John McKenzie was just 49 years old when his wife, Kathy, noticed he was slurring his words on the telephone. She then started hearing it in everyday conversations, but John didn’t think anything was wrong with him.

“My husband owned his own automotive service centre, and someone actually called the Ministry of Labour to say that he’d been drinking on the job, because of the slurring,” recalls Kathy. “Other people would ask me, ‘What’s going on? Has John had a stroke?’”

His garbled speech, combined with confusion, impaired judgement and poor decision-making — he had gotten lost driving home from Toronto one night (a familiar commute), and his business was close to bankruptcy — prompted Kathy to seek out medical intervention. Their family doctor in Barrie, Ont., brushed off her concerns, so Kathy began looking for a second opinion.

Following an extensive search for a new doctor, John was sent for an MRI scan, and within a week the couple was consulting with a neurologist. The MRI showed that John’s brain had damage to its frontal lobe.

After ruling out other possible causes, John received a diagnosis of frontotemporal dementia (FTD) in 2016, six years after the onset of symptoms. He has a secondary diagnosis of primary lateral sclerosis (PLS), a low-spectrum ALS that can co-occur with FTD and impacts motor neurons. In John’s case, his upper motor neurons that control the tongue are affected, accounting for his slurred speech. At the same time, his difficulty recalling words and putting together sentences are symptoms of cognitive impairment from frontotemporal dementia.

“It was a long journey to get help,” says Kathy, who was relieved to finally have a diagnosis that explained John’s unusual symptoms.

What is frontotemporal dementia?

Frontotemporal dementia is a terminal disease that impacts the brain’s frontal and temporal lobes. These lobes are associated with personality, behaviour, emotions, executive function, movement, and speech and language — and FTD causes a progressive and irreversible degeneration of brain cells in these areas.

The disease occurs when abnormal proteins aggregate in brain cells. In about 40 per cent of FTD cases, these proteins clump together because of a family history of dementia, mental illness, or movement challenges, according to the Association for Frontotemporal Degeneration. But for more than half of those diagnosed with FTD, there is no known cause as to why the abnormal proteins accumulate.

Researchers estimate that about 10 per cent of all dementias are FTD. By comparison, Alzheimer’s disease accounts for between 60 to 70 per cent of all dementias.

“In frontotemporal dementia, one of the first identifying changes is personality and judgement, which may translate to going from very proper and polite to suddenly being very rude to others, for example,” says behavioural neurologist Dr. Tiffany Chow. “A lot of families really feel like they can’t recognize the person who has FTD because they are acting in a way that is so unknown or never before seen.”

"Frontotemporal dementia happens early enough that people are still working, and they may still be parenting young children. It's really a crucial time in a person's life."

– Dr. Tiffany Chow

In contrast, Alzheimer’s patients generally hold on to their personality, but not their memory. Memory loss is rarely seen in frontotemporal dementia, says Chow, who is based in La Jolla, California, and works in commercial research in the neuroscience of dementia at IQVIA, a company that manages clinical trials for pharmaceutical companies, including those looking to develop symptomatic and disease-modifying therapies to treat dementia.

Dr. Tiffany Chow

Another major difference between the two types of dementia is age of onset. While Alzheimer’s typically strikes in a person’s 70s, FTD usually begins in middle age, between 45 and 64, according to the Association for Frontotemporal Degeneration. In fact, it’s thought that frontotemporal dementia accounts for 20 per cent of dementia cases in people under 65.

“Frontotemporal dementia happens early enough that people are still working, they may still be parenting young children,” says Chow. “It’s really a crucial time in a person’s life.”

Because it hits early and primarily impacts personality, it’s often misdiagnosed as depression or even Parkinson’s disease. As happened with John, it can take years to get a correct diagnosis.

Symptoms of frontotemporal dementia

In addition to changes in personality, mood, and social or financial judgement, people with FTD might also struggle with planning, organizing, staying focused or completing tasks. This set of mental skills is called executive function and helps us run a household or hold down a job.

Kathy and John McKenzie

John’s frontotemporal dementia was causing him to make poor financial decisions with his business, so Kathy made him retire after the diagnosis. His problem-solving skills were also deteriorating; for example, he could no longer figure out how to attach a Swiffer head to the mop handle.

Other symptoms of frontotemporal dementia can include language, speech and communication problems. Patients might have trouble finding the right word or maintaining a conversation. In addition to slurring his words, John began to struggle with reading comprehension and spelling.

Last, people with FTD can experience movement problems, such as balance issues, more frequent falls, difficulty walking, poor coordination, and tremors or shaking. As his FTD has progressed, John has experienced difficulty swallowing (he now requires a minced diet to prevent choking). He also developed weakness in his right hand and arm that impacts his fine-motor coordination and makes it difficult to open packages.

John is still functioning well enough to continue living at home with Kathy, who has assumed the role of caregiver.

“This is not what I envisioned for our retirement. I thought we would be travelling and having fun,” says Kathy. “It’s hard to even get a real hug [from John] anymore, but I understand it’s the FTD that’s doing it.”

A frontotemporal dementia diagnosis changes lives

Not only does FTD impact those who are experiencing symptoms, it also has repercussions for family members who must adapt to a new relationship dynamic with their loved one.

Naomi Mison found herself in this situation in 2007 when she was just 21. Her mom, Frances Mison, was living in England at the time and experienced what Naomi describes as a “psychotic break” that would change the course of both of their lives.

After Frances was found wandering around a train station in her robe, she was placed in a mental health institution. Naomi and her brother brought their mom back to Edmonton to get her help — Frances had been living with bipolar disorder and depression for years, and they assumed her latest behaviours were stemming from mental health problems.

But this time, Frances’ symptoms — which included delusions and erratic sleeping patterns — were so severe that she was admitted to Alberta Hospital Edmonton. A PET scan showed brain atrophy and she was diagnosed with frontotemporal dementia at age 54.

"In the blink of an eye I became the mother to my mother, and I don’t feel that at that time in your life [early 20s] you’re ready to assume that kind of responsibility. For me it was life-altering."

– Naomi Mison

Naomi and Frances Mison

Frances’s diagnosis permanently changed her and her children’s lives. Neither Naomi nor her brother, who had a new baby, were in a position to care for their mom and manage her challenging behaviours, so she was placed into long-term care. Naomi worked with a lawyer to get guardianship and power of attorney so she could make decisions on her mother’s behalf.

“In the blink of an eye I became the mother to my mother, and I don’t feel that at that time in your life [early 20s] you’re ready to assume that kind of responsibility,” says Naomi. “For me it was life-altering.”

Not only was she in the awkward position of making life-changing decisions for her mom, like placing her in a care home, Naomi put her own plans on hold. Instead of pursuing her dream to travel the world, she stayed in Edmonton to help support Frances.

It was also a huge change for Frances, who went from living independently in a foreign country to spending her days in long-term care with people decades older. Due to the risk of wandering, she was placed in the locked unit. Naomi says it was obvious her mom was unhappy and confused, but she couldn’t articulate her feelings.

“In clinical practice when we make [an FTD] diagnosis, we try to warn families about what this diagnosis can mean,” says Chow. “Part of it is to protect the finances, limiting access to funds, limiting access to the car. A person with Alzheimer’s disease may have been deciding not to drive anyway. But these are younger people who want to drive around and be independent and they don’t have that much awareness that they’ve changed.”

After John’s diagnosis, Kathy got power of attorney over her husband, with John’s consent, and she also went to the bank to secure their finances. Her relationship with John changed from wife to caregiver, which they both found frustrating. But the biggest blow came when the neurologist decided it was time for John to give up his driver’s license in 2018.

“That was the absolute worst for him,” recalls Kathy, who says John knew he had dementia, but was in denial. “It was a big scene in the parking lot of the hospital.”

The gradual loss of his independence has resulted in what Kathy calls “temper tantrums.” Reacting this way is not unusual, says Chow.

“It’s hard for people with FTD to accept that they’ve changed enough that they are losing privileges,” Chow explains. “You have lost the privilege to work, you have lost the privilege to eat what you want, you have lost the privilege to spend all that you want, you cannot drive a car.”

Living with frontotemporal dementia

There’s currently no cure for or treatment to stop the progression of frontotemporal dementia, but medication and therapy to manage symptoms can help. And there are support groups and resources available for caregivers.

Kathy joined both an ALS support group and an Alzheimer’s support group and says she always learns something new or relatable during the virtual sessions. In fact, the Alzheimer’s Society suggested music therapy for John because he’s a self-described “metalhead” who likes playing bass guitar. He listens to music and plays guitar during each session with Music Therapy Services of Simcoe County and is even learning how to read sheet music. The goal of the sessions is to keep John engaged in something he enjoys. An added benefit is that music therapy boosts his mood.

“He loves it,” says Kathy. “When he comes home, he’s downstairs practicing what he’s learned. He’s using his brain and he’s in a happier mood, which lasts a couple days.”

John also takes amitriptyline, which helps ease teeth grinding and drooling. For the time being, Kathy is able to manage his temper tantrums and lack of empathy without a prescription, but some patients with FTD do take medications to temper aggression, relieve symptoms of OCD or anxiety or boost a depressed mood.

Doctors must take a very individualized approach when treating each patient, explains Chow. Ideally the practitioner will work with a multidisciplinary team to evaluate a patient’s symptoms and come up with a management plan. Frances’ doctors, for instance, have her taking galantamine, a drug commonly used to combat the cognitive decline associated with dementia.

"Things don’t change without building awareness, so that’s part of why I’ve been more vocal in the last five years. I’ve found a lot of solace in advocacy, and finding other people ignited by the fire of wanting change."

– Naomi Mison

From caregiver to advocate

After a decade of caring for her mom, both in Edmonton and more recently long-distance from Kelowna, Naomi realized the best medicine for her, personally, was to share their story. She started a blog called Discuss Dementia in the hope of reaching other young caregivers like herself. She has been bolstered by people who have thanked her for sharing her journey, and who feel camaraderie knowing they are not alone.

Naomi and Frances Mison

Naomi also felt like there weren’t (and still aren’t) a lot of supports in place for dementia when it affects people younger than 65. No one handed her a binder filled with dementia hacks and resources to help her mom, so she’d like to fill that gap.

In addition to her blog, Naomi is a member of the Leadership Group of Caregivers with the Alzheimer’s Society of BC. She has also participated as a panel speaker during both Alzheimer’s Awareness Month in Canada (January) and World Alzheimer’s Month (September). These efforts have helped raise awareness about the disease and its impact.

“Things don’t change without building awareness, so that’s part of why I’ve been more vocal in the last five years,” says Naomi. “I’ve found a lot of solace in advocacy, and finding other people ignited by the fire of wanting change.”

Naomi ultimately wants systemic changes to happen. She’d like to write a private members’ bill for caregivers of people living with dementia.

“I would legislate increased support for at-home and respite care,” says Naomi, who felt pressured into placing her mom in long-term care because there wasn’t any community support to keep Frances at home.

What the future holds for frontotemporal dementia

Another person working to spark change is Tiffany Chow. As a medical strategist for IQVIA, she counsels pharmaceutical companies on what it’s like to live with FTD. This way, clinical trials will be designed with those considerations in mind, specifically the behavioural changes and early-onset criteria that would inform recruiting and retaining suitable trial candidates.

Chow points out there are a number of FTD-related clinical trials currently underway (not connected to IQVIA), including trials for disease-modifying therapies to address abnormal tau (protein “tangles” associated with dementia). Other trials address those patients with C9orf72, or progranulin genetic mutations, which are known to cause FTD, and some are using gene therapies to “switch off” unwanted production, or to fill in for missing protein production, that can cause degeneration.

“There’s hope that these trials will reveal something that does work,” Chow says. “It’s been frustrating for families living with FTD that the solutions have eluded us for as long as they have.”

What’s more, funding organizations like the National Institute on Aging are paying more attention to FTD because frontotemporal dementia is a good candidate for emerging cell and gene therapies. Since researchers have identified specific genetic mutations linked to FTD, it has “incentivized the pharmaceutical industry to invest in developing disease-modifying therapies,” explains Chow, because success in treating frontotemporal dementia might finally be within reach.

“That’s giving me a lot of hope,” she says.