Some of the most valuable insights a person can receive when facing familial Alzheimer's disease (FAD) come from the stories within our community.
In this interview, we hear from Kristina, a member of the Youngtimers community living in Philadelphia whose son and husband were her inspiration to know whether she carried the genetic mutation that has plagued her family.
In this interview, Lindsay, founder of Youngtimers, talks with Kristina about:
Kristina’s decision to learn her genetic status
Finding a genetic counselor
What it was like for Kristina to talk to family about her results
This conversation reflects Kristina’s unique perspectives and experiences as shared with us on October 1, 2020. 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, watch the video.
LINDSAY: Kristina, thank you so much for joining us. We're so excited to hear from you. Can you tell us a little about yourself?
KRISTINA: My name is Kristina. I live in Philadelphia with my three-year-old son and husband. My mom is 56 years old and currently lives with early-onset Alzheimer's. She has the PSEN1 gene and was recently diagnosed, but we think she started having cognitive difficulties around 48.
LINDSAY: I'm so sorry to hear about your mom, and that she carries a mutation in the PSEN1 gene. What led you to genetic testing? Did you know there was a family history of Alzheimer’s?
KRISTINA: What happened with my family is that for a very long time, people were getting Alzheimer's very early on, and we didn't understand what it was. My grandfather passed away when he was young. So it was his side of the family: his siblings, his mother, and then a lot of cousins.
Finally, one of our distant cousins went and got tested through their neurologist, and it turned out they had this gene. They let her children know that there was the DIAN study, and that they could also be tested for the mutation.
[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.]
And they let us know it's a 50 percent chance of having the gene, and different reasons why we should get tested. So once we found out about that one family member having the gene, they decided to have my mom test to see if she had the same gene.
[Editor’s note: Members of the Youngtimers community often refer to “the gene.” Throughout this interview, when Kristina refers to “the gene”, she is meaning “a genetic mutation that causes familial Alzheimer’s disease.”]
And she did. And then it was up to her kids, at least the ones that are over 18, which ones want to get tested. So, I decided that I definitely wanted to know, because I have a son. And I wanted to prepare my family, depending if it was positive or negative. And to prepare if one of my brothers were positive, who would take care of siblings. It was just a good idea to get tested.
Fortunately, I was able to get tested through the VA system, the Veterans and Health Administration.
LINDSAY: For those who aren’t sure whether they're ready to find out their genetic status, can you walk through your thought process in getting ready to know whether you carry your family’s mutation?
KRISTINA: Watching my mom, seeing her cognitive decline. And watching my grandma–my grandma's her caretaker–watching my grandma prepare what was needed next in life, like moving my mother in with her, then planning for her funeral services. All of this was very realistic, like, it's coming soon. I just didn't want to leave my husband and my son not knowing what was going to happen, or without life insurance.
For me, it didn't feel fair to have them be shocked 10 years or 15 years from now, when I could have known sooner. So I can't say I was always ready to know, but I knew that it was the right thing to do.
LINDSAY: Looking back, is there anything that helped you prepare for your results?
KRISTINA: My husband helped a lot. We decided no matter what the results were going to be, I'd have somebody take care of me, and he'd have assets after my passing.
“Alzheimer’s isn’t going to be the end of our world. ”
My view was, my mom still has quality of life. You still have a quality of life for a certain amount of time with Alzheimer's. Alzheimer's isn't going to be the end of our world.
And so I just knew that, no matter what the results were, I would still have my son and my husband. We'd still have our life together.
LINDSAY: That's such a beautiful way to put it.
You talked about how you wanted to know because you have a son, and you wanted to plan. What did you mean by that?
KRISTINA: Yes, we didn't find out until I was an adult, until I already had Langston, but if I were to have more children, I wanted to know if I’m gene positive, in order to do the whole IVF with PGT thing.
[Editor's Note: IVG with PGT stands for in vitro fertilization (IVF) with preimplantation genetic testing (PGT). PGT is a screening test that can be performed on embryos created via IVF.
That's another reason we wanted to know, but we had also decided we were going to adopt after having [our son] Langston. So it wasn't a huge thing, but yet at the same time, it was something that we should know. My aunts who have older children, they wanted to know for the same reason. Just for their daughters to know, and have that option.
So even though I was an adult and already had Langston, it's really good that we all know about this gene for my cousins.
LINDSAY: Looking back now, is there anything you’re glad you did before you actually saw a genetic counselor, that you would recommend to others?
KRISTINA: Prior to testing, I think the biggest thing that– I gave this advice to my uncle and aunt beforehand – is to apply for life insurance. It's something you should have anyway, but you don't want to get denied based on test results.
For me, I didn't mind my genetic testing being done under my name, but I wanted to make sure that I was covered.
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If you want long term care insurance–I don't have it–but if that's something you also want to go about, then I would say that's one for financial advice. As for other advice, I would also say, definitely have a support person. Because it's going to be very stressful. For me, it was very stressful waiting for the results, and the results don't just come back the next day. I think it took six weeks for my results to come back. And it was a lot of sleepless nights, but it was a lot of encouragement from my spouse that everything was going to be okay, no matter what.
So, I think having that support system whether it be friends or family is very important when you're getting tested.
LINDSAY: Who was your support person?
KRISTINA: My husband and my friends. I'm very lucky. I also have a friend that's a researcher and she's extremely supportive and knowledgeable about Alzheimer's.
But yeah, I mean, my friends are all very, just a great support system.
My husband's a great support system. I couldn't be happier with their support.
LINDSAY: How did you go about finding a genetic counselor?
KRISTINA: For me, it was easy to go through the Veterans Health Administration. You just go to your primary care doctor, and you tell them, and they connect you with their only genetic counselor, which is telehealth through St Louis. And so it's just a referral process and they pick the genetic counselor.
[Editor’s note: If you plan to secure long term insurance, take caution when discussing your family’s history of Alzheimer's, your FAD mutation, or your Alzheimer’s symptoms with your primary care physician or anyone that has medical records. These records could be requested by the long-term care insurance company, and may make it difficult for you to qualify for long care insurance. Learn more about long-term care insurance.]
My family members went through a neurologist in Michigan, and they had an easy time finding a genetic counselor just going through a neurologist.
Once one family member is tested and has results, it's just like holding onto those results in order to give it to the genetic counselor and going from there.
So it's been a pretty easy process for my family who's been using the VA system. Some have used VA and some have used civilian providers.
LINDSAY: Some people decide to not tell many people about their genetic testing, and others are very vocal about it. It can be hard to talk to family about it because it's not just you. You're talking about siblings and cousins and it can feel like a weight to them as well.
How did you navigate that? Did you tell friends and family that you were going through this process?
KRISTINA: I did talk to my family, and I think it was great telling them because I ended up getting all the other family members interested in testing, whether they wanted to test or not.
Once I got tested, my aunt and uncle ended up getting tested, because they saw how easy the process was, and it was something they decided they wanted to know, so they went ahead and went through with the testing.
Our family has a little small Facebook group where people talk about testing and genetic counseling and that kind of thing. Not super active, because you're not getting tested on a regular basis, but it’s for people to know the process to go through.
So yeah, I think telling family for me, that was a good thing, because it actually got the ball rolling for other family members who want to know the information.
I can't remember who started [the Facebook group], but one, one cousin started it, and my aunt invited me to it, and the only thing they talk about is Alzheimer's
So, I'm not in the group too much, but it's good because if somebody has a question about a study, or testing, or resources, they have other family members to talk to, and they're very friendly. There's distant cousins, there's uncles, aunts, it's just whoever.
LINDSAY: Some people want to tell their family and friends, and others are more private about their genetic results. Did you have a strategy for setting up boundaries so that you were receiving the news in the way that you wanted to receive it?
KRISTINA: For me, I have no boundaries. (Laughs) No, I'm just kidding. Like with my family, I'm just very much of... I want them to know. So I let them know–yeah, I'm getting my test results at this time at one o'clock. I'll call you after I get the phone call and let you know.
And so after I got my results, I called my aunt. I called my grandma. I called my friends. I just let them all know the results because I felt like they were in it with me. Like, they definitely are in it with me no matter what, and I thought it was just something that they needed to know.
And so, yeah, I shared my results with everyone.
LINDSAY: Did you think that it was helpful to have them in it with you versus keeping this information to yourself?
KRISTINA: Yes, I definitely thought it was helpful, because no matter what your results are,
you're going to have a lot of emotions, and have conversations of who's next to get the testing, and if anyone is going to get the testing next.
It's a lot of family planning. I think with the gene being so prevalent in the family, it is a family. It affects the whole. So if one person is negative and one person is positive, then it might be likely that that person needs the other person for support. So it's good for everyone to know what's going on.
LINDSAY: What is it like to be on the other side of finding out your genetic status?
KRISTINA: I'm so glad that I found out. It's overwhelming. I think it was overwhelming not knowing. I'm the type of person that can't go on without knowing what's going to happen.
I am a big planner. And so if you're a big planning person, or you just want information, or you wanna know for your family, I think it's very important to find out either way.
You know, I cried, but I was just relieved to know. Like, finally I have an answer to what's been going on, and what goes on with my mom, and what goes on with our family. We have a name for it.
“ There are organizations out there that can help you navigate younger onset Alzheimer’s. There are studies. And there’s hope! ”
And then, finding all these supports afterwards with it. So that's even great. There are organizations out there that can help you navigate younger onset Alzheimer's. There are studies.
And there's hope! I think there's always hope with it. I think that's a good thing to remember is, it's not the end-all, be-all.
It was so hard for so long where we didn't know what was happening. All these young people were just getting Alzheimer's. At one point we didn't even know it was Alzheimer's. We just thought it was some type of dementia or something.
And to now know, it's this gene, and that this is what happened. This is how you can find out if you're gonna get it. It's just like a lot more questions answered instead of wondering, what is going on with my family?
LINDSAY: There's a lot of data on what happens to individuals immediately after testing and three months to 1 year after finding out their genetic result. But there’s no information on what it’s like after that. How have your feelings changed over time?
KRISTINA: I think I'm about a year and a half almost from knowing, maybe a little bit less than that from my status. At first, it was just a lot of emotion, a lot of adrenaline, finding out. But I had to go back to normal, because you still have your family and your job, and everything else.
I wasn't working at the time, but I still had to wake up with my son and do everything.
Now a year and a half later, it's more of I'm worried about what the status is of my brothers. So, I think it's more of like, okay, my status is out of the way,
I learned whether or not I have it, but now, what about my three brothers, or what about my cousins, or what about this person, so it's more now, it's about getting that information out there for them to decide, so it's just like an ongoing thing.
So, yeah, I think life is back to normal, but yet you appreciate every day. I think that's probably the best way I can put it.
LINDSAY: Let's say somebody has decided to get tested, and they're waiting for their results. Is there any advice that you'd like to give them at this moment?
KRISTINA: I think the thing is, they have to realize that they are brave going up to this point. And that they'll be able to handle whatever results they're given. And just know that there is hope out there for treatment. I mean, if you don't have support through studies, there's support through Youngtimers. There's other people out there just like you and you're not alone.