for an inherited form of ALS.

Approval came via FDA's accelerated pathway, which allows drugs to launch based on promising early results, before they're confirmed to benefit patients. That shortcut has come under increasing security from government watchdogs and congressional investigators.

The FDA is requiring Biogen to continue studying the drug in a trial of people who carry the genetic mutation but do not yet have ALS symptoms.

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