In the midst of a global pandemic, it’s easy to forget that there are other terrible diseases in the world, ones that we know very little about. Consider amyotrophic lateral sclerosis — ALS.
Also known as Lou Gehrig’s disease, ALS is an illness whose outcome is never in doubt. The always-fatal neurological disorder traps its victim with loss of muscle control, all while their mind remains active and aware.
Although scientists are pursuing promising drug therapies, a cure has been elusive. Researchers who study the disease say the science continues to evolve. For example, some local scientists say there is a potential link between ALS and the cyanobacteria blooms that occur in some of Vermont’s lakes.
But to learn more, they say they need a mandatory registry for ALS cases in Vermont so they can track each instance of the disease.
The case for a registry
Heidi Smith lives in South Burlington. She’s not a scientist, but she thinks a registry would help find out why her late husband Frank Petrosino got the disease.
“He was diagnosed on March 31, 2010. And he lived for about three-and-a-half years with it, and he died on Aug. 22, 2013,” she recalled.
The last few months of her husband’s life were especially hard, as ALS made it hard for Frank to walk, swallow, and, eventually, to breathe.
“We definitely had a sentence,” she said. “And he was amazing; he’s like, ‘Okay, I thought I had this much time, a lot of time left, now I only have a short amount of time.’ ”
Smith said Frank made the best of the days he had. That included lots of live music and a five-week adventure in Italy, funded with help from their community.
“And he was walking with a cane at that point, but he still walked up all the steps of St. Peter’s Cathedral, so he could see the view from the top,” she said.
Smith learned a lot about ALS in the years Frank lived with it. She learned about the horrible, progressive nature of the disease. She said she also found deep love from friends and neighbors who helped her family endure it. And, she learned that Vermont – and most other states – does not track every instance of ALS that is diagnosed.
In contrast, tracking is common practice for about 80 other diseases; from AIDS to the Zika virus.
“Mandatory reporting is okay. But I think a registry takes it two steps further, to allow one to investigate the possible relationships between environmental risk and the occurrence of disease.” — Dr. Rup Tandan, a neurologist at the University of Vermont
Researchers say they need this information to aid in the search for a cause and cure. They argue that, first, health care providers should be required to report the disease. Then, they say the state should create a central registry of all cases diagnosed, so scientists can access more details about the victims – including where they lived.
Frank Petrosino was his patient.
“If you want to get meaningful data and you want to capture all the patients with the disease, then there has to be some sort of central repository from which we can get the data, get the information, to fulfill the needs and objectives in a scientifically conducted study,” he said.
Tandan’s pager went off twice during our interview. He has a busy practice; his ALS clinic sees about 60 patients a year from Vermont and upstate New York. Patients often come to him after their primary care doctors and other specialists can’t figure out what’s causing the unspecified muscle weakness or other signs of the early stages of ALS.
Clusters of ALS
In his quest to treat ALS, Tandan has worked closely with Dr. Elijah Stommel, a neurologist at the Dartmouth Hitchcock Medical Center. Stommel has done extensive research on possible links between the toxins released by cyanobacteria blooms — of blue-green algae — and ALS cases.
“So there are many clusters along Lake Champlain. There’s one up in Milton, Shelburne, there’s Lake Iroquois and Windsor, Vt.,” he said. “There may well be more, but we don’t have all the cases, so it’s hard. The cases along Lake Champlain and Windsor can be geographically linked to poor water quality, which is conducive to the growth of cyanobacteria, or blue-green algae.”
Stommel said studies show at least one of the toxins produced by cyanobacteria is linked to ALS. In Guam, scientists found that the Indigenous Chamorro people who ate foods that contained that same toxin, called BMAA, had very high rates of the disease. When they changed their diet, the ALS rates dropped.
Stommel says there’s convincing research that links BMAA – the common substance found in the Guam diet and cyanobacteria toxins – with higher incidences of ALS. He cited one study in which lab monkeys were fed the toxin.
“When they looked at the brains of these animals, they were able to reproduce the pathology of the ALS in Guam,” he said.
“We have identified many clusters of ALS in Vermont. But the clarity and reliability of our results would be much better if we had a complete data set.” – Dr. Elijah Stommel, Dartmouth Hitchcock Medical Center
The Vermont Department of Health is not as convinced. In a statement, the department says there’s not yet proof linking specific toxins produced by cyanobacteria and ALS.
“Researchers are testing the hypothesis of a link between BMAA exposure and ALS,” the statement said. “This research is very preliminary and has not been proven. The Health Department will continue to review information as it becomes available.”
The department also did not agree to a detailed proposal for a mandatory ALS registry submitted by Doctors Stommel and Tandan.
Both doctors said in order to help prove the link – and to shed more light broadly on what could be causing ALS in Vermont – a registry would help.
Stommel said ALS is uncommon but not exceptionally rare. The number of new cases nationally is estimated to be about two for every 100,000 people. There may be more. But without a registry, no one knows for sure. Stommel said his clinic in New Hampshire sees about two new cases a week.
“You know, ALS is considered a rare disease. But if you’re in my age group – I’m in my sixties – the chance of getting ALS is about one in 300,” he said.
A new movement in the Statehouse
A bill that would require the registry is pending in the Statehouse, and will likely get reviewed by the Senate Health Care Committee. Chittenden Democrat Virginia Lyons chairs the panel and said she supports the registry.
Still, she said she worries about the impact to Vermont tourism if the public is wary of recreating on or in Lake Champlain.
“Researchers are testing the hypothesis of a link between BMAA exposure and ALS. This research is very preliminary and has not been proven. The Health Department will continue to review information as it becomes available.” – Vermont Department of Health
“You don’t want to make it seem like you can’t swim or recreate in the waters of the state,” she said. “But, we want to make sure our public trust is cared for properly.”
Dr. Tandan, the UVM neurologist, said he knows that probing a possible link between algae blooms and ALS could be damaging to the state’s environmental image.
“By the same token, it is, I think, a wake-up call, that something needs to be done about it,” he said. “And I think if there is a problem that is associated with the human disease – and that has to be proven – but if it’s associated with human disease, then that problem has to be fixed.”
Heidi Smith said her husband Frank liked to sail on Lake Champlain, and had a law office on Church Street in Burlington, near the lake. She said she doesn’t know if algae blooms had anything to do with his illness. But she says a registry could help solve the mystery.
“You know, I’m shocked that we don’t have a registry. That just seems like a no-brainer to me, that people would be registered so that we could track this illness so that we could look for some commonalities,” Smith said. “Because it hit Frank out of the blue – what felt like out of the blue. And I know it’s not out of the blue. There has to be some reason that he was struck.”
The Health Department did not support the registry in the past, but a spokesman says officials will review this year’s bill before taking a position.