Inheriting ALS: An Intimate Look At The Reality Of Familial ALS

By: Emma Comery, SimpliHere

My parents have this small blue throw pillow sitting on their living room couch. It reads, My family tree is full of nuts. A gift from a cousin — a charming, self-deprecating little novelty. My mind flashes back to that pillow again and again while I’m talking to Catherine Kettner, ALS patient, caregiver, and advocate.

Because if Catherine Kettner had that pillow on her couch, it would read, My family tree is full of ALS.

While most of us share things like eye color, height, and hand-me-downs with our relatives, the Kettners also share ALS, or amyotrophic lateral sclerosis, a progressive neurodegenerative disease affects nerve cells in the brain and spinal cord, shutting down muscle strength and control. Patients lose mobility from the tip of their pinky finger to the muscles they use the swallow. Verbal communication becomes a thing of the past, and many patients rely on alternative and augmentative communication devices. And yet, throughout the agonizing, demoralizing breakdown of the body, the mind stays completely intact. Patients can’t speak, but they can think, feel, observe…essentially trapped inside their bodies. For some it happens quickly; for others it can take up to ten years. For everyone, it is fatal.

“The hereditary chart of our family would boggle your mind,” Catherine told me over the phone. “It’s filled with heartache and pain and sorrow. But there’s also support. And there’s good parts of the story, too.”

That story began in 1997 when Cathy’s father was diagnosed with ALS. He passed away two years later. Naturally, his diagnosis inspired his family towards ALS research and reflection, and the family later determined that two of his aunts also had ALS, though neither had ever been diagnosed. Bizarre, but for sure, since a cornerstone of general ALS perception is that it’s a disease without a known common denominator, that it attacks randomly, sporadically. But one day when Cathy and her sister Peggy were lounging on the beach, an indisputable pattern reared its fatal head.

Peggy pointed to the muscles jumping under her skin and said, “No one’s going to diagnose it yet, but I have ALS.” She was right. Peggy was diagnosed in 2002. Ten years later, brother Jim and sister Cindy were diagnosed, followed by Cathy herself in 2018, and brother Richard in 2019. Two cousins were also diagnosed in the past decade.

That makes eight. Eight ALS diagnoses in one immediate family.

The idea of eight ALS patients in the same immediate family feels too big to wrap one’s head around. Isn’t ALS supposed to be the disease that doesn’t discriminate? The disease that doesn’t have a known cause? Well, then how can it be hereditary?

Cathy and her family members with ALS have a specific variation of ALS known as Familial ALS (as compared to Sporadic ALS, which is the more common and random variation). Familial ALS accounts for approximately 5–10% of ALS patients, and it occurs when the patient inherits a specific mutated gene from a parent. According to the US National Library of Medicine, this lesser-known vein of ALS is “caused by mutations in one of several genes. The pattern of inheritance varies depending on the gene involved. Most cases are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.” In simple terms, children of Familial ALS patients have a 50/50 chance of getting ALS, too.

“Our family motto,” Cathy says, “is, ‘You either have ALS or you help those who have it.’” Every member of her family is committed to helping those affected by ALS, whether by serving as a caregiver or organizing walks to raise awareness and research funds. Fighting ALS is an all-in family project. Cathy cites her brother Jim for saying, “In many ways, ALS keeps us strong and together.”

Cathy has recently been diagnosed with ALS herself, but the majority of her experience with the disease has been as a caregiver for her family members, and she knows the caregiver truth: there is no time off, and you can’t do it alone. “Can you imagine tying your hands behind your back and living like that for ten years?” she says. “They can’t put on their glasses, blow their noise, toilet themselves. They need help putting on respiratory equipment. My brother Jim is on a feeding tube that needs to be cleaned out. His wife is an amazing caregiver but you can’t do it along. You need to do the shopping, and you need a day to put your feet up and read a book. But that doesn’t happen with ALS.” Allowing and asking others to help is non-negotiable, especially because not everyone is going to be a natural caregiver. So if you can help with laundry or lawn mowing or house cleaning, she says, that is just as valuable.

Her advice to those serving as caregivers is to remember this: “It’s harder for the person with ALS than it is for the person assisting. The patient has to give up basic dignities.”

While Cathy may have this caregiving gig down pat, there’s one reality of Familial ALS hit harder than anything else: telling her children that she, too, has ALS. “You’re not only telling them that their mother has a fatal disease,” she explains. “You’re telling them that now they have a 50/50 chance of getting it themselves, and there’s nothing that weighs on a mother’s heart more heavily than giving your kids something that they can’t battle.”

Currently, there is no cure for ALS. If Cathy’s children get it, they will die from it. That’s why funding for research, drug trials, and treatment therapies is absolutely vital.

“It’s harder for the person with ALS than it is for the person assisting. The patient has to give up basic dignities.”

Familiar as she is with ALS and the neurodegenerative process, Cathy expresses feelings of gratitude that she and her husband, Tim, are in a place of financial security and have lots of family support. These two factors make her feel more prepared to take on the disease. And, unlike most patients and families, she’s seen it before. She understands the symptoms and the impact it will have on her life moving forward. Her heart breaks for the young people diagnosed with ALS (many patients are diagnosed in their early 40s, or even their 30s). “How do they even have time to prepare?” she wonders. “Especially when it is sporadic, and they’re already moved into that second stage when they’re losing their ability to walk, use their arms, swallow…they’ve had to quit their job and their spouse is trying to keep their job and be a caregiver. They’re trying to pay the mortgage and the medical bills, and they have to wait five months to get their social security benefits. For most of them, their kids will bury their parents within three years.”

It’s for those patients as much as her own family that Cathy advocates by speaking at events and being an active member of the ALS Association Wisconsin Chapter for more than ten years, where she helps organize the annual walk. “We need to bring to light what ALS means for families and how devastating it is…and that there’s nothing stopping it right now.”

To join the fight against ALS, become an advocate and raise your voice to spread awareness of this disease’ extremely debilitating impact on families in the US and around the globe.

About SimpliHere

SimpliHere empowers individuals who are impacted by neurodegenerative diseases such as ALS to communicate and engage within the disease community. SimpliHere does this through a mobile service that connects patients with various communities and provides them with augmentative and alternative communications capabilities. The mission of SimpliHere is to help families cope with the impact of these diseases and provide a way for them to connect and contribute.

SimpliHere is a mobile app startup that simplifies caregiving for those impacted by ALS and other neurodegenerative diseases.

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