Understanding life with Lou Gehrig’s disease

Hall of famer first baseman Lou Gehrig probably never expected or wanted the disease he had to forever be associated with his name decades after his diagnosis.  Gehrig played for the New York Yankees in the 1920s and 1930s and helped lead his team to six World Series titles in addition to setting the mark for the most consecutive games played.  He was the only one of four Gehrig children to survive infancy but unfortunately, was diagnosed with ALS in 1939 and passed away two years later from it in 1941.  He was only 38 years old at the time of his death. 

What is ALS?

Discovered in 1869 by a French doctor named Jean-Martin Charcot, the formal name for the disease Gehrig had is Amyotrophic Lateral Sclerosis or ALS for short.  Commonly referred to as Lou Gehrig’s disease, ALS is a progressive disease affecting the nerves in the brain and spinal cord that control muscles.  Over time, as a person’s muscles get weaker and waste away, the symptoms of ALS become more apparent to the point of making it very difficult to walk, talk, eat, and breathe.

The word amyotrophic means “no muscle nourishment,” lateral refers to the areas in a person’s spinal cord where motor neurons are located and sclerosis means “scarring” that occurs in the spinal cord and brain as the motor neurons degenerate and die. 

The motor neurons affected by ALS are only the ones that control voluntary movement such as reaching to pick up a book or walking down a flight of stairs.  Involuntary movements such as blinking and bladder control are usually not affected.

The disease at this time has no known cure.  Half of all people with ALS live at least three years after diagnosed while 20% of patients live up to five years or more and 10% will live more than ten years.

Who can be affected by ALS?

Anyone can develop ALS.  Interestingly, research has shown that 60% of its victims are men and 93% are Caucasian.  Other noteworthy findings have discovered that athletes and military vets are more likely to develop this disease.

It is commonly diagnosed between the ages of 40 and 70 with the average age being 55 but younger people such as Gehrig, can develop it also. 

It is not a common disease as only 30,000 Americans at any given time have ALS. 

Types of ALS

There are two types of ALS:

·      Sporadic ALS – This is the most common form as it affects up to 95% of people with the disease.  Sporadic means it happens with no definite reason why.

·      Familial ALS (FALS) – About 5% to 10% of ALS diagnoses are attributed to FALS meaning there is a family history of it.  FALS is caused by changes to a gene with the parents passing on the faulty gene to their children.  A child of a parent who has the gene for ALS will have a 50% chance of getting the gene and developing the disease.

Causes of ALS

It is still not understood exactly what causes the motor neurons to die that eventually lead to an ALS diagnosis.  What is known is that gene changes, or mutations, are part of the answer to 5% to 10% of why people get ALS.  There have been more than a dozen different genes changes linked to ALS.

Besides gene changes, scientists have looked into what role the environment may play in its development.  It is felt that the reason why military vets have a higher incidence of it could be due to contact with certain chemicals or germs they have been exposed to. 

Other possible causes include:

·      Glutamate – This is a neurotransmitter that sends signals to and from the brain and nerve.  In ALS, glutamate builds up in the spaces around nerve cells causing possible damage to them.  Medications used to treat ALS (riluzole and edaravone) work by lowering glutamate levels.

·      Immune system – Normally the immune system protects the body from foreign invaders such as bacteria and viruses.  Microglia are a type of immune cell in the brain meant to destroy germs and damaged cells but with ALS, microglia could also be destroying healthy motor neurons.

·      Problems with mitochondria – Energy is made in the mitochondria of the cells.  If there is a problem with it, it could possibly lead to ALS.

·      Oxidative stress – When the cells in the body use oxygen to make energy, there is the possibility that toxic substances called free radicals, could damage cells.

Living with ALS

A diagnosis of ALS will mean a progression of the brain’s inability to be able to send messages to the muscles over time.  ALS affects each individual differently as far as how fast or slow it may advance. 

Typically, once messages from the brain are interrupted, the muscles become very weak or atrophy along with becoming stiff.  A person will notice buttoning a shirt or picking up a coffee cup have become difficult.  Falls or stumbling will become more frequent. Eventually the muscles will no longer function and a person will lose their ability to move their arms, legs, head and body. 

As it continues to progress, ALS causes a person to lose control of their diaphragm which are the muscles in the chest that help one to breathe.  Once the ability to breathe on their own occurs, they will have to be on a breathing machine.  The ability to think and learn is still there along with all senses being intact – sight, smell, hearing, taste, and touch. 

For more information and the latest news on ALS, visit the ALS Association.