Community Stories: Genetic Testing
Kristina, can you share your story with us?
I’m 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 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 her children know that there was a study that focused on early-onset familial Alzheimer’s disease and that they could also be tested for the mutation, i.e. get genetic testing done, and that they should be tested. The neurologist let us know it was a 50% chance of having the mutation and different reasons why we should get tested. So 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, which ones wanted to get tested. So I decided that I definitely wanted to know, because I have a son. And I wanted to prepare my family in case it was positive or negative, and also to prepare if one of my brothers was positive who would take care of the brothers and 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.
How did you know you were ready to find out your genetic status? What was your thought process?
I guess watching my mom and seeing her cognition decline. But yet 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. And so I just didn’t want to leave my husband and my son not knowing what’s going to happen or without life insurance or I just didn’t think it was -- 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 [prenatal 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. So it was good that even though I was an adult and already had my son, it’s really good that we all know about this mutation for my cousins.
Looking back, is there anything that helped you prepare for your result?
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 my husband. We would still have our life together.
Is there any information or advice you found helpful when you were undergoing counseling and testing?
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 test results if you don’t do blind testing. Because for me, I didn’t mind it being under my name but I wanted to make sure I was covered. So getting that first is important and if you want long-term care insurance. As for other advice, I would say definitely have a support person. 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. So I think having that support system, whether it be friends or family, is very important when you’re getting tested.
And so was your support person your husband?
Yes. 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.
Did you have any trouble finding a genetic counselor that specialized in seeing patients with a history of a dominantly inherited disease or was that pretty easy for you to find?
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 what they do is connect you with their only genetic counselor which is telehealth through St. Louis, I believe. So it’s just a referral process and they pick the genetic counselor. Now for my family members, they went through a neurologist in their home state and they had an easy time finding a genetic counselor just going through a neurologist. And once one family member is tested and has results it’s 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 the VA and some have used civilian providers.
You mentioned that you told your friends that you were going through this. Did you tell any family members? Did you lean more on friends? If someone's interested in setting up a support system, what was helpful for you in setting that up?
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. So I got tested, and my aunt and uncle ended up getting tested because I was tested. So 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 actually got the ball rolling for other family members who wanted to get that information.
I can’t remember who started the Facebook group, but one cousin started it and then my aunt invited me to it and the only thing they talk about is Alzheimer’s. I’m not in the group too much but it’s good because if someone has a question about a study or testing or resources then they have other family members. And everybody’s there… distant cousins, uncles, aunts, you know, it’s just whoever.
There are people who want to tell their family and friends and people who are more private about it. Did you have a strategy as far as having some amount of boundaries to deal with your result on your own?
For me, I have no boundaries. [Laughs]. With my family, I was very much like, I want them to know. So I let them know that I was getting my test results at this time, at 1 o’clock, and that I’d call them after and let them know. And so 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.
And did you feel like it was helpful to have them there with you on that day?
Yes. I definitely thought it was helpful. 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 the 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.
What is it like to find out your status? What emotions did you feel? Are there any recommendations you would give to others to prepare for that moment of receiving the news?
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 these support systems 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. So 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 this mutation in 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?
There’s a lot of data on what happens to individuals immediately after testing and 3 months after finding out their result and then after 1 year. But then there’s little or no information.
My question to you is how did your relationship with finding out your status, and your emotions and your general thoughts and life, change over time?
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? So 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.
Now that you have this information, how has your perspective changed? What can people expect once they find out their status?
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.
What is the one piece of advice you would give someone who was about to find out their genetic status?
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.