Living with ALS for decades: The long struggle and complex questions patients face
ALS is a debilitating and deadly disease with no cure. There are some known genetic markers. But it’s a tough choice: Find out your future risk and live with the looming diagnosis for years before the onset of symptoms or go blindly through life not knowing you carry the gene? It’s a dilemma facing one local family.
Given the option, what would you do?
Candy Cotsiomitis starts her day with medications.
“Everything revolves around when I take my medication and when it kicks in,” she said. “Some days are better than others. Mornings are terrible.”
She uses a chair lift to navigate her home and a walker for shorter distances. But some of her challenges are less obvious.
“I can talk and I can swallow, but my stomach is paralyzed and the bowel is paralyzed,” she said.
The 47-year-old relies on a feeding tube for nutrition and an ostomy pouch to bypass her intestine.
“You hear a lot on tv about the short term and people imminently passing,” she said.
That’s not the case for Cotsiomitis and other patients like her. She’s been living with ALS for 12 years.
The majority of ALS patients, 85 percent, have sporadic disease, meaning there’s no family history. But 15 percent have familial disease – and researchers have identified 30 different genes in which a mutation can be passed down and cause ALS. Some mutations lead to a slow progression, others to a faster course. What are called gene modifiers play a key role.
Dr Robert Kalb is a neurologist with Northwestern Medicine.
“There’s something in the background genotype affecting whether the disease will manifest or not and if it does, when it will manifest,” he said.
“I have been to the hospital and seen doctors that said to me, ‘If you truly had ALS, you’d be dead.’ And I had to show them the genetic test,” Cotsiomitis said.
The former physical therapist has an abnormality in a key gene linked to ALS known as TDP43. Cotsiomitis and her husband know their son faces a challenging decision.
“I think back to it and think, if I were that age would I have wanted to know? No, I wouldn’t have. I would have just wanted to go on with my life as a therapist and get married.”
“So having information about bearing the gene that can cause ALS is an extremely difficult and complex problem to think about,” Kalb said. “But on the other side, it may afford an opportunity to use a very specialized medication super-targeted to that specific gene. … I’m cautiously optimistic that we are really getting close.”
“For me, it’s just, keep me going, I just want to keep going, Cotsiomitis said. “Whatever I need done, let’s do it so Candy can keep going and push forward.”
More information at
Les Turner ALS Foundation
To help answer some of the key questions, Kalb and his team are looking closely at genetically modified worms that are used to model the disease. They’ve identified genetic modifiers that improve their coordination, research supported by the Les Turner ALS Foundation.
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