Genetic Disorder Brings Mother To Hardest Decision

After learning that her grandfather and brother suffered from a genetic disorder that they inherited from their mothers, Bonnie Rough began wondering whether she was a carrier of the disorder and might pass on that gene to her future children. Host Liane Hansen speaks with Rough about her new book, Carrier: Untangling the Danger in My DNA.

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LIANE HANSEN, host:

A genetic disorder snakes through Bonnie Rough's family tree - hypohidrotic ectodermal dysplasia, or HED, is carried by mothers and passed on to sons. Sufferers of the disorder cannot sweat, have trouble breathing, sleeping, staying awake and offer appear ill - many are. Immunodeficiency associated with the condition may lead to a lifetime of infections.

Until the human genome was mapped, the women and men in Rough's family only knew that something was wrong, not what caused it. Bonnie Rough researched the disorder and discovered she was a carrier. In her new book, "Carrier: Untangling the Danger in My DNA," Rough tells the story of her own tough decisions and how the effects of HED ripped through her family.

Bonnie Rough is in the studio of member station KUOW in Seattle, Washington. Welcome to the program.

Ms. BONNIE ROUGH (Author, "Carrier: Untangling the Danger in My DNA"): Thank you so much, Liane.

HANSEN: Bonnie, how did you discover that HED ran in your family?

Ms. ROUGH: Actually, I had always known from my mother's stories when we were growing up that her father had struggled with a disorder that turned his life in many ways into a tragedy. My grandfather Earl died penniless, alone and addicted to drugs at the age of 49, when I was just a baby.

HANSEN: How is it that he came to die so early?

Ms. ROUGH: By that time in his life, his body was ruined by drugs but also by infections and by organ failure and also by pain and depression.

HANSEN: You were the first generation to actually be tested. Was there any way you couldve avoided the condition? In other words, it's 25 percent if you're pregnant that you'll pass it on. But what were the chances that you would actually have it?

Ms. ROUGH: Knowing that my mother is a carrier of the disorder, half of her daughters, statistically speaking, you know, in theory, would be born as carriers. So, this is written in my DNA, along with those stories from my family history, which I chased down in order to try to give myself some historical context for what choices to make for the future of my family.

Many families have the same tricky choices. You could just choose to go on and see what fate hands to you and accept that. You could decide no risk is worth it, we're not going to have children or we may adopt. Dan and I, through the course of this story, thought that - we considered all of those options, but in the end decided that we did want to have biological children and we did want them to be healthy.

So, that meant that our options really were two: we could spend tens of thousands of dollars for in vitro fertilization and pre-implantation genetic diagnosis of embryos. In other words, doctors would choose embryos that had no sign of the disorder to implant in hopes of creating a successful pregnancy. The other choice would have been to start a pregnancy in the usual way and then test the fetus through a process called chorionic villus sampling or later with an amniocentesis in order to find out whether the baby had inherited the disorder and then potentially face an excruciating decision.

HANSEN: I'm speaking with Bonnie Rough. She's the author of the book, "Carrier: Untangling the Danger of My DNA." Your first pregnancy, you knew you were having a girl?

Ms. ROUGH: Well, we didn't know we were having a girl right away. I had experienced with my first pregnancy a tentative pregnancy, and knowing that we would get DNA results back about the baby's health at around 13 weeks of pregnancy. The news that we were having a daughter was truly a day for celebration.

I did have a brief second pregnancy where we did the same kind of testing and, unfortunately, got the news that our baby would be affected with the disorder that runs in my family. So, we did ultimately face the very difficult choice that I spent years preparing myself for and laying out a plan.

HANSEN: You had a procedure. The pregnancy was terminated. How do you describe your own emotions at that time?

Ms. ROUGH: My emotions at that time were a surprise to me, actually. I had spent probably three years researching my family history, asking myself what had happened to the people in the past and how that could possibly relate to my potential children in the future and how to use those stories as a touchstone for making these big choices.

And I was unsure all the time whether the way I was using those stories in my heart and whether the plans that my husband and I were laying with love and mercy in mind would feel right if we ever really were faced with that crisis moment. And I was so relieved that they did. It was not easy but I did not feel that I wanted to go back or change my mind.

The other surprise for me - the real surprise for me was in that moment when my genetic counselor called with the devastating news that our baby wasn't going to be healthy, I was crying in my husband's arms and feeling at the same time this swelling of gratitude, which stunned me - how could I feel thankful in this moment? But I really did. I felt so grateful that I could know and that I could choose.

HANSEN: Bonnie Rough is the author of "Carrier: Untangling the Danger in My DNA." She spoke to us from the studio of member station KUOW in Seattle, Washington. Thank you so much.

Ms. ROUGH: Thank you, Liane.

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