Scientists experiment in labs, doctors diagnose and adjust meds, company folks make drugs and run trials, and caregivers deal with the disease at home. People work, often extremely hard, in their respective corner of the Alzheimer’s world, yet they rarely come together under one roof to tell the others what it’s really like. In particular, when do researchers get to hear from study participants how deeply their families have struggled for decades and what kinds of services would make the repeated poking, measuring, and scanning of a six-year research study well worth their while?
Exactly such a conversation took place at the 7th Leonard Berg Symposium held 1-2 October 2009 at Washington University, St. Louis, Missouri (see Part 1 of this series). Unsurprisingly, perhaps, this hour stirred much more emotion than do the usual proceedings in scientific auditoriums. As two family representatives briefed the audience, both their tears and their dignity prompted spontaneous applause and standing ovations from the 214 people in attendance, most of them scientists.
The two women have seats on the steering committee of the Dominantly Inherited Alzheimer’s Network, and in this role help shape this study as it unfolds. In their talks (see below), they urged DIAN researchers to find ways to engage the participating families in broader ways. They made clear that having dominantly inherited AD reappear in generation after generation casts a wrenching pall on all family members, not just the affected relatives. Consequently, DIAN would do well to provide psychological and emotional counseling and support for people at risk for dominantly inherited AD. This could be done in person, through call-in support groups, or through protected social networking forums that build a virtual community for study participants spread across the globe. If this kind of support accompanied the study itself, one caregiver said, families would view DIAN participation as less stressful, would become invested in the effort, and more readily return for assessments. Families also need practical advice on issues such as obtaining long-term care insurance policies or persuading the Social Security agency that their loved ones qualify for disability even if they are only 45 and can still walk and talk. For their part, DIAN scientists said they would explore ways for DIAN participants to connect and speak openly about their experience without having to go through the DIAN investigators. Below are excerpts of their presentations.
Family Representative 1 (Name Withheld)
“I am showing you here a picture of my grandmother and my mother. And here’s my special auntie, mom’s oldest sister. All three were teachers. I am a teacher. All have had AD. I am at risk.
“I am 40, a wife, a mom of three young boys. I came to the U.S. on a scholarship to study special education and currently am a full-time teacher. I worked part-time in my state’s chapter of the Alzheimer’s Association, doing outreach to Latino families. Then that was becoming too much—to deal with AD all day at work and go home and deal with it personally. I needed to go back to a more normal life.
“I am mother, daughter, sister, niece, granddaughter, cousin—and the disease marks all these relationships. I work a lot on my family genealogy and it, too, is threaded through with this disease.
“I started to learn about AD from my grandmother. I did not know her well. She was in her early sixties and already very sick when I was a child. The onset in my family is in the fifties. We played school and I thought it was a game, but mom told me that granny really believed we were her students.
“I had an inkling about my mom very early on in her course. That was terrible, because I’d seen the emotional toll the disease took on my mom, who cared for grandma while also blaming her. I helped take care of grandma. One of my secrets for many years was that I was relieved when she died. I was 14 and felt so very guilty. To this day this memory makes me cry. But she was granted the gift of death. In my family the disease runs its course for some 20 years after it has fully manifested. It initially moves slowly, and that is good for us because we get to have our loved ones with us longer. But the final dreadful stages drag on for a long time.
“Alzheimer disease was stigmatized. We took care of grandma without talking about it. I found that people were hiding their sick family members. Not intentionally, but you just did not talk about it. Even in my own extended family, people have gone through it alone all the way to death. They did not know, and did not want to know, that other relatives were going through the same thing, living just a few miles away.
“In my family, people believe it is a curse visited on the family. That’s common in my culture. But even independent of culture, fear, paranoia, and confusion are all very common in families in our situation.
“We need support to deal with those feelings, particularly when we decide to participate in a research study and face our risk and fears head-on. I would welcome counseling or a support group for people like me. There is not much out there for us.
“By participating in DIAN, we are trailblazing the way into a new era of medicine. But we also need research on the psychological impact on families of autosomal-dominant Alzheimer disease. I don't know if I have the gene. No one in my family has found out. I have not because I would not do anything differently if I knew. My sister wants to know yesterday. I will want to know at some point in the future.
“What do the families participating in DIAN need? Counseling. Psychological and emotional support. Please offer it throughout the length of the study. To the researchers, I say: I am sure that if you build a good relationship with us, we will want to come back. Taking care of us in this way can prevent catastrophic outcomes.
“Around our coffee table, we are afraid of loss of insurance. We need guidance on how to navigate that issue. We are afraid of breach of privacy—please handle our data with the greatest care.
“I spend a lot of time wondering how my participation in such a study will affect my children in the future? Please take time thinking this through with us, and explaining where you can.
“From our perspective, anything and everything that makes the process more comfortable or less stressful will help the study be a success.”
“My husband Vince and I started our search for understanding AD in the 1960s. His mom had had it. She was diagnosed with ‘hardening of the arteries,’ the same diagnosis given to her own mom and three brothers before. Vince knew that was not it. They had died at an early age in state mental institutions or nursing homes. The relatives in his mom’s generation refused to help us. They would not talk about a mental illness. We got more help from the next generation, when several cousins died in their forties and fifties. They allowed autopsies and we found out the genetic cause.
“Then in the early 1980s, I noticed Vince’s problems. He was 39 and a college teacher. Four years later he could no longer teach. We have six children. He enrolled in an NIH study right away and got evaluated every six months. He did every test they had available at that time. At his first visit in 1983 his IQ was 136; by his last visit in 1987 it was below 50.
“He learned all he could about AD. When he could no longer drive, he rode his bike around town. It was hard for him to give up his car, but he had gotten into an accident. He read and we played Scrabble as much as we could to preserve what was still there.
“It was not easy. Our children were very aware. They were teenagers, with all the typical teenage issues, and the youngest was in kindergarten when Vince got sick. He first read to her, then she read to him when he no longer could.
“He got very angry. As with every large family, there was a lot of noise and commotion in our house, and he could not cope with that. It got hard to care for him. Stress and noise upset him. He developed seizures. In 1987, we had to place him in a nursing home. He no longer knew us and had become violent with the kids and me. That was exactly what he’d worried about early on.
“By this time, his brother already was in a nursing home with a feeding tube and was being treated for pneumonia three, four times a year. This went on many years. Vince had seen this in the years before and decided against such treatment. I made sure this would not happen to him. I obtained power of attorney and made clear that we wished no treatment other than comfort. Thankfully, he got pneumonia at some point and passed soon after surrounded by loving care and his family.
”My children are brave. They will be part of the DIAN study. I have grandchildren. My brother-in-law’s children, of course, are facing this issue, too, as are many more in Vince’s extended family.
“Alzheimer disease has consumed half of my lifetime. The toll on families is devastating, causing many additional illnesses. One problem is getting the affected on disability. This can take over a year. The wait causes immense stress and cost, and worry about losing the home or meeting day-to-day expenses. That can be overwhelming.
“I feel helplessness, sadness, fear, anger, and gratitude. I am helpless and sad for my children. I am angry because for years I have been told the cure is 10 years away, but that has not been true. I am angry as more of us get diagnosed. I am grateful for my family. I have found that family support is crucial. The parts of my extended family that support each other actively and openly are doing so much better. I am also grateful to be involved in research that is going on. We will continue to give until the answer is found. We will go anywhere and do anything until a treatment is found to stop this horrible disease. We understand it takes research participation to get there.”
Heinrichs has written a book chapter about Alzheimer’s that is available through Google books.
And here is a third voice, from a caregiver and mother of three who brought her affected husband to the symposium. When asked what DIAN could do to ensure that her children would want to enroll and keep returning for visits and invasive procedures, she said: “The single most important thing DIAN has to do to ensure return visits is to offer continued hope for the future of a world without Alzheimer’s, or at least the ability to delay the onset of the disease. The researchers and participants need to have open lines of communication and form a partnership working together for the common goal. Part of offering hope is allowing participants the first opportunity for new treatments that have been deemed safe. As an unaffected parent, I have encouraged my children to participate because I feel it is their responsibility to themselves, their families, their communities, and the world.”
Vice versa, the Leonard Berg Symposium also taught the attending families about the complexity of the science underlying dominantly inherited AD (see Parts 3, 4, 5, and 6 of this series), as well a drug company perspective on the promise and challenges of designing treatment and prevention trials for their loved ones (see Part 7 of this series).—Gabrielle Strobel.
- St. Louis: Scientists, Families Target Preclinical Detection, Trials
- St. Louis: Cognition Pre-dementia—Like eFAD, Like LOAD?
- St. Louis: Biomarkers Pre-dementia—Like eFAD, Like LOAD?
- St. Louis: Is Rare Familial Alzheimer’s a Model for the Millions?
- St. Louis: Imaging Preclinical AD—Can You See it Coming in the Brain?
- St. Louis: An eFAD Prevention Trial—One Man’s View