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ALS is a little-understood disease. Advocates and researchers say a state registry could help

A photo of two people wearing yellow lanyards, posing in a grassy area.
Karin Tilberg, Courtesy
Chris Smith (left) with writer George Smith, a Maine outdoorsman and writer who passed away from ALS in February 2021. Chris passed away from the disease in January 2021.

Three years ago, Karin Tilberg's husband, Chris Smith, started to slur his speech. The Orono couple made light of it at first. Then things got worse. It became difficult for Chris to swallow. He sometimes choked on his food. He saw specialist after specialist until he got a devastating diagnosis: ALS, also known as Lou Gehrig's Disease.

"It is a brutal disease, because it's loss after loss after loss," Tilberg said.

ALS attacks motor neurons that control muscles and eventually robs people of their ability to eat, talk, walk, and breathe. The disease can progress in many different ways. For Smith, it started with his face, mouth, and throat. Eventually he couldn't speak. He had to eat through a feeding tube in his stomach.
"He was not able to smile after a while and that was the hardest one for me. It was hard to kiss him because he couldn't purse his lips," Tilberg said.
As in most cases of ALS, the disease progressed quickly and Smith also lost the use of his hands, arms, and legs. Nearly two years to the day that he was diagnosed, he died at the age of 68. Tilberg said her husband had amazing support from physicians, but they couldn't do much to slow the disease or even provide answers on how he got it.
"The patients are always dumbfounded as to, why me, why did I get this disease?" said Dr. Elijah Stommel, a neurologist at Dartmouth Hitchcock Medical Center in New Hampshire. "And there probably are good reasons why they got the disease."

What researchers do know about ALS is that it's more common in men than women, Stommel said. The average age of people who develop the disease is in their 50s. The rate of ALS among military veterans is twice that of the general population. About 10% of cases are fully genetic, and Stommel said evidence suggests some people likely inherit a predisposition that, combined with other risk factors, can trigger ALS. One of those factors, he said, is likely environmental.

A photo of two people posing together in a grassy field.
Karin Tilberg, Courtesy
Karin Tilberg and her late husband William Christopher Smith, who went by Chris.

"And that might be anything from heavy metals, like methylmercury, or lead to cyanobacterial toxins," Stommel said. "You know, blue-green algae blooms. There's a lot of lakes in Maine that have problems with that."
Stommel and other researchers identified 11 clusters of ALS in New England nearly a decade ago, including two in Maine. One was in Bangor and the other was on the southern end of Mount Desert Island. But Stommel said the cause of the clusters, whether genetic, environmental, or both, is unclear.

That's where a proposed state registry in Maine comes in. The legislature is considering a bill to create an ALS registry. Advocates, researchers, and physicians say establishing a record of who has ALS and where they live would be a significant step toward understanding the causes of the fatal disease, including environmental risk factors.

"What's the registry good for? Well, you can't treat what you can't measure," said Dr. John Taylor, a neurologist at Mid Coast Hospital in Brunswick and director of Maine's only ALS clinic.

Taylor estimates there are 60 to 70 Mainers living with ALS at any given time. But the exact number is unknown. It's a difficult disease to treat because it presents differently in each individual.

"If you lined up 20 ALS patients and as a lay person, you went and talked to them all, you'd be like, there's no way these people all have the same disorder," Taylor said.

In addition to identifying individuals and where they live, Taylor said he hopes that Maine's registry will collect genetic information and how each case presents. There is a national registry with the U.S. CDC. But Laurie McFarren of the Northern New England ALS Association said that it's voluntary, and there are restrictions on releasing data to states.

"So the national database does not have a mechanism for letting Maine know who in Maine is currently diagnosed with ALS, where are they from, what do their backgrounds look like, or for any state," McFarren said.

More from VPR: ALS And Algae Blooms? Scientists Say A State Registry Is Needed To Study Possible Link

States have registries for many other diseases, such as cancer and hepatitis. But Massachusetts is the only state in the nation to have a mandatory registry for ALS.

Maine's proposal would require providers to report diagnoses to the state CDC, which would produce annual reports. It was introduced by Gov. Janet Mills after Karin Tilberg, the woman who lost her husband to ALS, approached Mills about the idea.

"I hope it's a sign of hope and encouragement that more information will be gathered about this disease to find solutions," Tilberg said. "You know, there aren't any now."

Vermont is considering a similar measure. Dr. Stommel hopes that ultimately every New England state establishes a registry. He said it would also benefit people with other neurodegenerative diseases, such as Alzheimers and Parkinson's. Maine's proposal received initial approval from the Health and Human Services Committee. It now awaits consideration from the full legislature.
Copyright 2022 Maine Public. To see more, visit Maine Public.

Patty Wight
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