Amyotrophic lateral sclerosis (ALS) is a nerve-related rare disease, or motor neuron disease, where the nerve cells are gradually broken down and destroyed over time. The condition is often referred to as Lou Gehrig’s disease, because it was named after the famous American baseball player who was diagnosed with the condition.
Amyotrophic lateral sclerosis is a progressive condition that causes gradual disability in affected people and ultimately leads to death.
Causes of ALS
Healthcare professionals aren’t entirely sure how amyotrophic lateral sclerosis develops, but it’s known that up to 10 percent of cases are inherited. There are several possibilities that may cause the condition and they include higher than normal glutamate levels in the brain and the spinal cord fluid which is toxic to nerve cells, autoimmune processes where the body produces antibodies which attack these nerve cells, or the presence of abnormal proteins within the cells themselves which cause damage to the nerves.
Certain risk factors have also been found to be associated with the development of amyotrophic lateral sclerosis. These include being between the age of 40 and 60 years, being male before 65 years of age, having a family history of the disease, smoking (more so in women), and there is the suggestion that exposure to certain work-related chemical and toxins may also be involved.
Clinical picture of ALS
Since amyotrophic lateral sclerosis is a condition that affects the nerve cells, it results in decreased message conduction time from the brain to the muscles and back again. This ultimately leads to patients affected with the disease presenting with issues such as difficulty with walking, tripping and falling over, not being able to use their hands and arms properly, cramps and spasms in the upper limbs, and there’s also difficulty in being able to keep the head up and maintaining adequate posture.
The problem with ALS
Amyotrophic lateral sclerosis makes normal daily activities difficult to perform, and it can lead to various complications. These include the following:
- Speech difficulties due to the tongue being affected by the disease. Patients will usually starts with slightly slurred speech and this may progress to the point where the affected individual may no longer be able to articulate well enough for others to understand them. Speech is then affected to the point where the patient has to use other techniques and technologies to communicate.
- Swallowing difficulties may arise, also due to the tongue being affected but also as a result from damage to the nerves that control the muscles which are responsible for swallowing. The risk here is that food can then travel down the airways and lead to choking or aspiration of foodstuffs and liquids which can cause infections such as pneumonia. If the patient struggles to swallow, they may also end up becoming dehydrated and malnourished due to decreased intake of food and fluids.
- Difficulty with breathing can be caused by accidentally aspirating food, but this problem usually arises from the muscles that control breathing failing to function properly as a result of paralysis caused by the condition.
- Frontotemporal dementia can set in with some of these patients due to damage to the mentioned area of the brain. This can affect memory and decision making, and the patients may experience erratic and negative behaviors.
Amyotrophic lateral sclerosis doesn’t affect the autonomic nervous system, so patients don’t experience problems with their bladder and bowel control. The condition also therefore, doesn’t affect the heart rate negatively.
Unfortunately, the most common cause of death in patients with this disease is respiratory failure, and on average patients pass away within three to five years after the onset of symptoms.
Dealing with ALS
Being diagnosed with amyotrophic lateral sclerosis, and knowing how the disease presents and progresses, can be devastating news for the affected person and their family. The following suggestions are made to try and help these patients and their loved ones cope:
- Learning about being diagnosed with a condition that will eventually cause disability and death is a difficult period of time to go through. The patient and their family will go through a period of mourning and will need time to grieve.
- There are patients with this condition who have lived longer than the mentioned three to five year after the diagnosis is made, with some having lived 10 or even more years with the condition. Having a positive outlook during this tough time will help the patient’s quality of life improve together with the help of family members, friends and the patient’s healthcare team.
- Amyotrophic lateral sclerosis shouldn’t be allowed to define an affected individual. Patients should try to lead their lives as normal as possible, despite their physical limitations.
- Joining a support group will help patients relate to others who have the disease. This helps one to find comfort to hear about how others are living their lives, and know that they are not alone in this fight.
- Patients with this condition should take charge of their lives and plan, together with their healthcare team, the care and needs that they will require in the immediate and later future. Decisions can be made in advance regarding how certain complications will be managed, such as having a tracheostomy (surgically created hole in the throat) done to help with breathing or placing a feeding tube when eating and drinking becomes difficult. Also, decisions can be made regarding how the patient wants to live their final days.
Life stories shared by ALS patients on ALS Hope foundation
Many people are affected by amyotrophic lateral sclerosis, and they will tell you that the disease affects them all differently, to an extent. What they do share in common though is their positive attitude and perseverance to maintain a decent quality of life, and their determination not to allow the condition to dictate their lives.
John “Jackie” Buzby recalls the day that he broke the news of his diagnosis to his family, and says that it was the most devastating day of his life. He mentions though that with the support provided by his family and healthcare team, he is able to have peace of mind despite the difficulties he is facing with his disability.
William Snyder says that a good attitude, faith, and a desire to make the most out of every day allows a person to be happy no matter what the obstacles are in life. His faith helps to boost his morale and allows him to be a positive role model to others, not only to people diagnosed with ALS but also to everyone in general.
Not all doom and gloom
A lot of people may recall a popular cosmologist named Stephen Hawking. He was diagnosed with an early-onset slowly progressive form of ALS back in 1963 when was 21 years old, and he was told that he had 2 years to live.
Dr. Hawking has endured complications such as pneumonia and lost the ability to talk after he had a tracheostomy done to help him breathe with a ventilator. He went on to father 3 children, give lectures, author many books on cosmology and quantum mechanics, and won numerous scientific awards and accolades.
Even though Dr. Hawking can’t move and needs an electronic wheelchair to mobilize, his mental faculties are still intact to this day at the age of 75, 54 years after being diagnosed with amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis has received a boost in awareness due to the popularly known ‘Ice Bucket Challenge’. People and celebrities from all over the world challenged each other to pour ice water over themselves and each other in order to raise awareness for the condition, and to raise funds to aid in further research on possible treatments for the disease.
This campaign took the internet and world by storm and up to date, the ‘Ice Bucket Challenge’ had raised over $115 million. These funds have actually helped researchers discover a new gene linked to the development of ALS.
It sounds easy telling a person diagnosed with this debilitating condition how to lead their lives and to have a positive outlook. It becomes a different matter when someone has to live through this disease though. That’s why it’s important to have a strong support structure in family and friends so that the affected individual can receive the help that they need, especially at the time of diagnosis and when things really start to get difficult for them.
This support structure, together with a professional and determined healthcare team, is vital in the way a patient diagnosed with amyotrophic lateral sclerosis (rare disease) reacts and what their determination will be in trying to lead a life as normal as possible for them.