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Family physician Rebecca Thompson discusses her article, “The weight of genetic testing in a family,” an excerpt from her book. She shares a profoundly personal story from the memoir about a woman who is a carrier of the Huntington’s disease mutation and an expectant mother facing the agonizing wait for her baby’s genetic test results. Rebecca explores this powerful narrative, the emotional detachment used as a shield during the pregnancy, and the devastating impact of Huntington’s disease on the family described, particularly the grandmother. The discussion explores the complex, personal ethics of genetic testing, the burden of knowledge, and the stark memory of a young boy in a neurology clinic that shaped the protagonist’s views on motherhood and this incurable disease. Learn about the impossible choices and emotional weight carried by families facing a devastating genetic mutation.

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Transcript

Kevin Pho: Hi. Welcome to the show. Subscribe at KevinMD.com/podcast. Today, we welcome Rebecca Thompson. She is a family physician, and today’s KevinMD article is “The weight of genetic testing in a family.” Rebecca, welcome to the show.

Rebecca Thompson: Thanks, Kevin. I have been looking forward to this.

Kevin Pho: All right. Before we talk about your article, let’s briefly share your story.

Rebecca Thompson: The story comes from the book that just came out recently that I have written with a group of women in my life. It all came about back when I was first finishing up residency and starting out on my first attending-level job. My husband and I endured a string of very complicated pregnancy losses and complications and so many things. It was incredibly isolating even as a physician who understood the system and was used to helping other people navigate it.

But as I did begin to find my way through these struggles and open up to others about what I had been going through, many of the women around me started opening up also and offering back their own stories in return. I realized that I really wanted to find a way to preserve what we learned and what we were all learning as we went through this to create and sustain our family so we could make something useful out of our challenges and give it back to others.

With the power of those connections in mind, I reached out to this group of women, people I was already fortunate enough to have in my life, and asked if they would like to collaborate. Then I worked with each of them individually to capture that most compelling version of their story that they could in the hopes of helping other women and families feel less alone through these ups and downs of family life.

Kevin Pho: And your book, of course, is titled Held Together: A Shared Memoir of Motherhood, Medicine, and Imperfect Love. The excerpt on KevinMD is “The weight of genetic testing in a family.” For those who didn’t get a chance to read your excerpt, tell us what it is about.

Rebecca Thompson: Yes. This is a piece from Olivia’s chapter called “Anticipation.” It tells the story of her experience as a child growing up in a family with a mysterious genetic condition that was ultimately discovered. You find out right at the beginning of her story that she is positive for Huntington’s disease. She has been tested, and she knows she is positive. You learn about how that all unfolded in her life.

But at this moment, you are waiting to discover with her if the child that she is pregnant with will also carry the mutation. In reading this, you walk through that experience. You wait to find out alongside her what is going to happen to the child and what she and her husband might decide to do with the information. So it really just explores all those nuances of the decisions that we make and how we move forward in our lives in the face of uncertainty.

Kevin Pho: And for those who aren’t familiar with that genetic predisposition to Huntington’s, just give us a little bit of context and background for those who may not be familiar with that disease.

Rebecca Thompson: It is an autosomal dominant disease, which means that if you have just one copy of the mutation, you are essentially guaranteed to get the disorder if you live long enough to manifest it. The idea of anticipation in Huntington’s means that because of these repeats, because of the problem that causes it in the genetic code, it becomes more and more pronounced with each passing generation. More repeats become added, and “genetic anticipation” is the phrase that means that this happens.

When a parent has Huntington’s, it is a 50 percent chance their child will have it. But if a child has Huntington’s, it is known that one of their biological parents had it. That raises a lot of questions about who wants to be tested and what implications it has for their life and their decision-making. Anticipation becomes a double-edged sword: You can know the information, and you can anticipate what you might do with it. It is all these layers of meanings about how we take information and context in our lives and how it shapes our paths.

Kevin Pho: As this story was being told, tell us about some of the biggest challenges that were going through the storyteller’s mind as she was navigating this difficult path.

Rebecca Thompson: For her specifically, I can’t say I can speak for her, but from what she shared with me, I think it was really about what she saw the people who came before her in her family go through because of whether they carried the mutation or not, how having this in the family affected them, and how she wanted to raise her own family. If she did have children, how would she raise them? Whether they were positive or negative for the marker, what would it mean for them? So she was looking back at generations and forward at generations from her vantage point right in the middle.

I will speak to the bigger picture of how the story influences people and how it came together. I think everybody, when I first approached all these women (Olivia included), felt like: “Why would you want my story? I am just an ordinary person.” But I feel like stories like hers, stories about families and these moments when ordinary people are facing extraordinary challenges, are the most riveting stories out there. So they question if their story is interesting enough. I think this is the core of what we are all drawn to: people just like us facing things that maybe we could never imagine but ultimately feel so relatable when we hear them talk about how they influence their lives.

Kevin Pho: In this particular story that Olivia shared, what were some of the lessons that you want readers to come away with after reading her story?

Rebecca Thompson: I think it comes in the part where she explores the questions that she has about what her future holds and contrasts the experiences that some of her friends have as she is learning about her own medical situation and her possible child’s medical situation, and then what paths people’s lives take that they never saw coming.

What I mean by that, without giving total spoilers for the story, is she knows that she carries this gene and she wonders how much that will cut her life short. It affects her ability to participate in the way that she fully envisions. As she is grappling with that, she has friends who go through something completely out of the blue that changes their life, and she loses a friend. A friend of hers dies out of nowhere. That was the most vibrant person in their community, one of the people you thought would live forever, and she is taken from their lives.

What she comes to really understand is that nothing is guaranteed. She can worry and wonder about what her diagnosis means for her and her family, but ultimately she has to live without being cliché about it. She has to live in this moment and do what she can with what she has right now.

Kevin Pho: And through your lens as a family physician, what were some of your thoughts and perspectives when you decided to include her story in your book or when you first heard it?

Rebecca Thompson: I think her story speaks to the fact that never is that more meaningful than right this minute where everything can feel so overwhelming. But we can carve out a space where something is meaningful. We can do something good, we can do something positive, even if it feels small or temporary. We don’t need to get overwhelmed with everything the world needs. We can figure out: “What can I contribute? What can I bring? How can I share a story that will compel others and inspire them too?” For me, this translates into writing this book and collaborating with all these incredible women. Their stories just keep me going and help me stand up for human rights, reproductive rights, and just the right of people to shape their own lives.

Kevin Pho: This story comes from your book, of course, Held Together: A Shared Memoir of Motherhood, Medicine, and Imperfect Love. So, zooming out a bit, for readers who go through your book, are there any common themes perhaps that connect the stories that you included?

Rebecca Thompson: Oh, so many, and the interesting part is that they continually surprised me as I was learning about each woman’s story. I mean, it is everything from looking back and realizing something about the family, your family of origin, whether that is biological or adoptive or through surrogacy or fostering or chosen family. We are all just people shepherding each other’s stories and trying to make meaning, create meaning, not just find it, but truly create it out of our stories.

Family is so much broader. Motherhood is so much broader than biology. So I think the core of this book is about who we choose to surround ourselves with and the meaning that we choose to make out of our lives or the people that we include and whose stories we value.

Kevin Pho: And then for the readers who read your book, what are some of the key messages you would like them to come away with?

Rebecca Thompson: I think that the biggest picture is that you can tell just from this little bit that we have talked about, a lot of the things these women face are really, really challenging. They are some of the most challenging things that any human might face in their lives, but this is not a sad book. The stories are difficult, but when you take them together, they are so powerful and they become something truly hopeful. There is something so much greater than any one person’s struggle. We really see that all of these stories are about growth and change. That is always inspiring.

Kevin Pho: And after writing this book and hearing these stories, has it affected the way that you have talked with patients in the exam room, speaking as a family physician?

Rebecca Thompson: Yeah. I mean, my practice has evolved and changed so much over the years and in all sorts of different settings, but I think that it really helps me think about the stories behind that one moment in the encounter. Even when we have a very focused time to help someone with a specific health question or issue that is happening in that moment, we can bring the context and the knowledge of their backstory. We may not have time to learn it all that day, but we can see them as a more full, complicated person, and I think that makes the interactions richer no matter how long they are.

Kevin Pho: We are talking to Rebecca Thompson. She is a family physician. Today’s KevinMD article is “The weight of genetic testing in a family,” and it comes from her book Held Together: A Shared Memoir of Motherhood, Medicine, and Imperfect Love. Rebecca, let’s end with some take-home messages that you want to share with the KevinMD audience.

Rebecca Thompson: I think one of the biggest take-home messages would be that big-picture idea. We don’t have to be defeated by our challenges or even made smaller. It is so powerful to use these kinds of lessons to learn more about who we are and who we are capable of becoming. We can always be becoming something more and maybe even find a bigger purpose outside of ourselves about what these stories can offer others, especially when we use them to build community. So I hope that this book and our stories will help start those kinds of conversations and invite others to join us too.

Kevin Pho: Rebecca, thank you so much for sharing your perspective and insight. Thanks again for coming on the show.

Rebecca Thompson: Thank you, Kevin.