An ALS Registry Could Help Find Environmental Risk Factors for the Incurable Disease | Health Care | Seven Days | Vermont's Independent Voice

News + Opinion » Health Care

An ALS Registry Could Help Find Environmental Risk Factors for the Incurable Disease

By

Dustin Keelty with his wife, Karen, and two daughters - COURTESY OF KAREN KEELTY
  • Courtesy Of Karen Keelty
  • Dustin Keelty with his wife, Karen, and two daughters

A single question plagued Dustin Keelty long after he was diagnosed with amyotrophic lateral sclerosis, aka Lou Gehrig's disease: Why me?

The Milton man wasn't feeling sorry for himself, though no one would have blamed him. Rather, Keelty wanted to know what cosmic forces had combined to give him the rare, incurable and fatal illness.

Scientists have long puzzled over this question, troubled by the knowledge that about 90 percent of ALS cases — including Keelty's — have no genetic explanation. Researchers at Dartmouth-Hitchcock medical center have been particularly interested in a potential link between the fatal disease and cyanobacteria, the cause of those stinky algae blooms that strike some Vermont lakes each year.

Keelty was diagnosed in late 2016 at age 41. An avid kayaker and scuba diver, he was convinced that he'd been exposed to something in the local environment; he knew of five other people with ALS in Milton alone, including his former assistant at the town's Public Works Department.

"He just thought that there had to be something out there causing it," his wife of 21 years, Karen Keelty, said last week.

A bill before the state legislature could help identify patterns by mandating that health care providers report ALS diagnoses to a central registry. Researchers would be able to access certain demographic details about the victims, including where they live. That would help those researchers investigate correlations between case clusters and potential risk factors, and it could aid the search for a cause and cure.

"There are cancer registries. There are infectious disease registries," said Dr. Elijah Stommel, a neurologist at Dartmouth-Hitchcock. "ALS is a fatal disease. It's difficult to track all these patients. If you're trying to do good, accurate epidemiology, you need to be able to identify all the cases within a population, and it really shouldn't be that difficult in a state the size of Vermont to do that."

ALS is a paralytic condition that renders the afflicted physically helpless over time, preventing them from walking, speaking and, eventually, breathing on their own. About 5,000 new cases are diagnosed annually in the United States. No one tracks the number of cases in Vermont each year, though Stommel estimates there are about 20.

While advancements in recent decades have helped many patients live longer and more productive lives, no known cure exists, and patients typically die within two to five years.

Keelty lived with the disease longer than most before dying almost five years to the day of his diagnosis. His wife considers her family one of the luckier ones, since he could at least talk and breathe on his own up until the end.

The U.S. Centers for Disease Control and Prevention maintains a national ALS registry, but it's voluntary and some cases go unreported. Meanwhile, only one state has a mandatory registry: Massachusetts. Established 20 years ago at the behest of ALS patients, families and advocacy groups, the Bay State's registry collects data on patient demographics, symptoms and treatment.

Researchers can apply for access to the otherwise confidential database and have used it to better understand the disease's prevalence. A 2016 report from the state's health department, for example, found that a little more than two people per 100,000 were diagnosed, in line with national estimates.

Vermont and New Hampshire lack a registry, but Stommel has mapped out hundreds of cases and probes the list for clues. Since only a fraction of ALS cases can be attributed purely to genetics, the environment appears to be a "key feature" of what causes the disease, Stommel said.

"I've got a husband and wife who got ALS around the same time," he said. "I had a caretaker and a man who lived in a house on Shelburne Point in Vermont who got ALS within a year or so of each other. You can't just ignore those scenarios."

While Stommel's team is looking at a wide range of potential risk factors that includes air pollution, pesticides and heavy metals, the most promising data centers on cyanobacteria: Many ALS patients lived near lakes that have poor water quality and frequent algae blooms, he said.

Some patients never swam, ate fish or drank water from these nearby lakes, so Stommel and other researchers looked for airborne sources. Aerosol samples taken near blooms in Vermont and New Hampshire detected airborne neurotoxins. Other studies found toxins in the lung fluid and brain tissue of some patients after they died.

The researchers have taken particular interest in a specific cyanobacteria-produced toxin: BMAA, which some research has linked to human brain disease. One influential study implicated the toxin in a paralytic condition plaguing a native Guam population. Scientists found that cyanobacteria was growing on the roots of the cycad tree, producing BMAA that got into tree seeds. Fruit bats ate the seeds, and the native population ate the fruit bats. The disease's prevalence fell as their diet evolved over time.

Another study from 2016 found that monkeys fed doses of BMAA developed neurological problems typical of Alzheimer's disease.

Dr. Elijah Stommel - COURTESY OF DARTMOUTH-HITCHCOCK
  • Courtesy Of Dartmouth-Hitchcock
  • Dr. Elijah Stommel

"Our feeling is that, as with some cancers, it's probably related to several hits over many, many years," Stommel said. "That first hit can be when you're very young, so you might have been exposed to something when you're even in utero, and then your next exposure might not be 'til you were 10 or 15 years old." Since most ALS patients are between 55 and 70, "it's entirely possible that it requires a number of hits from toxins over time until you break the camel's back."

Not everyone is convinced of a link between cyanobacteria blooms and ALS. A toxicologist with the Vermont Department of Health told Seven Days in 2016 that the published research on the topic was "epidemiologically weak," failing to account for other potentially contributing factors such as age and exposure to pesticides and metals.

The department doesn't seem to have budged much since. An FAQ on its cyanobacteria web page acknowledges Stommel's cluster research but says it is "very preliminary and has not been proven."

Health Commissioner Dr. Mark Levine has declined to support a registry in the past, according to Stommel. He and Dr. Rup Tandan, a neurologist at the University of Vermont Medical Center, sent a detailed proposal to Levine more than a year ago. "It was Dr. Levine's opinion that it was a rare disease and there wasn't enough interest to pay to have a registry," Stommel said.

Lawmakers supportive of the registry bill say they don't know what it might cost, but Stommel guessed it would be a small price tag given Vermont's size.

In response to a series of specific questions, a health department spokesperson issued a written statement.

"ALS is a devastating disease with no known cause," it read. "The Department of Health believes more research in this area is needed, and we support quality epidemiological research on ALS. It is unclear if a registry is the best way to approach that research in Vermont."

Stommel believes that the department's reluctance stems from more than just healthy scientific skepticism. "One of the health officers in Vermont who criticized our research has said that it could impact tourism and people who want to rent out their houses on the lake," he said.

"My intention is not to alarm anybody," he added. "My intention is to try to seek out the truth and get some answers, and you can't seek out the truth without having the right infrastructure to do it. And part of that infrastructure is a registry."

The registry bill, which was introduced a year ago but went nowhere amid a COVID-19-dominated session, seems to have a better chance this year. The Senate Health and Welfare Committee, which is chaired by the bill's sponsor, Sen. Ginny Lyons (D-Chittenden), plans to start reviewing the proposal this week.

Dustin Keelty's wife, Karen, had not heard about the bill before speaking with Seven Days but said she fully supports the concept. She suspected that Dustin would have, too, given his passion for supporting the ALS community.

Following his diagnosis, Dustin frequently participated in online support groups, sharing his phone number with strangers and urging them to call him with any questions. The ALS Association, a national nonprofit, even started referring some newly diagnosed patients to him, and he went on to mentor five or six people in this way. "He was such a positive light," Karen said.

When he'd receive these calls, Dustin would talk people through what to expect in the first days and weeks after the life-altering news. He would then nudge them to report their illness to the national ALS registry, explaining that it might help researchers understand what causes the disease. The database has been cited in numerous studies over the years that explore links between ALS and environmental factors.

Keelty knew full well that he'd likely be dead before any major medical breakthroughs. "But he just felt like, if it can help somebody else down the road, then it was going to make it all worth it," Karen said.

The original print version of this article was headlined "Deciphering a Disease"