about genetic testing
My name’s Kristina. I live in Philadelphia with my three-year-old son and a husband. My mom is 56 years old and currently lives with early-onset (familial) Alzheimer’s. She has (a *mutation in) the PSEN1 gene and was recently diagnosed – but we think she started having cognitive difficulties around 48.
For a very long time, we didn’t understand what was happening with our family. People were getting Alzheimer’s very early on and we didn’t understand what it was. We first realized it with my grandfather’s brother. Then my grandfather passed away when he was young, so it was his siblings and his mother and a lot of cousins that ended up being affected by the disease.
Finally, one of our distant cousins went and got genetically tested through their neurologist, and it turned out they had (a mutation in) the PSEN1 gene. They let their children know that there was the DIAN study (a trial focused on studying early onset familial Alzheimer’s disease) and that they could also be tested (i.e., get genetic testing done for the mutation). The investigators in this study also let us know that there was a 50% chance of having the (mutation) and different reasons for getting tested. Once we found out about that one family member having the (mutation), we decided to have my mom tested to see if she had the same (mutation). And she did. Then it was up to her kids, at least the ones over 18, to deicide if they wanted to get tested. I decided that I wanted to know because I have a son. And I wanted to prepare my family in case it was positive or negative, and to prepare if one of my brothers tested positive (i.e., who would take care of the brothers and siblings).
*The person sharing their story refers to their family having the "gene" that causes EOFAD. This is commonly said in the EOFAD community, but we corrected the word "gene" to "mutation" in this text; as it is a mutation in a gene that leads to EOFAD.
Tell us your story
I guess watching my mom and seeing her cognition decline - watching my grandma prepare -- because my grandma’s her caretaker -- prepare what was needed next in life like moving her in with my grandma and 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’s going to happen or without life insurance. I’m not saying it’s fair or unfair but for me, it didn’t feel fair to have them be shocked ten years or fifteen years from now when I could have known sooner. So, I guess I wasn’t, I mean I can’t say I was always ready to know, but I knew it was the right thing to do.
We didn’t find out until I already had my son, but if I were to have more children, I wanted to know in order to do [preimplantation genetic testing (PGT)] if I was positive (for the mutation). So that was another reason we wanted to know. And then also my aunts who have older children they wanted to know for the same reason, for their daughters to know and have that option.
How did you know you were ready to get tested?
I think my husband helped a lot. We decided that no matter what the results were going to be I’d have someone to take care of me. We’d have assets after my passing, and I had the view -- my mom still has quality of life. You still have 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 even -- whatever the results were I would still have my son and husband. We would still have our life together.
Life and long-term care insurance: Prior to testing -- I think the biggest advice I gave 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 your test results. I didn’t mind (getting testing) under my name, but I wanted to make sure I was covered. So, getting that first is important as well as long-term care insurance.
Support system: As for other advice, I would say definitely have a support person. Because it’s going to be, 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 6 weeks for my results to come back. And it was a lot of sleepless nights, but I had a lot of encouragement from my spouse that everything was going to be okay no matter what. I think having that support system, whether it be friends or family, is very important when you’re getting tested.
What helped you prepare for genetic testing?
My husband and my friends. Yeah, so I’m very lucky I have a friend who’s a researcher and she’s extremely supportive and knowledgeable about Alzheimer’s. But yeah, my friends are just a great support system. My husband’s a great support system. I couldn’t be happier with their support.
Sharing with family: I think it was great telling family because it ended up getting all the other family members interested in testing, whether they wanted to test or not. I got tested, and then my aunt and uncle ended up getting tested because I was tested. Once they saw how easy the process was and they decided it was something they wanted to know, they went ahead and went through the testing. And our family has a small little Facebook group where people talk about testing and genetic counseling and that sort of thing. It’s not super active because you’re not getting tested on a regular basis, but for people to know that there is a process to go through. I think telling family for me was a good thing because it got the ball rolling for other family members who wanted to get that information.
What type of support did you have during this time?
For me, I have no boundaries. With my family, I was very much like, I want them to know. I let them know that I (was) getting my test results at (a specific time) and that I’d call them after and let you know. Once 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. Because they were definitely in it with me no matter what and I thought it was something they needed to know. So yeah, I shared my results with everyone.
Because you have to have those conversations no matter what your results are, you’re going to have a lot of emotions and conversations. And having the conversations of who’s next to get testing, if anyone is going to get the testing. It’s kind of a lot of family planning, I think, with the (mutation) 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 the support. So, it’s good for everyone to know kind of what’s going on.
Did you have a strategy in setting boundaries to deal with your result on your own?
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’m a big planner. And so, if you’re a big planning person or you just want information or you want to, you know, for your family I think it’s very important to find out either way. You know, I cried, but I just was relieved to know. To finally have answers 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. And then finding all this supports afterwards with it. So that’s great that there were so many -- not so many… Now there are organizations out there that can help you navigate, younger onset Alzheimer’s and studies, and there’s hope. I think there’s always hope with it. I think that’s a good thing to remember. It’s not the end all be all.
It was so hard for so long where we didn’t know what was happening. It was like all these young people were getting Alzheimer’s -- at one point we didn’t know it was Alzheimer’s we just thought it was a type of dementia or something. And to now know it’s (a mutation) this gene and that this is what happens, this is how you find out if you’re going to get it. It’s just a lot more questions answered instead of wondering, what is going on with my family?
What is it like to find out your genetic status?
I think I’m at 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 feel like I had to go back to normal because you still have your family and your job and everything else. So, you know, for me -- I wasn’t working at the time so I couldn’t -- didn’t have to take a vacation. But I still had to wake up with my son and do everything, but now a year and a half later I’m more worried about what the status is of my brothers. So I think it’s more 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? It’s now more about getting that information out there for them to decide, so it’s just like an ongoing thing. But I feel like, yeah, life is back to normal and yet you appreciate every day. I think that’s probably the best way to put it.
I think it will feel more real to them. Sometimes it’s easier -- not easier, because it’s hard to see a parent or relative go through it. But I think your perspective changes because you have to… You just have to keep going. It’s like a fork in the road and you finally kind of met the fork and you have to decide which way you’re going to go from there. And I think that’s -- finally reaching that destination is what is the big change.
How did your emotions and perspective change over time after learning your results?
I think they have to realize that they are brave going up to this point. And that they’ll be able to handle whatever results they are given. And just make sure they have a very strong -- I mean it’s hard to say have a strong support system because that’s not something everyone has but know that there is hope out there for treatment. If you don’t have support, there’s support through studies, through Youngtimers, there’s other people out there just like you and you’re not alone.