Tuesday, July 29, 2014
It has been 75 years since baseball icon Lou Gehrig declared himself the “luckiest man on the face of the earth,” despite a diagnosis at age 35 of amyotrophic lateral sclerosis, a disease with no cure.
In the years since, polio has been virtually eradicated. Chemotherapy has made numerous cancers into curable illnesses.
Chemically synthesized insulin treats diabetes. AIDS is kept in check with protease inhibitors. Prozac and its ilk alleviate depression.
In those 75 years, ALS, the disease that often bears Gehrig’s name, has taken the lives of 375,000 Americans, including Gehrig’s life at age 37.
In those 75 years, one drug has received FDA approval in the treatment of ALS. That was in 1995.
That drug, riluzole, extends the life expectancy of patients by two to three months. Half of the 5,600 Americans diagnosed with ALS each year will die within three years.
“It’s an awful disorder,” says neurologist Ghazala Hayat.
The neurodegenerative disease attacks motor neurons in the brain and spinal cord, progressively weakening the body.
Muscles twitch and cramp. Speech becomes thick and difficult to understand. Swallowing and walking become arduous, then impossible. Eventually, the muscles that control breathing are affected; paralysis sets in.
The lack of a medical breakthrough belies the amount of research going on. So far, 20 genes have been identified as linked to ALS, and multiple drug trials are underway.
“Each drug, even if it’s a failure, shows us a pathway,” says Hayat, who runs an ALS clinic at St. Louis University.
SLU’s clinic is one of about 35 in the country to offer specialized, multidisciplined services to patients with ALS.
More than a dozen practitioners at the clinic, including neurologists, social workers, dieticians and therapists, work together to design a treatment plan to manage each patient’s symptoms.
An exhausting disease
For Dave Larson of Sunset Hills, Mo., slurred speech and issues with swallowing first tipped him off that something was wrong.
“But we would never have guessed ALS,” says Ann Larson, his wife of 18 years. “You put symptoms into WebMD, and about eight (possible causes) come up.”
Since his diagnosis in January 2013, their lives have revolved around the disease. Larson, 49, quit his job in publishing; his wife stopped working, to care for him.
A lifelong athlete — he played Division 1 soccer at Texas Christian University — Larson had to give up going to the gym in January. His athletic build has long faded.
Larson’s fingers curl in toward his palms. His toes, too, are curled, and his feet turn inward, soles facing each other, when he is seated.
The muscles in his upper arms twitch because the nerves are not getting signals from his brain. Sometimes the muscles in his neck seize up and stiffen.
He has a feeding tube but still tries to eat soft foods on his own. He eats and drinks only when someone else is with him, in case he aspirates.
It is an exhausting disease, marked by constant discomfort if not outright pain.
He was “fired” from occupational therapy — as his wife jokingly puts it — when he stopped improving. But twice a week, a massage therapist from the Wellspring Journey Project comes to work his muscles.
He is at his best in the morning. As the day progresses and fatigue sets in, it is harder to talk, to walk, to eat.
But Larson is determined to hold onto whatever independence he can for as long as possible.
In the slow, thick growl that makes his speech nearly impossible to understand, he says, “My motto is, if you don’t use it, it will die faster.”
With that in mind, the Larsons traveled to Ohio last month to have a diaphragmatic pacing device implanted in his abdomen.
The surgery, performed at University Hospitals of Cleveland at Case Western, involves implanting electrodes into the diaphragm, the muscle wall below the lungs. The electrodes stimulate the muscle to help with breathing.
“It’s like (physical therapy) for the diaphragm, so it will atrophy slower,” says Ann Larson.
With no cure, the goal is to slow the disease’s progress. But ALS is unrelenting.
“You give up a little more independence each day,” Dave Larson says.
A shower wand helped when he couldn’t lift his arm to wash his hair. Two weeks later, he could no longer use that. Now the bathroom is being renovated to keep it accessible when he can no longer walk.
Soon, some of the furniture in the sunny family room that overlooks the backyard will be moved elsewhere. The space will be taken over by a ramp so he no longer has to navigate the two steps up to the kitchen.
What he misses the most, Larson says, is expressing his thoughts. By the time he can get his mouth to say what he is thinking, the conversation has often taken a turn. Or people talk over him.
“Sometimes he raises his hand” when he needs to say something, Ann Larson says as her husband laughs. “You don’t realize how much people interrupt each other.”
Since Larson’s diagnosis, Ann has found herself speaking for Dave. But she has also become well-versed on the legislative and medical obstacles facing all ALS patients.
With about 30,000 Americans estimated to have ALS, it is considered an “orphan disease.” That means little financial incentive exists for research and development. One proposal in Congress, the MODDERN Cures Act, would ease some patent regulations and speed patient access to diagnostic tools and treatments.
The couple traveled to Washington in May to urge political support for the legislation. They were among a thousand people from across the country who met with their representatives for ALS Advocacy Day.
The group lobbied for continued funding of the national ALS registry, which was started in 2008. The registry tracks patients, providing comparison data to doctors and potential trial subjects to researchers.
That funding is pending, says Maureen Hill, the president of the ALS Association’s St. Louis Regional Chapter. But since the advocacy day, the House has approved a budget with $7.5 million earmarked for ALS research programs.
The association is also fighting a recent change to Medicare payments for assistive-speech devices. Previously, Medicare purchased the devices for patients; now they are required to rent them. Medicare would stop making payments if a patient goes into a nursing home or the hospital, meaning many would be forced to give up the devices.
In addition to its legislative advocacy, the nonprofit’s goal is to “improve a patient’s quality of life and reduce stress for caregivers,” says Hill.
In the 75 years since the Yankees’ Iron Horse got his “bad break,” nothing has been found to halt the progress of the disease.
But organizations such as the ALS Association have worked to improve the quality of life for patients — connecting them to therapy providers and lending out medical equipment and communication devices.
Medical and research institutions have identified genes linked to the disease; multiple drug and stem cell trials are underway, though no one seems to be closing in on a cure. Yet.
“It’s frustrating,” says Hayat, the neurologist. “But people don’t give up.”
“These patients teach me what perseverance is,” she says. “They teach you what it is to fight every day.”