Battling ALS: Doctors discuss treatment options for rare disease

Neurologist Dr. Robert Gardner has one patient with minor hand and foot weakness. He has another patient with shortness of breath who needs a scooter for mobility and has a number of needs at home, too. Both have been diagnosed with amyotrophic lateral sclerosis, commonly known as ALS or Lou Gehrig's disease, but they're at different stages and need different levels of treatment.

"I wouldn't be able to do that effectively for him out of my office because I don't have a physical therapist, a respiratory therapist, someone to assess nutrition," explains Gardner, who leads a new ALS Clinic at Saint Francis Medical Center's Neurosciences Institute about every six weeks. The clinic now has a team of speech, respiratory, physical and occupational therapists, a nutritionist, a social worker and an ALS Association representative all in one place. "Now we have all of those other disciplines right there seeing him. For him to travel to different appointments would be a huge burden for him and family," says Gardner.

ALS is the most common in its family of neuromuscular diseases, but it's very rare overall. For the 5,000-plus patients diagnosed with ALS each year in the United States, though, the symptoms are sudden, debilitative and progressive, eventually leading to death.

According to Dr. A. Basit Chaudhari, neurologist at Southeast Hospital, one of the earliest symptoms of ALS is compromised hand movements -- the patient may have trouble writing or picking up items. Other symptoms include difficulty talking, swallowing, breathing and walking.

"The voluntary actions and the muscles they're concerned with become weakened, or atrophied. The muscles can't respond," Chaudhari explains. "The things we've taken for granted get lost because the muscles that are supposed to function in a harmonious and synchronized way cannot do that."

Dr. A. Basit Chaudhari (Submitted photo)

A careful observer might notice the weakened muscles literally shriveling under the skin, especially in the hands, says Chaudhari. As the disease progresses, a person who was once fully independent will likely require assistance of a cane, scooter or wheelchair, or medications to relax the muscles or slow the production of saliva.

"It's a rare disease. Certainly we can manage the patient and support the patient, but most of the time it's almost impossible to stop the disease process," says Chaudhari.

Chaudhari says about 10 percent of ALS cases are familial, but beyond that, doctors have only hypotheses about why the disease develops and how to prevent it. Some think ALS may be linked to certain toxins, smoking, or repeated head injuries -- clusters of ALS have been found among professional football players, notes Gardner.

Still, he adds, "Those things very marginally would increase risk. We don't understand what causes it. Ninety-five percent of cases are sporadic. There's no cure for it at this point, but it's an active area of research."

Both Chaudhari and Gardner point out that a diagnosis of ALS is not necessarily a "death sentence," however. While the speed of progression varies for each person, it's likely that patients will live several more months or even years, and with therapies and medications available, they can live somewhat comfortably and productively.

"Once the disease develops, it's a matter of controlling the symptoms," says Chaudhari. "Some people have really defied this terrible disease. It's never great news, but how you communicate and how you manage it are very, very important."