Little Things Make the Difference

A blog about an ALS patient and her experience from the onset of the disease to her everyday life in an ICU.

Saturday, October 28, 2006

Hello to all! My name is Joselia Sequeira, I am Portuguese and I am an ALS patient. I, and the nurses of the ICU where I currently live, created this blog in order to share my story with others and to make others aware of ALS. Since this is the first entry of my blog space “The Little Things Make the Difference”, I thought it would be important to explain what exactly ALS is.

Amyotrophic lateral sclerosis (ALS), often referred to as Lou Gehrig's disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their death. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, patients in the later stages of the disease may become totally paralyzed. Yet, through it all, for the vast majority of people, their minds remain unaffected.

A-myo-trophic comes from the Greek language. "A" means no or negative. "Myo" refers to muscle, and "Trophic" means nourishment---"No muscle nourishment." When a muscle has no nourishment, it "atrophies" or wastes away. "Lateral" identifies the areas in a person's spinal cord where portions of the nerve cells that signal and control the muscles are located. As this area degenerates it leads to scarring or hardening ("sclerosis") in the region. Please do not confuse ALS with Multiple Sclerosis!

As motor neurons degenerate, they can no longer send impulses to the muscle fibers that normally result in muscle movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to atrophy (become smaller). Limbs begin to look "thinner" as muscle tissue atrophies.

Although the cause of ALS is not completely understood, the recent years have brought a wealth of new scientific understanding regarding the physiology of this disease. There is not a cure or treatment today that halts or reverses ALS.

At the onset of ALS the symptoms may be so slight that they are frequently overlooked. With regard to the appearance of symptoms and the progression of the illness, the course of the disease may include the following: muscle weakness in one or more of the following:
  • hands, arms, legs or the muscles of speech, swallowing or breathing
  • twitching (fasciculation) and cramping of muscles, especially those in the hands and feet
  • impairment of the use of the arms and legs
  • "thick speech" and difficulty in projecting the voice
  • in more advanced stages, shortness of breath, difficulty in breathing and swallowing.

Since ALS attacks only motor neurons, the sense of sight, touch, hearing, taste and smell are not affected. For many people, muscles of the eyes and bladder are generally not affected. For the vast majority of people, their mind and thoughts are not impaired and remain sharp despite the progressive degenerating condition of the body.

ALS is a very difficult disease to diagnose. To date, there is no one test or procedure to ultimately establish the diagnosis of ALS. It is through a clinical examination and series of diagnostic tests, often ruling out other diseases that mimic ALS, that a diagnosis can be established. A comprehensive diagnostic workup includes most, if not all, of the following procedures:

  • electrodiagnostic tests including electromyography (EMG) and nerve conduction velocity (NCV)
  • blood and urine studies including high resolution serum protein electrophoresis, thyroid and parathyroid hormone levels and 24 hour urine collection for heavy metals
  • spinal tap
  • x-rays, including magnetic resonance imaging (MRI)
  • myelogram of cervical spine
  • muscle and/or nerve biopsy
  • thorough neurological examination

Although the mean survival time with ALS is three to five years, many people live five, ten or more years, which is my case – I was diagnosed with ALS in 1993. This is just a brief description of what the disease is consisted of, for more information I suggest consulting the following website:

See you all soon!!!