Thomas Greene's mother developed AD in her mid-thirties. Thomas decided to end uncertainty about his own genetic status and took a predictive test when he was 31. When it came back positive for an AD mutation, he grabbed the bull by its horns as best he could and sought out opportunities to participate in research. [Thomas Greene is a pseudonym; locations and other identifying information have been altered.] Questions by Gabrielle Strobel.
ARF: Tell me about yourself.
TG: I am 37 and have a young son and a daughter. I live in Illinois and am a business owner.
ARF: How did you become aware that eFAD was in your family?
TG: I realized as a teenager that my mom had it. We all knew little about it at the time. I knew my mom, who was actively ill with it then, had gone to Chicago to meet an AD specialist to do her first tests. I was pretty isolated from it then but saw the changes in her. My father did his best to explain to me what was going on but at that time we did not understand it was a genetic issue. When I was 16, a doctor suggested I do a blood test at some point.
ARF: What do you remember about your mom from that time?
TG: In hindsight, she went through the typical stages. A playful forgetfulness at first, then a period when she repeated things over and over again, and very slowly she lost the ability to do things on her own. She went through periods where she was angry and really nasty to my dad. It was the classic cycle. She died when I was 22.
ARF: You spent your formative years without a mother?
TG: Without question. And my dad worked all the time.
ARF: Now you have your own business. Are you a strong and driven personality?
TG: Yes. You've got to make it somewhere.
ARF: Do you have siblings?
TG: Not from my mother's side. But I do have a cousin whose father also died of it, whom I am close with.
ARF: How has eFAD affected the family dynamic? Made you closer, pushed you apart?
TG: A bit of both. It was difficult because nobody wanted to know their status beside myself. None of my relatives know that I have it, except this cousin who I encouraged to get her test.
ARF: Why did you encourage her?
TG: Because her father had it. I knew she was at risk, and I was already participating in several research studies. She was very worried so I finally told her of my status and persuaded her to find out, too. Now she is happy as can be because she knows she's in the clear.
ARF: Does your cousin have siblings?
TG: A sister. She knows about her sister, but not about me. They don't talk much about AD and I only talk about it with this one cousin.
ARF: You don't want the rest of the family to know you have it?
TG: I'd rather not. It is a burden. It is difficult to understand. It does not bring people close together just because there is a shared problem in the family. All my friends know.
ARF: Why are you open with them?
TG: At a certain point I needed to be open about it, and it was easier to talk with them. With the lack of a family structure, they became my family. With all the testing and research I am doing, I was traveling a lot. At some point your friends ask and I was comfortable telling them. They asked a lot of questions and were sympathetic. They don't treat me differently now.
ARF: Were you not worried about privacy?
TG: Extremely so. When I took my test, I paid for it on my own. It was expensive, about $7,000 with the hospital bill and related expenses, but I wanted to be sure it never got to my insurance. I trust my friends and am self-employed, but insurance was the big issue for me.
ARF: When your mother got ill and eventually passed away, at what point did you start thinking about your own risk?
TG: I started wondering almost immediately when she got sick. But I knew so little about it. It was not until I started talking more with the neurologist who has treated and advised our family for years that I understood the implications and the process.
ARF: When did you decide to get tested yourself?
TG: At 31.
ARF: What made you decide to get the test then?
TG: I don't like surprises. I always thought that if there ever was something that could be done or that I could do for myself, then I should be doing it, rather than just sitting there and waiting for other people to do things. And for that I first had to know.
ARF: You are proactive?
TG: I want to address problems. I started reading more about AD and doing whatever I could myself. Whenever I read about a medication that might help, I started taking that. For a while I just did what I read about, but then the research studies came along and through that process I got much better guidance of what I should be doing for myself. I can now ask the research physicians I work with about things I read that might be protective.
ARF: How were you tested?
TG: Our family's neurologist in Chicago gave me the name of a local neurologist where I live, and told that neurologist what exact test I needed and where to send the blood.
ARF: Did you have formal genetic counseling?
TG: No. I talked to an uncle, who understood familial AD, and to our family neurologist. I did go see a psychiatrist before I took the test because they asked me to, but the psychiatrist wasn't going to change my mind.
ARF: Do you feel the testing process went as well as it could have? Professionals in this area—genetic counselors, clinical geneticists—are leery about people rushing into predictive testing without the proper safeguards of a careful, multidisciplinary process.
TG: That is a secondary issue for me. It boils down to one issue: are you going to be proactive or not? The sooner you know, the sooner you can get busy trying things, whether it is drugs or research studies. If I had not found out, I would not be where I am today—involved with top doctors who are at the cusp of figuring things out a little bit. I want to be at the edge of research with the best people. I don't want to be in the back of the line when the time comes that some new drug comes out.
ARF: Not everyone shares your view—not the professionals, not all at-risk individuals.
TG: Not knowing if you have the mutation is just as bad as knowing that you have it. Either you spend your life in denial or you spend it in angst and panic wondering if you'll get it. We know the risk is 50 percent. That's huge! If you find out you will get it—well, you probably expected as much anyway, so now you can start dealing with it.
You might even find out you don't have it. My cousin Sabrina was petrified about getting tested. She did not want to know, she was just terrified. She and I talked a lot about it. I told her how much better I feel even though I have it. At least I knew. Eventually she did it and it changed her life. She got rid of this huge fear. She was living a self-destructive lifestyle and the fear was a reason for that, too.
ARF: You are coping extremely well now. How did knowing make you feel at first?
TG: Strangely indifferent. At times, I felt sorry for myself but no more than I already did knowing that my mother had gone through this. It made me sad, but I was already sad watching my mom and knowing full well it could be me. Knowing changed nothing about my feelings because I went in with the attitude of wanting to be active if I had it. Don't forget, having watched my mother basically rot to nothing was pretty good motivation to do something. I don't want that for my kids.
ARF: Did knowing affect your life decisions since then?
TG: It reminded me to really make sure I build a strong relationship with my kids so if I do get AD they will have had good years with me. It also kept me motivated to eat healthier and exercise. It helps me do what's necessary more than if the doctor says it. Actually I think it made me a somewhat better person. I appreciate life more knowing the clock is ticking.
ARF: How did your wife take it?
TG: Harder at first. I did it without her knowledge. She did not want to know, but I did. When she found out, she went through the understandable emotions, but now she supports me. Once you really think about it, the minute you start up the car you are at risk. I might not even make it the 10 to 20 years until my AD will set in.
ARF: Is that when it will start?
TG: Based on my numbers, my family history, and how I have progressed through the tests I take, it looks like my age of onset will be in my fifties.
ARF: Do you have hope of averting it?
TG: Yes. This prediction is just a number based on what we know at this point in time. But I am part of the first wave of people who do all these tests, and so far everything is going well and the signs are positive. It's hard to know now whether I will have the typical trajectory or actually a slower one. For example, I am taking statin drugs and we don't know yet if they will make a difference.
ARF: You are part of a cohort of people who is supposed to find out for everyone else?
TG: Yes. I am a guinea pig. But I believe I might get lucky in the process. The researchers are very honest about not promising this, but of course I am hoping. I am in four studies.
ARF: Tell us about them.
TG: I have one academic neurologist measuring and tracking my spinal fluid; I have a different academic group measuring the amyloid in my brain; I have a third academic group tracking what functional damage is going on in my brain and which areas are affected, and I do a vision study at a fourth university center. Among them, these guys are dissecting me pretty well.
ARF: Do they talk to each other?
TG: I have given them all permission to share data about me. I think they can learn from each other.
ARF: One of the motivations behind our eFAD project is to raise awareness and ease communication among the different groups in the U.S. and around the world who each conduct their own small studies on a handful to a few dozen people in your situation at their respective centers. Each of the studies is interesting but has little power because each is small and isolated from each other. And they are each done a little differently, making it hard to compare and learn more general truths.
TG: I know. They don't have a central place for communication. Sharing information has to be easy for these guys because they are busy people. But they should also feel some urge to see their study as part of a larger effort and not hold their cards close.
ARF: Is research participation a burden or a comfort?
TG: I find it's a comfort. At least with the scientists I am involved with. They are well respected in the research community. When you get to know them you see this research is not just a project to them, but their lives are dedicated to it. Knowing that is comforting. Knowing I can trust them is comforting. I see them very differently from your regular M.D.
I can call these research doctors any time to ask questions and they return my call. They personalize it to an extent.
Is it inconvenient sometimes? Yes, but they do their very best to work around my schedule and support me. They actually thank me for participating and give me the chance to opt out whenever I want, but I won't.
ARF: Are you taking any drugs or doing anything for prevention?
TG: I am taking a statin through one of those studies. That's all in terms of drugs. The study is tracking whether the statin has an effect on some AD-related markers in my spinal fluid.
ARF: Are the investigators sharing results of the study with you along the way?
TG: Yes. I know everything that is going on inside of me from all the studies. Some people do not want to know, but I do. I am not doing this only for everyone else; I am doing it for myself as well. I know this is not standard protocol, but I have insisted that I make my participation contingent on being told things. I won't stay in the dark; I need to be able to follow this along. I don't want surprises.
They have accepted that. So one investigator explains to me what the drug is doing to the markers in my spinal fluid and what he thinks that means. And it's interesting for me because then I can go to the other investigators and tell them that and ask if that is consistent with what they are seeing in their study. So far it has been. That way I am part of the conversation and not just a passive subject. I find that the more involved and engaged and proactive I become, the easier it is for me to deal with this. Otherwise you just wait to die.
ARF: Are you in any other drug trials?
TG: No. I talked with the scientists and agreed not to. I take their point that if I started taking several things at once, it would screw up everybody's study. That's because if I start changing myself too much, it will be hard to track the results. If they asked me to try a second drug so they can see how it affects me in conjunction with the first, then I would do it.
ARF: You respect the judgment of your neurologist?
TG: I have all the confidence in him. He is dedicated to my family.
ARF: Is enough being done to find drugs for AD?
TG: You can never do enough to cure any disease. The lucky thing for AD in general is that there is a gold rush mentality in that the first company to find a good drug is going to make a lot of money. I have no problem with the financial motivation, and the Mercks and Pfizers becoming gazillionaires. Their greed is my cure.
What's wrong is that the young people generally are shut out of trials and get sick and die in the years until we have something. I want drug companies to have all the freedoms they need to develop drugs. Sometimes restrictions impede progress and I worry that that is true here. There needs to be ethical oversight and some guarantees for integrity, but I object when political or faith-driven obstacles are thrown into the way of drug development while we are out there waiting for new drugs to save our lives. Embryonic stem cell research is an example. We need to keep an open mind and create an atmosphere where progress is possible. For example, when a healthy baby can be born to a family with a genetic disease and grow up to live a normal life, that is a wonderful thing. The scientists make that progress possible, and I don't want politicians or interest groups running interference. Faith is not going to cure my problem. Science might. Of course that's my personal opinion.
ARF: Faith might help you accept it?
TG: Yes, but I don't want to accept it. I want it cured.
ARF: Do you find more awareness or ignorance about familial early onset AD?
TG: More ignorance. When I talk to people, they have no idea. AD has been labeled an old person's disease.
ARF: There is awareness of ALS, thanks partly to Lou Gehrig, and of early onset PD, thanks to Michael J. Fox.
TG: Yes, but early onset AD is not talked about as much. We need more public awareness. Early onset AD needs a TV celebrity to promote the cause.
ARF: Have you met anyone else who has it?
TG: No one outside my family.
ARF: Would you like to?
TG: Sure, if I read or heard about someone else I would certainly talk with them.
ARF: The Noonan family in Massachusetts, some of whom have eFAD, started the Memory Ride, a bicycle fundraiser now run by the Alzheimer's Association. It's for all AD, but some families show up who have an early onset form. That's one way of networking.
TG: That's interesting. I would be willing to talk to support groups, or to people my age who consider genetic testing or participating in a clinical study of eFAD.
ARF: Really? People could contact us and we could put them in touch with you privately.
ARF: We all forget things. I spent a scary and lonely 20 minutes in a parking garage late at night recently looking for my car, for example. Do you worry every time you forget something that "that's it"?
TG: Yeah, there is a part of me that does. I am prejudiced toward that fear because I have the gene. But knowing the results of my studies is so far telling me that it's extremely unlikely that any forgetfulness I have would be related to AD at this point, so that reassures me somewhat. Things like stress make people forgetful, too, and I am pretty busy. Really, education helps you be objective about these things.
ARF: You sound upbeat and constructive. Is it ever hard to live with this genetic sword hanging over you?
TG: Yes. Especially when I think about my children.
ARF: How old?
TG: Nine and six. Obviously I don't want them to see me go through it. And I really don't want them to go through it themselves! They continue to motivate me: if it's not for me, I am doing it for my kids. You just can't sit back and slowly die, you know. I am too young for that.
ARF: Have you prepared financially? Long-term care, for example?
TG: No. I have life insurance. I do not want the long-term care approach, quite honestly. Having watched the process up front and close and dealing with those memories, I don't want my children to have those memories of me. Those memories hurt. I want the kids to always remember me as the healthy dad. You can suppress those memories somewhat, but they are still there and they are a difficult experience to carry into life. If someone chooses to go that way, they absolutely should have the freedom and support to do that, and maybe they find a grace and peace in it. But for me personally, having lost my father, mother, and grandfather in different ways, I don't want to impose this disease on my kids' adolescence or young adulthood. In my mind, thank god for Dr. Kevorkian, to be perfectly honest with you. I believe that you have lived and experienced your life and you should be able to do what you want with it.
ARF: Actually, Dr. Kevorkian's first case was a 54-year-old woman with AD.
TG: That makes sense to me.
ARF: But plan A is not to let it come to that?
TG: Right. I don't think about dying these days. I am really focused on the studies and on contributing to a better future for people with this disease. Once my doctors tell me that their data on me takes a turn for the worse, then I'll think about it, but not now.
ARF: We thank you for this interview.
NEXT: Interview: A Spouse's Perspective on Clinical Trials for eFAD