Genetic testing’s emotional impact [PODCAST]

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“Finding out I was gene-positive had hit me harder than I could ever have imagined. How was I to know that my decision to get tested would have such an impact on my life? All of the rehearsing I had done in the weeks leading up to my results appointment proved useless. At the genetics clinic that day, the doctor told me most people feel better after about three months. As I sat on the hard plastic hospital chair, staring at the creased piece of paper containing my test results, I thought, That doesn’t seem so bad. Three months isn’t that long.

The problem was it had been longer than that and I still didn’t feel better, not even a little bit. I was starting to think something was wrong with me, that I was the cause of my own misery. Am I wallowing in my own self-pity? Do I like feeling this way? I didn’t understand why I couldn’t make myself better. I had never experienced a depression as deep or as long-lasting as this. I had recently begun to realize that anything I had felt previous to my HD diagnosis that I thought was depression was just sadness.

Every day, every moment, was a struggle. There was no more joy in my life. I hadn’t smiled in weeks. I had more unanswerable questions now than before I got tested. How am I supposed to live with this? I can’t stop it from happening, so how am I ever going to feel OK?”

Erin Paterson is a writer and the author of All Good Things: A Memoir About Genetic Testing, Infertility and One Woman’s Relentless Search for Happiness.

She shares her story and discusses her KevinMD article, “The emotional side of genetic testing.”

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Hosted by Kevin Pho, MD, The Podcast by KevinMD shares the stories of the many who intersect with our health care system but are rarely heard from.

Transcript

Kevin Pho: Hi, and welcome to the show, where we share the stories of the many who intersect with our health care system but are rarely heard from. My name is Kevin Pho, founder and editor of KevinMD. Today we welcome back to the show Erin Paterson. She is a writer, and she’s the author of the book All Good Things: A Memoir About Genetic Testing, Infertility and One Woman’s Relentless Search for Happiness. Erin, welcome back to the show.

Erin Paterson: Thank you so much for having me. I’m so happy to be here.

Kevin Pho: So we’ll get into your excerpt of the book in a little bit, but for those who didn’t get a chance to listen to our first episode together, can you briefly share your story and journey to where you are today?

Erin Paterson: Sure, sounds good. I am a writer and a Huntington’s disease advocate, and I’ll probably refer to Huntington’s disease as HD throughout the conversation, just so people know. But I didn’t find out that Huntington’s ran in my family until I was 31 years old. At the time, my husband and I had felt settled down. I had opened a flower shop, and it was thriving. My husband was doing well in his construction career, and we finally felt ready to start a family.

So we made the announcement to my parents over brunch one morning, thinking they would be ecstatic to think that they would be grandparents in the coming year. Unfortunately, our announcement wasn’t met with the fanfare we had expected. It was then that we found out that there were thoughts that my grandmother might have died of a genetic disease called Huntington’s disease. Now, she died in the early ’80s, when I was about 12 years old, so they hadn’t discovered the gene for Huntington’s disease yet, and there was no way of knowing for sure.

The problem was that if my grandmother had Huntington’s disease, she could have passed it on to my father, who could have passed it on to me, which meant that any children we conceived were at risk of inheriting the gene from me. So that sort of threw a wrench in our plans to have children. What ended up happening was I got tested and found out I was gene-positive for Huntington’s disease within a short 8 months. As you can imagine, making a monumental decision like that in such a short period of time probably wasn’t ideal.

So we then had to decide what we were going to do about having children. I really wrestled with the question, “Is it even morally correct to have children when I knew that I could pass on this disease?” What we decided at the time is that my life had value as a person who is gene-positive for HD, and so with the life of our children, if we happened to pass the disease on to them. With Huntington’s disease, there is a 50/50 chance that each child you have will get the disease, or might get the disease.

Unfortunately for us, after a year of trying to conceive naturally, we hadn’t had any luck, and we found ourselves at a fertility doctor. We went through two and a half years of fertility treatments, ending up with trying IVF, or in vitro fertilization, with pregenetic diagnosis on the embryos to make sure that they didn’t use any that had the Huntington’s gene. We did the process twice, and it didn’t work either time. By that point in time, we’d been trying to conceive for three and a half years, and we were emotionally exhausted.

We took a year off, getting second opinions from different doctors. We’re lucky to live in a big city with a plethora of fertility doctors around, but I knew I couldn’t set foot in another fertility doctor again, because we were just spent from going through all of that. Eventually, we ended up creating our family through adoption. So that is what led me to being a writer and Huntington’s disease advocate. I have written a book about the experience of going through genetic testing and our journey, our long and complicated journey, to parenthood.

Kevin Pho: So let’s talk more about that book and excerpt. As I mentioned before, that book is titled All Good Things: A Memoir About Genetic Testing, Infertility and One Woman’s Relentless Search for Happiness. You graciously contributed an excerpt from that book on KevinMD, and that’s titled “The emotional side of genetic testing.” Now, for those who didn’t get a chance to read your excerpt on KevinMD, can you just briefly summarize it and share why you decided to share that particular one?

Erin Paterson: Yeah, I shared that chapter of the book. It’s a chapter about the months right after I went through genetic testing, and it talks about how much of a deep depression I was in. I felt it was really important to share those experiences so that people are aware that that’s how people can feel after going through genetic testing. In my case, with Huntington’s disease, I have the gene, but I’m not symptomatic yet. I don’t know when I’m going to get the disease. And that left me feeling very confused, because I didn’t understand why I was so upset when I didn’t even have the disease yet.

At the time, I could barely function. I could hardly get out of bed. I would sleep for 10 to 12 hours every night. I would roll out of bed and make my way into work, but once at work, I could hardly function. I was lucky I had a supportive business partner at the time who picked up the slack. But when I was at work, I was afraid to talk to people. I was afraid to answer the phone, because I thought that at any moment, if I answered the phone, there was going to be some other kind of horrible news coming down the line for me. Or if there was a testy customer, and in retail a lot of times people are upset, I knew that I would just break down crying, and I couldn’t handle speaking to anybody.

So I spent a lot of time in the back room, rubbing my red eyes and trying to get up the guts to face life. I treated myself to coffee four or five times a day, because just going for a coffee break was really the only thing that could get me through the next 10 minutes. And I was afraid of being alone. I couldn’t be in my house by myself, because anytime I was alone, I would just start ruminating about the results appointment and start thinking to myself, “Oh my God, I’m going to get HD. I’m going to get HD. I’m going to get HD.” That information was just so overwhelming. I didn’t know how to handle it. And when I would sleep, I would have dreams about it; I would be dreaming about my results appointment at the genetic counselor’s office. So it was a very, very hard time for me.

It’s similar to when you lose somebody and somebody passes away. Everybody’s there for you right in the moments after that happens, but a lot of times they don’t realize that you’re still struggling months later. And that’s what I experienced. So I just felt it was really important to show people that side of going through genetic testing, and to let people who are feeling similar things know that they are not alone, that other people are feeling the same way that they are. Because a lot of times, just knowing you’re not alone is what helps you get through the next day.

Kevin Pho: What were some of the things that you did to get you through this difficult time?

Erin Paterson: I really grasped onto every little thing I could. Like I said, going for coffee. I was a big runner at the time, so I’d run five or six days a week, which was probably bordering on being unhealthy, to run that often. I constantly kept myself busy, going out with girlfriends. I had a handful of people who knew what I was going through, and before I went in for my genetic test results, they said, “What can we do if you get bad news?” And I said to them, “Just make sure I come out. Make sure I don’t stay at home all the time.” So they would call me up and say, “Come on, Erin, we’re going to go to a movie,” or “Come on, let’s go for another run,” or “Let’s just go for a walk at the mall,” or for a coffee. So I really relied on those people to pull me out of my depression and get me back out.

And deep down, I had this feeling that I didn’t want this diagnosis to ruin my life, and I knew that I wanted to be happy. So I just kept grasping on to that feeling and thinking, “OK, I’m going to find happiness. I’m going to find happiness. I don’t know how I’m going to do it, but somehow I’ll find my way there.” And I would just make little tiny steps every day in that direction. And it took a long time.

Reading was also a big thing, and that’s part of the reason I wrote a book, because reading for me brought me so much comfort. I would read lots of memoirs and learn about other people’s experiences. And even if it was just one thing in an entire book that I could say, “Hey, I felt that way, too,” that was very helpful. And for sure, Michael J. Fox was a huge inspiration in that matter, as well.

Kevin Pho: How long did it take you before you came to terms with the results of your genetic test?

Erin Paterson: To be honest, it’s not a nice answer, because I would say it really took me a good 10 years. And that sounds so depressing for other people to hear, because it doesn’t sound very hopeful. Nobody wants to struggle for something for 10 years. But the problem I faced was that I was going through infertility as well. With each round of infertility treatments, I had to ask myself, “Am I sure I’m OK with the thought of passing on the gene to my child?”

So every time I did a new cycle, which is every month, it brought up the idea of Huntington’s disease again, and I wasn’t able to sort of put it in the background and not think about it. I was constantly thinking about it and constantly asking myself, “Am I sure I’m doing the right thing? Am I going to regret this later? Is my child going to hate me if they inherit the gene from me?” So I felt that going through infertility kind of delayed my healing, because it didn’t allow me to just set it aside and focus on other things.

Kevin Pho: We’re talking to Erin Paterson. She’s a writer, and she’s the author of the book All the Good Things: A Memoir About Genetic Testing, Infertility and One Woman’s Relentless Search for Happiness. Erin, did you have any connection with the medical system to help you through the emotional trials of the genetic test results that you received?

Erin Paterson: I found that once I got my test result, it was kind of hands-off. There was a support group that I got involved in at the time that was run through the clinic where I did get my genetic testing, but that was very short. I think it was 8 to 10 weeks, and it was just once a month, or once a week, for 8 to 10 weeks. So nothing was really offered to me. I really had to search it out myself.

What ended up happening was I ended up seeing a therapist, an infertility therapist, and speaking to her about things related to infertility, and of course Huntington’s disease came up in the course of that. So I would see her once every two weeks, and she also ran an infertility support group once a month, so I’d go to that. So it was really the infertility community that also helped me through some of the stuff regarding my genetic test results. But I really felt that there wasn’t a lot of support, and that’s kind of an area that’s lacking.

Kevin Pho: Now, for those who have undergone or are going through similar situations to what you went through, what kind of advice do you have for them?

Erin Paterson: I guess the advice I would have would be to reach out and speak to somebody. Have somebody who’s going to be your support person going through that. When I went through genetic testing, nobody in my family knew that I was going through it. I just had my husband and a couple of my running friends to lean on. So find those support people who are going to understand what you’re going through, who you could say, “This is what I’m going to need from you,” and who you can count on to give you those things.

And it’s also important that they understand that when you’re going through something, they just need to listen to what you’re going through, and they don’t need to fix it. They just need to be there for you. Because I found a lot of the pain of genetic testing and getting the test results was that when I tried to open up to people, they really didn’t understand, and they would say things that they thought would be helpful because they were trying to make me feel better, but in the end, it ended up making me feel worse.

A lot of people would say things like, “Oh, they’ll probably find a cure before you get it,” or “Just think positively, and then you won’t get it.” I even had somebody say to me once, “You could get hit by a bus tomorrow and die. What are you so worried about?” So all of those things really weren’t helpful, and in the moment, it really made me angry. It’s only with hindsight that I realized that they were just trying to help. So you have to just find somebody who’s going to say, “Yep, I totally get that you’re feeling crappy today, and I’m so sorry.”

Kevin Pho: And my final question: What’s your take-home message that you want to leave with the KevinMD audience?

Erin Paterson: My take-home message would be that whatever you’re going through and however you’re feeling isn’t wrong. And just because people don’t understand it doesn’t mean you don’t have a right to feel that way. And that it’s hard, and I know that it’s hard to see, but it will get better in time.

Kevin Pho: Erin, thank you so much for coming back on the show and sharing your story, time, and insight.

Erin Paterson: Thank you so much for having me.

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