January 2009

Mornings with Ruth and Ted

Parents of young children will immediately recognize the morning routine at Ruth and Ted Simmons’ Hamilton home.

While Ruth makes breakfast, she checks in on her husband to see how he’s managing.

Ruth and Ted Simmons at home in Hamilton. (Photo by John Rennison)

When Ted finally comes into the kitchen, sometimes he’s dressed, sometimes not. Some mornings he’ll be pleased with what she’s made for breakfast, others he’ll complain.

And when it’s time to leave the house, he may need to be reminded of where they’re going.

Ted, 79, has Alzheimer’s disease.

“I call the whole process we’re going through right now backwards kindergarten,” says Ruth, a retired teacher. “He’s unlearning things about the same order and rate as my kindergarten kids learned them.”

He’s not just being a jerk

Ruth has worked hard since Ted was diagnosed in 2005 to learn all she can about his illness. He first began showing symptoms by missing appointments and making significant banking errors. She’d get angry with him.

“I didn’t know what was going on and it made me really mad,” she recalls. “I’d say, ‘Listen to what I’m telling you.’ But I didn’t know his brain wasn’t working. I thought he was just being a jerk.”

Ruth, who speaks regularly at community groups about what it’s like to care for someone with Alzheimer’s disease, says she can’t stress this point enough.

“They will blame you for things. If you take that personally, you’re a basket case all the time. That’s Alzheimer’s. That’s what they do. What a difference it makes when you know what’s going on.”

It’s OK to be overwhelmed

Ruth is also a strong advocate of community programs for caregivers: “Get help. Get all the help you can get,” she says.

A personal support worker visits their home nine hours a week; Ted attends an adult care programs at the Alzheimer Society of Hamilton-Halton three times a week, and when she needs it, Ruth uses overnight respite care.

Her four children and brother also pitch in.

Last summer, she and her children visited local long-term care homes, picking out two they thought would suit Ted once the time comes. While Ruth wants her husband with her as long as possible, she has accepted there will come a day when she’ll need even more help.

“You need to recognize your inability to do it all,” she says. ”But you know what? We tend not to do that, so we break down. It’s OK to be overwhelmed. It’s not OK to be a superwoman.”

September 2009

Meet our researchers: Ekaterina Rogaeva

The possibilities for human genetic variation surpass 10 million, yet it’s Dr. Ekaterina Rogaeva’s job to track down the ones that boost our risk of Alzheimer’s disease.

“Our main task as geneticists is to ask, ‘Is it a guilty or innocent variation?’ says Dr. Rogaeva, a researcher with University of Toronto’s Centre for Research in Neurodegenerative Diseases. “Then we have to ask, ‘Is it enough to have the variation to cause Alzheimer’s disease, or does it act only in combination with other factors?’”

Ekaterina Rogaeva in her lab. (Photo by Steve McKinley)

Despite the mind-boggling challenge, Dr. Rogaeva was instrumental in figuring out that a mutated form of the gene SORL1 increases the risk of late-onset Alzheimer’s disease by 10 to 20 per cent.

SORL1 directs the traffic of amyloid precursor protein (APP) inside nerve cells of the brain.

When the gene is working properly, it diverts APP into certain areas of the cell. But in its mutated form, the gene tells APP to accumulate in a different region of the cell, where it degrades into abnormal protein fragments responsible for Alzheimer’s disease.

Dr. Rogaeva and her team sifted through 6,000 DNA samples to uncover the risk involved in carrying this particular variation of SORL1.

She also helped discover the mutated form of two presenilin genes – PS1 and PS2 – responsible for the most aggressive early-onset form of the disease.

While neither breakthrough has immediate implications for those suffering from Alzheimer’s disease, it will be meaningful to those at risk for the debilitating disease in the future.

“Once treatment is available – and I believe we will have treatment, there are so many people working on it – early diagnosis will be extremely important,” says Dr. Rogaeva.

That’s because most people are diagnosed only after the disease has progressed and many brain cells have already died. Once these cells are dead, there is nothing for the drug to treat.

Identifying genes that increase the risk of Alzheimer’s is also important in more direct ways. “It gives us another therapeutic target,” says Dr. Rogaeva. “Can we fix the gene? That work is going on in this centre right now.”

In the meantime, she continues to investigate other potential genetic links to neurodegenerative disease.

Dr. Rogaeva is currently working with researchers at Columbia University in New York to analyze complete genetic scans of 1,000 people to pinpoint more guilty variations. She is also investigating possible genetic links between Alzheimer’s disease and other neurodegenerative illnesses such as Parkinson’s disease and frontal temporal dementia.

“Thirty per cent of people with Parkinson’s disease end up having Alzheimer’s disease. Is there a common genetic factor, or is it just the way disease progresses as people lose brain cells?” she says, clearly eager to get to the bottom of it.

“It’s never boring. I love this job.”

August 2009

Meet our researchers:  Adam Proctor

If Alzheimer’s drug development were a military campaign, Adam Proctor would be on the reconnaissance team gathering intelligence on the enemy before battle.

As a lab technician at the University of Toronto’s Centre for Research in Neurodegenerative Diseases, Proctor helps piece together the enemy’s strategy. Specifically, he helps figure out how a group of four proteins called gamma-secretase is able to snip a long protein into fragments called beta-amyloid.

"Alzheimer's is a really difficult disease to figure out. It sounds silly to say, but if it were easy, it would be cured by now," says Adam Proctor. (Photo by John Rennison)

Why is that important? Because beta-amyloid accumulates in the brain to form the plaques thought to be responsible for the disease.

“If you get a result from an experiment that’s really good, you wonder if this is the next step that will lead us down a path to cure the disease,” says Proctor, 26.

Proctor, who has a Masters degree in molecular biotechnology, has been fascinated by proteins and human disease since taking an advanced biology class in high school.

That’s where he first learned the secret to understanding how proteins work: their shape. Proteins, like gamma-secretase, can only interact with other proteins if they have the right shape — sort of like a key fitting into a lock.

“Everything in molecular biology is determined by shape,” says Proctor. “Molecular biology is about stuff bumping into other stuff. If it fits together, something happens. If it doesn’t, nothing happens.”

Proctor’s job at the Centre is to grow cells that have been genetically altered to produce large quantities of gamma-secretase proteins. He then hands over those proteins to researchers at the Centre who try to determine their shape.

Once they figure that out, it may one day be possible to develop drugs to alter those shapes so that the gamma-secretase proteins can no longer do their destructive work.

It is, Proctor says, basic research that is still years away from yielding effective treatment for Alzheimer’s disease. But understanding the enemy is half the battle.

“Alzheimer’s is a really difficult disease to figure out. It sounds silly to say, but if it were easy, it would be cured by now,” he says. “But we are making progress. There is definitely hope out there.”

The Centre for Research in Neurodegenerative Diseases provides international leadership in research, education and discovery related to neurodegenerative diseases. The Alzheimer Society of Ontario is a co-founder and lead funder of the Centre.

Sporting glasses and a trim gray beard, David Knight looks very much like what he is – a retired geography professor. But pop him in a tux, stand him in front of a couple of kettle drums and he is an orchestra musician.

It’s an identity the 67-year-old Knight has worked hard to maintain since he was diagnosed six years ago with Early Stage Alzheimer’s disease.

The Elora, Ontario man performed timpani, also known as kettle drums, in his first concert when he was 18. Today, he plays in three orchestras and tutors budding percussionists.

“Initially, I thought I should drop out,” recalls Knight. ”I told the conductors about my diagnosis and they were very supportive, so I carried on. Music speaks to my soul, and performing it adds another special dimension.”

That’s not to say Knight hasn’t struggled. During rehearsals, conductors often stop and ask the musicians to resume playing from where they began. When Knight had to admit he couldn’t remember where that was, the conductors learned to become more precise.

“I’ve developed new ways of dealing with music,” he says. “Sometimes when I look at music, it’s like I’m seeing it for the first time even though I’ve seen it before. So I write notes on the music to remind myself how to play it. Music calls on so many parts of the brain; I think it’s been very important for me.”

Like any good academic, Knight has read the studies suggesting musical memory remains for those even in the advanced stages of dementia.

The award-winning work of Queen’s University professors Lola Cuddy and Jacalyn Duffin for example, is enlightening.

In 2005, they published in the journal Medical Hypotheses results of their study of an 84-year-old woman with Alzheimer’s disease who had severe problems in memory, language and cognition. Yet she could respond to familiar melodies by singing along and often continuing to sing the words after the music had stopped. She never responded to unfamiliar melodies, and responded to distorted melodies with surprise, laughter and sometimes even an exclamation of “Oh dear!”

In fact, the battery of music and memory tests she underwent showed her scores on par with those attained by others her age with similar musical backgrounds, but no dementia. While Cuddy says more research is needed before it’s known whether musical memory is spared in all cases of dementia, preliminary findings are encouraging.

“After we published, we got tons of emails from caregivers across the continent and they said, ‘I know what you’re talking about,’” says Cuddy, a professor of psychology who directs the music cognition lab at Queen’s. ”It may allow a path of communication when language communication may not be working,”

Perhaps just as significantly, the 84-year-old woman seemed to genuinely enjoy the music.

In fact, art in all its forms offers people with dementia the opportunity for socialization, self-expression and communication. That’s why so many support programs – including those offered by Alzheimer Societies in Cornwall, Windsor-Essex and Kingston – centre on the arts.

At the Alzheimer Society of Cornwall & District, participants in the art therapy program have given permission for their paintings to be displayed at local festivals.

Whereas festival-goers often give the Society’s information table a wide berth, the art intrigues them and they stop by to chat. “The art has acted as an incredible bridge to get people to speak about dementia in their family,” says executive director Shelley Vaillancourt.

She says clients will often use colour and shape to express feelings. Their work will also sometimes trigger memories and get them talking about events in their lives that even their family didn’t know about, giving loved ones fresh insight into who they are.

Vaillancourt recalls a client who created a piece of art around the word kindness. “He gave it to his wife and said thanks for your kindness. Some day I may not be able to tell you that, but I need you to know.”

At the Alzheimer Society of Windsor-Essex County, where Sylvia Reaume attends the arts and music program, her husband Rick sees the difference it makes. While Sylvia now talks very little and is easily confused, Rick says she returns from the Society’s art program refreshed.

“When she comes home, she feels better. She’ll say, ‘I had a good day.’ I see a smile on her face and she’ll laugh a little bit. I can see a difference,” says Rick. ”She goes there three days a week. My life line is the Alzheimer Society.”

At the Alzheimer Society of Kingston, the art class is “a chance for people to do an organized activity and chat and bring out associated memories,” says Cassandra Brown, who helps lead the program and also works as a research assistant in Professor Cuddy’s music cognition lab.

When she asked her group to bring in photos to serve as inspiration for art, one man brought an old shot of him and his family.

“It was from his time in Quebec when his family was young and he remembered how he and his kids used to play in the snow. He seemed pretty happy about drawing that connection,” says Brown.

The Alzheimer Society of Ontario raises money for groundbreaking research into the treatment and cure for Alzheimer’s disease and related dementias. Make a difference in your life and in the lives of others. Learn more about the risk factors and how you can support research.