A typical day is anything but for Catherine Scott. You might find her managing her family’s budget and finances, creating weekly dinner menus and recipes or making to-do lists for her kids. Or she might be in a meeting, doing advocacy work, answering questions and providing support to others with ALS and their loved ones, or having a video chat with friends and family. She reads a lot and writes, as well; in fact she is working on a book and a new blog.
And she does it all with only the movement of her eyes, thanks to an assistive device called a Tobii Dynavox I-15. It also allows Catherine to “communicate with others in person in a bossy, software-provided voice,” she says.
Catherine acknowledges, “You would think, as a mostly immobile and bedbound person, my life would be uneventful, but you would be wrong.”
It’s all part of Catherine’s plan to make the most of every day. “I am living with ALS, not dying from ALS,” she says.
First diagnosed at the age of 31 in 2002, Catherine says her world collapsed initially. “It obliterates the life you always thought you would live,” she says. “After a period of initial, gut-wrenching grieving, I slowly picked myself up and began a process of acceptance, adaptation and redefinition of how I would live a life of meaning, productivity and advocacy despite my advancing limitations.”
Catherine’s diagnosis wasn’t her first encounter with ALS, and, sadly, it wouldn’t be her last. Catherine’s mother was diagnosed with ALS in 1997 after being symptomatic for several years and passed on November 12, 2006, at the age of 55. It turns out, ALS runs in Catherine’s family.
Familial or inherited ALS is thought to account for just 10% of ALS cases, which makes it a rarity among an already rare disease.
“There are many genetic mutations which have been discovered to cause familial ALS,” Catherine explains. “Our particular mutation can manifest itself as ALS, frontotemporal dementia (FTD), or both ALS and FTD. There have been known cases where individuals, such as my maternal grandmother, had the mutation but never became symptomatic, even well into their advanced years.”
Still, this hereditary legacy was a complete surprise.
“Until my mother’s diagnosis, we were not aware ALS ran in our family. No one we knew had ever had it, and it never even crossed our minds to consider such a thing,” Catherine says. “Through research, we discovered many distant relatives who have/had ALS. We also now suspect multiple immediate relatives of having had undiagnosed FTD, which can often be misdiagnosed as mental illness.”
Because Catherine’s family has an R15L mutation on the CHCHD10 gene, which is autosomal dominant, a carrier has a 50/50 chance of passing it on to his or her children.
In 2014, just before the Ice Bucket Challenge became a social media craze, Catherine’s son Anthony Carbajal was diagnosed with ALS at the age of 26. “It was hands down the most difficult and emotionally painful day of my life. Just thinking about it brings tears to my eyes,” Catherine says. “I’m so proud of how he has handled having the disease and has helped raise awareness worldwide.”
His viral Ice Bucket Challenge was viewed by more than 17 million people, and he was invited to be on The Ellen DeGeneres Show multiple times. Catherine, who raised her two younger brothers after her mother’s diagnosis along with her own two children, says she and Anthony are the only ones with ALS, and she adds, “I’m praying it stays that way.”
When she was initially diagnosed, Catherine set her goal to “live long enough to witness my children graduate from school and become adults.” She has exceeded that – “although my brother, Michael, [whom she considers one of her own] still has a couple years left of college. He’s on the decade plan” – and set a new one: “I fully intend to live to see the day when a cure has been discovered.”
Describing her disease progression as “blessedly slow yet unrelenting,” Catherine nevertheless faced a difficult decision in 2016. Despite being adamantly against having a tracheostomy, she says, “much to the relief of my family, I changed my mind.”
On August 17, 2016, her fourteenth wedding anniversary, Catherine chose to give her husband the “gift of life.”
She says, “As it turned out, I just wasn’t done living yet. My husband and I were, and are, committed to fighting to grow old together, to spending many, many more years driving each other crazy.”
Complications from the operation irreparably weakened her remaining muscle strength. “As a result, I returned home nearly paralyzed with lifestyle changes which were greater than I had originally anticipated,” she says. “I suppose being in such a state was inevitable with ALS anyway, but I had no desire or intention of hurrying it along.”
Still, she has “zero regrets.” Noting that a person with ALS with a trach can live a normal lifespan, she says she’s got a lot of life left. “While my physical body has further weakened, the essence of who I am lies within, and that remains as strong as ever. It took time to adapt to the physical and lifestyle changes, but I have now adjusted and am living a meaningful and fulfilling life. More and more so with each passing day.”
That includes a commitment to advocating for the ALS community. She is passionate about a number of issues, including expanding Medicare home health services to a level comparable to that offered through Medicaid; access to augmentative and alternative communication (AAC) technologies; the National ALS Registry; and, of course, discovering effective treatments and cures.
“Knowledge and awareness are critical in raising funds for research, understanding the specific needs of someone with ALS, being able to treat those needs, creating multidisciplinary clinics that specialize in ALS care, and generating interest from the research world to unlock the mysteries of ALS while working to find viable treatments and, ultimately, a cure. Continued education also ensures the newly diagnosed don’t feel isolated and alone,” she says.
Catherine has seen a lot of change in the years she’s been living with ALS, and she’s optimistic about the future.
“There has never been a greater time in history for a person with ALS to have hope. Medical science is making new discoveries at an unprecedented rate, and technological advancements allow us to continue participating in life.”
Catherine Scott lives in California and is retired due to disability. She has a project management background, and she’s a dedicated and passionate advocate for the ALS community, as well as the larger neuromuscular community. She is committed to living a meaningful and fulfilling life despite physical limitations and is doing all she can to help others do the same. She recently joined the Team Gleason Board of Directors and is a member of MDA’s National Community Advisory Committee.
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