Forget me not: Living with early-onset Alzheimer's
By Grace Niewijk
She has spent much of her life making music and sharing it with others. She was in many handbell choirs, which she says she still remembers, and ran music workshops all across New England. She taught music in Bangor elementary schools for more than 20 years. But nine years ago, Jackie Frisk started experiencing uncharacteristic confusion. A principal at one of the schools expressed concern that she was having trouble finding her classrooms.
Thom Frisk, Jackie Frisk’s husband, started seeking answers from medical professionals. At first, they thought Thom’s worries might be unfounded – that he might have unrealistic expectations of his wife. Eventually, the Frisks got a referral to a neurologist, who in turn referred them to a neuropsychologist. Each referral came with an agonizing six- to 10-month waiting period. As they waited, her mental condition only worsened.
“I'm at school one night, and I get a phone call from Jackie,” Thom Frisk recalls sadly. “She can't find her way home from the high school. And she had been going there for various music activities for 25 years.”
Most people associate Alzheimer’s disease with the elderly. Jackie Frisk, however, finally received her diagnosis when she was only fifty-one years old. This form of Alzheimer’s, called early-onset or younger-onset, is rare, accounting for just five percent of all Alzheimer’s cases. Unfortunately, delayed diagnoses like hers can allow the disease to progress beyond the reach of the most effective early-stage interventions.
“The most frustrating part was not getting the help that she needed early on,” says Thom Frisk, “and trying to convince the doctor that this was the problem. And the long wait between each referral.”
Shortly after confirming Jackie Frisk’s diagnosis, a neurologist referred the family to the office of Dr. Cliff Singer, chief of Geriatrics at Bangor’s Acadia Hospital. According to Singer’s recommendations, the Frisks are doing all the right things to slow the remaining progression of her diseases, though she is already into the middle stages of the disease. The couple far exceeds the suggested 150 minutes of exercise per week, walking at least three miles most days. Thom Frisk holds his wife’s hand gently as they walk, pointing out landmarks along the path.
Even though the Frisks don’t expect a treatment for Jackie Frisk to appear, they’re contributing to research that will help others with the disease. Singer has been running a clinical Alzheimer’s research program since 2013, and she has already participated in three clinical trials.
“We've basically been doing the trials, realizing that there's not a whole lot of hope at the present time, but for the next generation,” Thom Frisk explains. “If this is something that's genetically passed on, hopefully there will be some treatment for it for our children if they happen to have it.”
Thom Frisk recommends that other families affected by Alzheimer’s get involved in clinical trials, too.
“It at least makes you feel like you're doing something,” he says. Healthy friends and relatives who want to contribute to the research effort can participate in some clinical trials as controls or donate funds to support basic science research.
In the 30 years since Singer diagnosed his first Alzheimer’s patient, scientific knowledge and his own skill set have grown immensely. Especially for patients who are in the early stages of the disease, he can now offer practical steps.
“I don't feel helpless with this disease anymore, and I can communicate that optimism,” he says.
He hopes to find interventions that can completely halt the disease in the early stages, limiting the effects to mild impairments such as memory loss. Having the ability to prevent progression to full-blown dementia could make an Alzheimer’s diagnosis a lot less scary.
Singer sees translational Alzheimer’s research as a cohesive spectrum, with his clinical work anchoring one end and basic scientists – like those at The Jackson Laboratory – at the other end.
“The best hope for finding real effective therapies, maybe even cures, for Alzheimer's disease lies in the interactions and collaboration between the basic scientist and clinical scientist and clinicians,” he says.
The process starts with basic scientific discoveries; those discoveries and ideas can move forward and develop into clinical protocols, which clinical researchers like Singer can test with patients in rigorous trials.
The Jackson Laboratory has multiple groups of scientists working to understand and treat Alzheimer’s, including the laboratory of JAX Assistant Professor Catherine Kaczorowski, Evnin Family Chair in Alzheimer's Research. Her team is focused on a population that has confused doctors and scientists for years: people who should have Alzheimer’s – due to specific genetic predispositions – but show no signs of the disease.
“Our hypothesis is that they are harboring factors that are protecting their brains,” she says. “That is resilience.” Once Kaczorowski and her team determine what those protective factors are, they’ll be able to work with clinicians like Singer to develop treatments that incorporate this powerful resilience.
JAX® Mice are crucial to Kaczorowski’s ability to study resilience. Without scanning the whole human population, it’s very difficult to discover enough resilient people to study. “They don't come into the clinic because they're doing really well,” she explains. Working with a mouse population that mirrors the genetic diversity of humans will help Kaczorowski identify and study different forms of resilience.
Kaczorowski says her interactions with Alzheimer’s patients have helped give her work meaning and purpose. Singer emphasizes the importance of helping everyone involved understand the human impact of translational research.
“This communication between basic scientists and clinical people is critical for the success of any scientific enterprise, particularly with this disease, which can be very difficult to understand in the abstract until you actually sit down face-to-face with the patients in the families who are trying to cope with this condition,” Singer says.
As for the Frisks, they are coping with the condition by spending time together and enjoying life each day. They take trips, visit art museums and see concerts. When Jackie Frisk smiles, her face loses all confusion or blankness.
Thom Frisk offers advice to friends and family of other Alzheimer’s patients. “Drop in and see them, you know. It doesn't have to be for very long,” he says. “Jackie loves to get cards in the mail. I have baskets of cards around the house that she'll go through for the first time, multiple times.”
“I think the point that is driven home with me on this whole diagnosis is that life is short,” he says. “Right now, our goal is just to be happy.”