The ice bucket challenge completed by thousands of people all over the country in 2014 has highlighted the progressive neurodegenerative disease Amyotrophic lateral sclerosis, commonly known as ALS. Awareness has also grown in the African-American community through FOX network’s new drama series “Empire.” The show includes a Black lead character with the ailment – Lucious Lyon, played by Terrance Howard. ALS, also known as Lou Gehrig’s disease, is a fatal illness estimated to affect nearly 30,000 Americans each year.
According to Robert Pascuzzi, director at the IU Health Neuroscience Center, IU Health is the only health provider in Indiana to designate a special clinic for the support and treatment of ALS. The clinic is recognized as a national center of excellence for treatment of ALS by the ALS Association.
The Indianapolis Recorder Newspaper recently spoke with Pascuzzi about whom this disease affects and the symptoms.
Indianapolis Recorder: What is ALS?
Pascuzzi: It is a degenerative disease of the spine and involves very slow, progressive conditions that lead to loss of nerve cells in the spinal cord and brain. In ALS the effect is on the motor nerves where there is a problem in the upper and lower motor nerves. They gradually wear out and die off and patients have very gradual but progressive loss of muscle strength. Outside of muscle loss, they do not experience any pain. Usually with ALS, thinking is preserved as well as eye movements and vision. Everything else operates properly and what they’re left with is pure muscle loss.
What are the symptoms?
We see patients who come in with symptoms starting in the hand and over the course of six months or a year, it gradually gets worse and spreads to not just the hand but the whole arm. It creeps up into the other arm and eventually the legs. When it first starts, it’s very hard to diagnose but once it spreads it becomes easier to identify. Some people also begin with speech and swallowing problems.
How is this disease diagnosed?
Its clinical diagnosis is based on what the patient tells us and through examination. Usually a neurologist is the person to make the diagnoses. There isn’t much laboratory testing developed, although there is an electrical test for the nerves and muscles.
What is the life expectancy?
Most people run a course from two to five years from the time their symptoms start. Survival is limited by the breathing muscles, but if someone decides to go on a ventilator or breathing machine, that is an option. There are some people with rapid progression, and do not survive a year after symptoms begin. About 20 percent have a very slow form of the disease and survive longer than five years. About 10 percent live longer than 10 years.
Since ALS is very difficult to diagnose, are any causes known?
Only 5 percent of the cause is known and that’s because it is genetic. The genetic defects are pretty well figured out and can be tested, but 95 percent of patients have no family history of it. It could be from a head or spine injury or toxic exposure of some type, but for the most part, the cause is unknown. Looking for a solution to this disease is very important.
Does it affect a specific population or ethnic group?
Outside of the case where it runs in one’s family, it is evenly distributed around the world and affects about 1 in 10,000 living people. In Indiana, there are about 700 patients living with ALS. The lifetime risk of getting the disease is in 1 in 600.
There is no ethnic relationship present but there is a slight relationship with gender in that men are more likely to get it than women. There is also an age issue. It’s much more common in people in their 50s, 60s, and 70s.
What type of encouragement and support would you give a newly diagnosed patient?
When we first see a patient, we aren’t sure their rate of progression so the patient assumes their survival is limited to a couple of years but it could be much longer. We try to explain to them the rate of progression varies from person to person. As we see them every three months, we can figure out their rate of progression and it’s important for us because we like to predict their need of help over time.
We try not to dwell on the fact that it’s a progressive disease. We emphasize the importance of developing a plan to help the patient function as much as possible. Patients are seen by a team of specialists so we can assemble the best package for help.