Andy's Journey: The Struggles Through ALS | Part II: An inescapable trap of a disease
'They really don’t understand that it’s not the kind of thing where you get better’
BRATTLEBORO — A cold day in February 2014. Snow on the ground outside, Andy Leclaire, of Brattleboro, waited inside an examination room at Cheshire Medical Center in Keene, N.H. His wife, Kathleen, was with him.
Andy tapped his cane on the floor. A nurse entered. She had tears in her eyes.
"We kind of hoped for a different diagnosis," Andy said of that moment. "But we weren't surprised."
In Leclaire's family, Amyotrophic Lateral Sclerosis is hereditary, claiming at least 30 of his relatives going back 100 years. Familial Amyotrophic Lateral Sclerosis, or FALS, accounts for 5 to 10 percent of all ALS cases in the United States. The ALS gene Leclaire had carried throughout his life became active, and at 56, he would spend the next two years becoming weaker, while maintaining full cognitive normalcy.
"One thing people often would say to me is, 'Oh, I hope he gets better,'" said Leclaire's wife, Kathleen. "And that's nice to say, but they really don't understand that it's not the kind of thing where you get better."
ALS is a progressive neurodegenerative disease, meaning it primarily affects the nervous systems in the brain and spinal cord. Eventually, a person loses use of their muscles. In time, people can't eat, speak or, ultimately, breathe. But their minds continue to work.
Dr. Elijah Stommel, a neurologist at Dartmouth Hitchcock Medical Center in Lebanon, N.H., sees two new ALS patients in an average week. Stommel ran the tests on Andy that confirmed his ALS.
"Telling patients you think they have the disease is one of the hardest," said Stommel. "And dealing with the sense of hopelessness that families have that there isn't anything good that can be done."
ALS was discovered in 1869 by French neurologist Jean-Martin Charcot, but it wasn't until 1939, when New York Yankees first baseman Lou Gehrig was diagnosed with the disease, that it received international attention. Some might think of ALS as rare, because they may never have heard of it or known people with it. But Stommel said it is not that rare: One's lifetime risk of developing ALS is the same as developing multiple sclerosis. As you get older, your chances are probably 1 in 300. ALS typically strikes people between the ages of 40 and 70. Approximately, "20,000 Americans have the disease at any given time," according to the ALS Foundation.
According to Stommel, ALS usually begins to present itself in one limb or part of the body; from there, it spreads. Stommel provided the example that it could begin in one arm and then spread to the other or from the throat muscles down into the spinal cord. Often, individuals with the disease lose weight and become malnourished. "If you've ever gone without food for a day or so, you know how weak you feel."
The initial symptoms of ALS can vary in different people. One person may have trouble holding a pen, lifting a coffee cup, or picking up food with a fork. Another person may experience a change in vocal pitch when speaking. Some may experience both. Everyone who gets the disease endures muscle weakness, which eventually leads to paralysis.
Stommel said in his work at the ALS Clinic at Dartmouth he has had a few "outlier" patients who lived up to 20 years. Most do not live three years past their diagnosis.
To diagnose someone with ALS, Stommel takes a family history and conducts electrical tests to test muscle activity and how fast impulses travel through nerves. He examines nerves, muscles and limbs, then runs blood and urine tests. Other tests could include a spinal tap; X-rays; imaging of the spine; muscle and/or nerve biopsies; and a neurological examination.
Stommel noted that the vast majority of the ALS diagnoses are sporadic, and in his studies, environmental impacts could have caused it.
Divulging a diagnoses to the patient and family is "devastating," Stommel said.
Stommel is hopeful that a breakthrough will one day come, but he said less work has been done in this field compared to more "popular" diseases.
"The fact that it's not as common as cancer, it's less attractive to drug companies. It's also harder to run clinical trials with drug companies who don't think they're going to get the same return," Stommel said.
ALS awareness did shake the world in 2014 when more than 17 million people participated in the "ALS Ice Bucket Challenge" on social media that raised $115 million for the ALS Association. Sixty-seven percent of the proceeds went to research to find a cure and 20 percent went to patient and community services.
THE BODY WEAKENS
Soon after Andy Leclaire's diagnosis, he couldn't muster lifting his arms above his head in the shower. So Kathleen would help bathe him. Andy was a bit stubborn to sit in the shower chair at first, she said.
As one progresses through ALS, assistive devices are needed to compensate for the many human functions we "take for granted," Stommel said. For example, patients need a machine to help them breathe and a feeding tube that prevents them from choking. Special toileting becomes essential.
"If I were going to pick a disease to live with, ALS would not be No. 1 on my list," said Stommel. "It's a devastating disease. And for doctors and nurses, it's very frustrating to not be able to make a difference."
As a health care provider, Stommel said one difference can be made: "Make sure you pay attention. Just be there for the patient or family to answer questions."
Living with the disease isn't all "doom and gloom," Stommel said. "We're all going to die, but with ALS, everything is sped up."
Back at the hospital, in February 2014, the nurse announced Andy's diagnosis. It confirmed his suspicion. Over the next two years, Andy would lose his grasp on his physical abilities.
With no cure or hope for improvement, he held tight to a positive outlook on life. Andy's Catholic faith, his family, his support network kept him going. A "hero," one caregiver would call him. His priest would observe: "As his body gets weaker, his faith becomes strong."
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