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“When I was diagnosed as gene-positive for HD, just over ten years ago, there wasn’t anything promising on the horizon in terms of a cure. It has only been since new clinical trials were announced in the past few years that I have allowed myself to feel a tiny bit of hope, that maybe there will be a treatment on time for me. How is it possible to be hopeful for a cure while still remaining realistic and preparing for my future with the disease?
Even though I do not have any disease symptoms yet, genetic testing has completely changed my life. Living with the knowledge that my future includes HD is a huge challenge. It has only been with time that I have learned how to balance many opposing views.
With the plethora of genetic testing available these days (even the mail-in kits), it is so important for people to consider the impacts such tests might have on their lives. Quite often, there are unforeseen consequences that one can struggle to come to terms with for years to come.”
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, “A patient’s perspective on 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 on the show, we have Erin Paterson. She is a writer, and she wrote the KevinMD article “A patient’s perspective on genetic testing.” Erin, welcome to the show.
Erin Paterson: Thank you so much for having me.
Kevin Pho: So we’ll get into the article in a little bit, but first off, can you share your story and journey to where you are today?
Erin Paterson: Well, when I was 31 years old, my husband and I decided it was time to have a baby, so we excitedly shared the news with my parents one morning over brunch. But unfortunately, the announcement wasn’t met with the fanfare we had expected. It wasn’t until then that we found out that a genetic disease might run in our family. It was suspected that my grandmother might have had Huntington’s disease when she died, but when she died, they hadn’t discovered the gene for Huntington’s disease yet, so there was no way of knowing for sure. But what that meant was there was a small possibility that our child was at risk for inheriting the disease.
Within a short eight months, without my parents’ knowledge, I made the decision to get tested and found out that I was gene-positive for Huntington’s disease as well. That means that I will get the disease one day; I just don’t know when the symptoms will start. That also meant there was a 50 percent chance of passing on the disease to my child. So what I told myself at the time was, “My life has value with HD, and so will the life of my child.” So my husband and I decided to conceive naturally anyway.
One year later, we still weren’t pregnant, so we ended up seeking the help of a fertility doctor at a fertility clinic. We started off with treatments that were as minimally invasive as possible, but eventually we ended up doing in vitro fertilization with pre-implantation genetic testing. Doing pre-implantation genetic testing meant we could use only the embryos that did not have HD. On our first round of IVF with PGD, all of our embryos had HD. So we decided to try again, and on our second round, we got two embryos that were HD-free, and we used both of them, but none of them resulted in a pregnancy. After two and a half years at the clinic, we decided we’d had enough. We gave up on fertility treatments, and we looked into trying to adopt, which in itself is a very invasive process. Fortunately for us, we were chosen to be the parents of a newborn baby girl through private adoption in our province. In all, it took us five and a half years to have our child.
All through that process, I was afraid of people finding out my gene status. I was worried that if they found out, people wouldn’t want to be my friend. I owned a business at the time and thought customers would stop shopping at my store. I thought my husband would leave me. And the most terrifying thought was the thought that I would get turned down for an adoption because of my gene status. I really had trouble seeing myself as anything more than my disease. I kept my gene status a secret for a very long time, but keeping it one began to make it feel shameful, and I didn’t feel like I was fully living life. Finally, I got sick of hiding it, so that’s when I started writing about it.
In the past three years, I have become an HD and infertility advocate. I regularly guest blog for sites like KevinMD, The Mighty, and HuntingtonsDiseaseNews.com, and I’ve written a book, which is coming out in the fall, about my path to parenthood. I am also currently in the process of setting up a publishing company focused on publishing medical anthologies aimed at empowering patient communities.
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Kevin Pho: For those of my listeners who aren’t familiar with Huntington’s disease, can you give a brief overview of what that is and how it is passed genetically?
Erin Paterson: So Huntington’s disease is a neurological condition that slowly kills nerve cells in the brain, causing cognitive impairment, uncontrolled movements, and emotional issues. It’s an autosomal dominant disease, so you only have to inherit one copy of the gene from one parent in order to develop the disease. When they’re looking at the gene that causes HD, they’re looking at the number of repeats of the gene. So there’s an area of repeats that’s normal, then there’s a little bit of a gray area where you may or may not develop the disease, but then there’s a certain number, which I believe is 40. If you have over 40 repeats, then it’s expected that you will develop the disease in your lifetime.
Kevin Pho: So let’s transition now to the article that you wrote on KevinMD. It’s titled “A patient’s perspective on genetic testing.” Now, for those who didn’t get a chance to read that article, can you just walk my audience through it and share the story of why you decided to write it?
Erin Paterson: Yeah, I wrote the story on KevinMD because I wanted people to be aware of what it could feel like to live with the knowledge of what your future holds. Scientific advantages have given us the ability to predict diseases, but in many cases, such as my own, there is nothing we can do to stop them. So how is one supposed to live their life with knowledge of what their future holds? For me, getting a genetic diagnosis was a life-altering event, and it took me a long time to come to terms with the fact that I’m going to get HD one day. I still struggle with it sometimes.
My article highlights some of those struggles and how I have to hold on to so many conflicting views. For example, how do you live a peaceful life when you’re afraid of your future? So I try to look at my future as something to contend with, and I have to trust that people will be there for me in my time of need. But then other days, the shaking hand of a lady at the grocery store will set me off and bump me back into a depression. Another example is: How do I have a relationship with my father? He currently has Huntington’s disease. He’s 77 years old, and he’s doing really well, but at the same time, when I see it’s hard for him to perform simple tasks, it makes me think of my own future, and it makes interacting with him difficult. And finally, how can we have hope for a cure while still remaining realistic about the impacts the disease will have on me and my family, and plan accordingly?
Kevin Pho: So tell me some of the things that you did to reconcile some of these difficult feelings.
Erin Paterson: I read a lot of books. I would read any book having to do with the brain, not specifically about Huntington’s disease, because just reading about the brain was a big step for me in coming to acceptance. I looked to Michael J. Fox a lot for inspiration, because he’s living an optimistic life with Parkinson’s disease, and I read all of his books. And I went through tons and tons of therapy. Anytime a fear came up, I would stop and think, “Why am I afraid of that? And what can I do to fix that fear? And is that fear really true, or is it just what I’m thinking is going to happen?” I would really sit down and analyze all of those thoughts and try and come up with alternative viewpoints for them.
Kevin Pho: Tell me some of the misconceptions that are out there surrounding Huntington’s disease.
Erin Paterson: I think the one thing that people don’t think about is how Huntington’s disease has a generational effect in families. My dad currently has Huntington’s disease, his mother had Huntington’s disease, and I’m going to get Huntington’s disease. So even people in my family who don’t test gene-positive are still dealing with it in their family, because there are multiple people in their family who are suffering from it. One of the hardest parts for me about having HD in my family is the fact that I know I’m going to get it, and I have to watch other people in my family suffer with it, or live with it and have challenges with it. That can be extremely emotional and very mentally tough to deal with, especially when you’re being a caregiver for that family member and trying to help them through their journey. It can be very emotionally fraught.
Kevin Pho: Now, over the years, I’m sure you have had many interactions with the health care system. You briefly told your infertility story, and I’m sure you’ve had interactions with your primary care physician as well. Tell me about those interactions with the health care system as it relates to Huntington’s disease.
Erin Paterson: For Huntington’s disease, for now, I just see a specialist neurologist once a year, because I don’t have it yet. But I also go in with my dad for all of his appointments, and they’re pretty positive appointments. It’s a clinic that specializes in movement disorders and Huntington’s disease, so we haven’t had any issues accessing the care that we need.
Kevin Pho: And in terms of counseling, what kind of support have you had from the medical system?
Erin Paterson: I don’t feel like there has been much support from the medical system in terms of that. After I found out my gene status, I asked, “What am I supposed to do now?” in the appointment, and they said, “Well, you just go on living your life.” And I said, “Well, how am I supposed to do that, knowing that this is going to happen to me? How is that possible?” I was told I would feel better in about three months. And then when three months came along and I didn’t feel better, I began to think, “Well, there must be something wrong with me if I don’t feel better.” So I had to seek out counseling myself, and I went to see several different therapists over the years to help me deal with the emotions associated with HD, being gene-positive for Huntington’s.
Kevin Pho: In an ideal world, what kind of support would you like to have from the medical system?
Erin Paterson: I think that there need to be programs set up. I mean, there is some group counseling, but it’s very limited. So I think there need to be programs set up that are easy for people to access, that we don’t have to go searching for. For instance, people need emotional support deciding how to have a family. I felt like I was totally alone in that, just me and my husband out here. I didn’t know anybody else who had tested positive for HD. I was new to the community. I didn’t have anybody to reach out to. And how are we supposed to make this big, huge, life-altering decision of whether or not to risk our child having the same disease? Was it even morally correct for us to have children? So just that in itself was something that we really needed support on.
And then at the same time, my dad was getting diagnosed with HD around the same time as me, and how do we support him? As he’s getting sick, what are we supposed to do to support him? So it would be nice if there were more supports available around that. There is a Huntington Society of Canada that does offer some support, but it’s just one organization, so it is a little bit limited.
Kevin Pho: So tell me about that journey of getting more information about Huntington’s and where to get that support. Where did you go to do that research, and what kind of information did you eventually find that perhaps you could pass on to the other listeners of this podcast who may be in similar situations?
Erin Paterson: I would say that now it’s a lot different since I was diagnosed. I mean, there’s so much stuff on the internet available now that you can look up, and so many different websites where you can find information, and even online support groups. I eventually just started talking to people slowly about things, finding little connections, and learning about people here and there who had HD. I went to some of the large conferences from the Huntington Society of Canada, met people there, and tentatively reached out to find out information, because at the same time, a part of me didn’t want to know all of the details as well, right? Sometimes you don’t want to know every single thing that’s going to happen to you before it does. Mainly, I found support through private counseling, and the person who gave me that private counseling ended up being an infertility counselor, who I went to for infertility issues, and then I ended up speaking to her about HD as well.
Kevin Pho: Now, when you’re telling your story, there was a point where you wanted to be open about Huntington’s. At first, you mentioned there was a little bit of a stigma, and now you’re writing a book, and you speak about it. What made you change to being more open about Huntington’s?
Erin Paterson: I really felt like I wasn’t living life. I felt like I was hiding a part of me. Whenever I’d meet new people and they’d ask me about what I do or what’s important to me in life, I just felt like I couldn’t be fully open with people. I’m a very expressive and emotional person, and I just felt like I was always holding a part of myself back and always watching what I said. When people would ask me about my family, and my family dynamics are a little awkward at the moment, I felt I couldn’t tell the whole story of why my dad doesn’t live with my mom, right? Because then it would open up more questions, and I wasn’t afraid of exposing that secret.
So eventually, I just got sick of that and decided, “I don’t care what other people think. I’m just going to start writing about it.” I wrote about it for the first two years and didn’t show anybody anything I wrote. And then eventually, slowly over time, I got more confident and started: “OK, I’m just going to try submitting to The Mighty and see if they’ll pick up my guest blog post.” They accepted it, and that boosted me up, and then I just kept trying different places. Eventually it felt normal to me to be writing about it and speaking about it, and I didn’t feel like I had to hide it anymore. And all of the horrible things that I thought would happen didn’t happen. I didn’t lose my job. I didn’t lose my friends. People didn’t say, “No, I don’t want to be friends with you,” or, “I know I don’t want to hang out with you or develop a relationship with you,” when I was meeting somebody new.
Kevin Pho: So you’ve been writing about this for the past few years. You mentioned The Mighty, and of course your piece on KevinMD. Go into more detail about the response your pieces have gathered.
Erin Paterson: I’ve actually gotten a lot of feedback from people saying, “Thank you for writing that. That’s exactly how I felt,” or, “It’s so nice to know that somebody else is going through the same thing as me,” or, “It’s so nice that people are talking about HD,” because it’s a rare disease and not a lot of people know about it. I even had responses from people who are relatives of mine, going through their own medical issues, who didn’t speak up about their own medical issues, going, “Hey, it’s not the same thing, but I’m dealing with this, and because you spoke about your issues, it makes me feel like I could speak about mine as well.”
Kevin Pho: We’re talking to Erin Paterson. She’s a writer, and she wrote the KevinMD article “A patient’s perspective on genetic testing.” Erin, knowing what you know now, is there anything that you wish you knew back before you started this journey? Is there anything that you wish you would have done differently?
Erin Paterson: I guess I wish I wouldn’t have been so afraid of other people’s reactions. I just kept everything a secret, because ultimately what I was afraid of was that everybody would reject me and I’d end up unloved and alone. And I guess I wish I had more faith in people at the time and trusted them to tell them my secret.
Kevin Pho: And for others in a similar situation to yours, what are some pieces of advice that you could share with them?
Erin Paterson: You could reach out to one or two support people that are not going to just say, “Don’t worry about it, you don’t even have the disease yet,” that aren’t going to say, “Oh, they’ll probably find a cure before you have it.” You need people who are going to support you and let you vent, and if you’re having a bad day, you can just call them up and tell them what’s going on, and they will just listen and say, “I understand.” So I would say it might only be one person or two people, but find those two people and lean on them for all the support you need, and don’t worry about what other people say.
Kevin Pho: And my final question: What’s your take-home message that you want to leave with the KevinMD audience?
Erin Paterson: Well, my take-home message would be that genetic testing can have long-term impacts on a person’s life. We have to consider the mental and emotional needs of people receiving genetic information, and we have to think about how this might impact our lives and provide them with the support they need, both before making the decision and once they’ve gotten tested. People need support with how to move on with their lives, how to have children, how to support their loved ones, and even how to deal with survivor’s guilt, how to become a caregiver. But I think most importantly, people need support with how to find happiness again and how to find meaning in their life.
Kevin Pho: Erin, thank you so much for sharing your story and insight, and thanks again for being on the show.
Erin Paterson: Thank you so much for having me.
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