Some of the most valuable insights a person can receive when facing familial Alzheimer's disease (FAD) come from stories within our community.
In this interview, we hear from Karen, a member of a family impacted by FAD. She talks about her father’s experience as an “escapee”, and her own experience testing negative for an FAD genetic mutation.
This conversation reflects Karen’s unique perspectives and experiences as shared with us on April 23, 2021. Her story is her own, and it adds a valuable chapter to the diverse narratives within our Youngtimers community.
This transcript has been edited for clarity and readability. For the full interview, listen to the recording.
LINDSAY: Karen, the story of your family’s journey with familial Alzheimer’s disease has been shared in the media, but would you mind sharing your story with us?
KAREN: Early onset Alzheimer’s for my family, for my parent, my brother and I, has always been something we knew [about]. Growing up, I knew that my paternal grandmother had died of Alzheimer’s. We knew that it “ran in the family.” I don’t think we necessarily knew growing up about [the] genetics and all of that, but it was always something that was in the back of our heads.
In our family, onset was typically around fifty. Many of our extended relatives have passed away before they were sixty, so we have that fifty-year-old mark as a timeline in our heads. So we watched Dad as he approached that age limit, and fifty came and went, so we all thought, “oh, well, alright, it skipped us then, so that’s fine.”
But then, a few years later, we found out about the DIAN study.
[Editor’s note: DIAN stands for Dominantly Inherited Alzheimer's Network. It’s an international research partnership of leading scientists who are studying familial Alzheimer’s disease. Learn more about participating in research.]
My Dad’s cousin had been involved in it, and said “Hey, you should see if you could help. They were studying people with the gene mutation and without, so maybe you could be of help.”
My dad joined it to be part of the observational study. As part of that, he got his genetic test, just to check off that box. He was sixty-two at the time, and to all of our surprise, we found out that he did indeed have [a] gene mutation [that causes familial Alzheimer’s disease].
So suddenly, my brother and I–after ten years of thinking, “Oh, this has just passed us by. It’s no problem.”–now because my dad had it, we both had a 50-50 chance of getting it. That was around 2010 or 2011, so it was something we had in our minds [and later came back to thinking], “Okay, what does this mean now?”
My brother and I then joined the same study, and it was early 2012 [when] I got my genetic status, which was negative, [meaning] I don’t have the gene mutation.
LINDSAY: Wow, I’m sure that was a lot to digest! I want to explore your feelings of testing negative, but first, let’s talk about the fact that your father is an “escapee.” That’s got to be exciting.
[Editor’s note: An "escapee" is someone who has the mutation, but hasn’t developed any symptoms of the disease after their anticipated age of symptom onset. Escapees are very important in our understanding of resilience and prevention genetics that may delay the disease. Learn more about escapees.]
KAREN: It is simultaneously exciting–we’re so obviously thankful that he hasn’t developed any symptoms yet, and he’s involved in a whole bunch of other studies, like you said, about protective genes, lifestyles, all that kind of stuff, to figure out if there is a reason he escaped.
But it also adds confusion for my brother and I, about how to feel about this. Like, if you’re positive, and you have the “dodgy gene” as our friends in England call it, what does that mean for us then?
Because typically you use your parents' age of onset to determine how your disease is going to progress. Our Dad has escaped it, so does that mean we then, too, would escape it? It’s all very interesting. We’re grateful, and we’re happy to be at least a part of studies to figure out what’s going on.
LINDSAY: It is really important that he’s contributing, and his existence brings a lot of people hope, even if they do test positive for the mutation.
I’d like to return back to when you told us your mutation status. Can you walk us through your thought process for deciding to get tested?
KAREN: First, let me say that I’m a librarian, so I’m all about information. For me, it was pretty clear either way, I needed to have that information in order to gather my thoughts, prepare myself, and figure out what I was going to do. That information was really important.
I will say, it’s not the right decision for everybody. For me, it turned out well, because now I have that weight lifted. But, you can never go back to not knowing.
“You can never go back to not knowing. ”
or a lot of people, even just having that hope there is pretty significant, so I think people need to do some deep introspection.
The clinic we did our genetic testing through had an amazing genetic counselor. I cannot stress enough how much I thought I was prepared, and knew I wanted to do this, knew I wanted to get my status. I sat with her for an hour, and she asked me questions I had not thought of. One of which was, “And what will you do if you’re negative?”
I immediately felt, “Well, won’t I be happy? Like, won’t that be great news?”
[My genetic counselor helped me with] preparing for that news, understanding that, sure, you’ll be happy, but there are a lot of things to think about. You still have family at risk. What does that mean for you participating in all these things?
For me, it was pretty [clear] that I deal better when I have information. I once took a personality test, and the very first sentence in it was “Karen is uncomfortable with uncertainty.” That is me. I don’t like not knowing. I want that information.
A really good genetic counselor, who will ask you questions you haven’t asked yourself, and really give yourself that time to go through that process and not rush it, for me, it was really important. I have some cousins who had an opposite experience with genetic counselors, so I just really urge people to:
Go through that process, and
If you’re still feeling a little uncomfortable after that, find another genetic counselor, really give that gift to yourself.
LINDSAY: Can you talk a little bit about the process? Are there things you wish you had known?
KAREN: Again, let me preface this by saying we had a really good experience. We had a really great group of people, and I’m so happy we had the people we had to help us through this process.
We reached out to the clinic, and I said, “Okay, I’m ready to get this [done]. Let’s schedule it.”
I had a meeting with a neurologist who specializes in Alzheimer’s and the genetic counselor. There might have also been a coordinator to help schedule things.
You sit down and you have a preliminary [chat], like, “Are you ready to get this information? Here’s some implications of knowing this or not.”
They talked about insurance – long term care insurance, in particular – and things that can be affected by knowing your status. We talked a lot about GINA, being protected from being discriminated against for a genetic status, and that kind of stuff.
[Editor’s Note: GINA stands for the Genetic Information Nondiscrimination Act, the 2008 US law which makes it illegal to discriminate against employees because of genetic information and prohibits health insurers from using a person's genetic information to determine eligibility or premiums. Learn more about the GINA act.]
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We had a pretty brief conversation, and I said “Yes, I want to move forward.” At that point, they scheduled the genetic counselor.
That was about a week later. So nothing happened rapid-fire, which I appreciate. It slows that down. There’s a lot of emotion wrapped up in it. Your adrenaline’s running. You’re like let’s just do this. I appreciated that they purposely stretched it out a little bit.
Then I met with a genetic counselor. We talked for a good hour. She then followed up with me by phone afterwards, just to make sure nothing else had come up. Then we scheduled the blood test, and I went in and did that. It was a couple of weeks in between doing the blood test and getting the results.
I got called into the office to sit down with the neurologist to get my results. Some of my cousins got a phone call, which is just scary, because it was nerve wracking enough to get the phone call to schedule the appointment to go in to get your results, let alone hear your results.
[Editor’s Note: Speak with your genetic counselor about how they intend to notify you of results to ensure you’re comfortable with the plan. You’re right to advocate for a notification method that suits you.]
Just remember, you may have made the decision to find out your genetic status, but there are still things that will catch you. For me, it was that phone call: “Okay, come in.”
Immediately my mind goes to, “Okay, he’s not telling me over the phone, and if I’m going in, does that mean that I have it?” All this stuff goes on in your head.
They sat down and delivered the results there at the table, and they were really good about giving us space to stir and digest it. For me, that was surprising. I thought, once I make the decision, this will be it until I get the result, and then I can deal with it. There were some things during the process that I was like, ”Oh, I’m kind of nervous about this.”
So, just recognize that there’s going to be a lot of ups and downs in that process.
LINDSAY: When they opened that envelope and they said you’re negative for the mutation, what was that like?
KAREN: I was there with a really close friend of mine and my mother. My mom immediately started crying, tears of joy. It was emotional being there. Of course, you’re relieved.
I’m single. I don’t have any kids, so the thought of [if I was positive] –“Okay, so how am I gonna plan for caretakers and that kind of thing?” –all of that lifts. So there was a little while of feeling pretty happy. I got to call my dad and tell him I was negative, and he was overjoyed, obviously.
Then it pretty quickly got reined back in. My brother was still at risk; he didn’t know his genetic status. He has a daughter who could be potentially in line for this. I still had an extended family who was at risk. Cousins who were finding out their genetic status. And through this study, we’ve gotten to know more and more people who are affected by this, so then it becomes, well, okay, I have been freed from this, but now, other work begins.
I use the analogy of going from offense to defense. Rather than working to protect myself, it suddenly shifted to now, how can I help other people? How can I support my brother? How can I support my dad, and all of his continued research that’s happening?
It started with being really happy about it, and I have to say, that’s when that genetic counselor asked me “How will you feel if you’re negative?” really came into play. I was like, “Oh, I’m so glad we went through a thought exercise about this.” Otherwise, I would’ve been really taken aback by suddenly feeling guilty for not having it. A little bit of survivor’s guilt, I guess. There were a lot of emotions that came up out of it, so I was so glad I had talked to her about it.
“Okay, well if I don’t have to worry about this [mutation], how can I still contribute to this research?”
In the long term, obviously, I’m happy and I’m grateful that I don’t have this gene mutation, but it’s also now turned into, “Why have I been spared from this, when all of these people I love and know haven’t been?” so there’s a lot of that going on. And how do I contribute productively to this now?
I can’t be in the drug trials because I know my status and it’s negative, so that’s not gonna happen.
I’m continuing to work in the observational study, just so they can study me and my dad, they can study me compared to other family members, which I think is really powerful and important, so trying to figure out now, okay, well if I don’t have to worry about this, how can I still contribute to this research?
LINDSAY: Having gone through this process, what would you say to someone who is on the fence about genetic testing?
KAREN: The biggest thing I would say is this is not a decision someone else can make for you. You can hear a really inspiring story about someone who found out or didn’t find out, and that may be a great story, but it’s that person’s story. My only piece of advice would be to really listen to yourself, and talk to your family about it, and make a collective decision. Do what you feel is right for you. Do not let someone tell you that that decision is wrong.
There’s lots of reasons not to find out. My story would be very different if I found out I was positive. I may not be so optimistic or so glad I have this information. Maybe I would be saying, “I wish I didn’t have this information.”
That is just the biggest thing, just knowing that everyone’s story is different, and everyone has a different thing that’s right for them. So really believe in that and trust in that. Get as much information as you can. Listen to a bunch of different stories and really make that decision for yourself.
LINDSAY: You talked about survivor’s guilt. How does testing negative change family dynamics?
KAREN: I think it changes to some extent. Our family’s always been really open about talking about it, so it’s not like we don’t talk about it anymore.
As someone who’s negative, I try to make more space for people who either know their genetic status and it’s positive or don’t know yet. I try to not just be telling my story all the time, but making space for them to tell their story, and really understanding. If I ask my brother a question about it, and he’s not in the mood to talk about it, I give him space not to do that.
We have cousins who we’re close to, who are going through similar things, and it’s just one of those things to remember in the back of your head. They have a lot of emotions going on. They’re going to be experiencing something that you don’t have to experience now.
Understanding that there’s a lot of stuff happening on their end that you:
Don’t have any control over, and
All you can do is be there for them.
It changes the conversation. You’re free of this, but they’re very much in it.
As someone who’s negative, just making sure those family members know you’re there, and available if they want to have a dialogue with you. That’s the biggest thing you can do–make sure it’s not, “okay, bye, see ya. I don’t have to worry about this anymore.”
Also, not pushing them into conversations they’re not ready to have. Just being available for whatever level of conversation they want to have.
LINDSAY: Yes. Being there is just so powerful. Karen, thank you so much for joining us today.
KAREN: Thanks, Lindsay. Thank you for having me.