My Diagnosis, My Choice: What It Means To Be a Carrier
Genetic conditions have made their way into public dialogue in recent years, but not many people understand the decisions patients, particularly women, have to make once they have their diagnosis.
“Are you nervous?” My gastroenterologist asked me. Tears started making their way down my cheeks as I lay on the examination table.
“Yes, I am.”
“It’s going to be fine. I’m going to have you count backward from 100 and then it will be like you woke up from a nap, OK? Start counting for me.”
Then, it was over. My first colonoscopy and endoscopy were finished. I was 25 and getting my first round of screenings and testing done. A month prior, I discovered I carry a genetic mutation known as Lynch syndrome, or hereditary nonpolyposis colorectal cancer (HNPCC), which substantially increases my risks of early onset cancers of the colon and rectum, stomach, intestine, liver, pancreas, gallbladder ducts, upper urinary tract, brain, skin, and, since I’m a woman, the endometrium, ovaries, and breasts.
Genetic conditions have made their way into public dialogue in recent years, but not many people understand the decisions patients, particularly women, have to make once they have their diagnosis. My diagnosis, while manageable, has changed my life forever, and the women I’ve spoken with, who are also carrying a genetic mutation, have had to confront similar life-altering decisions. I’ve learned through this experience that it’s critical for women to have access to information, resources, and—most importantly—other women’s stories to help them better understand what options are out there and what’s best for their situation, which may or may not be what their doctor thinks is right.
“The Family That Prays Together…”
I, like many other people in my situation, realized I had this mutation because someone else in my family got cancer. While I was teaching English in South Korea nearly two years earlier, my mother called me.
“Honey, I don’t want you to worry.” This can’t be good.
“But, I went to the doctor and they believe I have uterine cancer. It’s OK though; they caught it early.” At 59, my mother had a hysterectomy and underwent radiation therapy. But then, less than a year later, they found cancerous polyps in her colon during a colonoscopy.
Since my mother had two types of cancer so close together, her doctor advised her to have genetic testing done for Lynch. Her results came back positive, and she was told to urge her living blood relatives to get tested as well.
But when I came back from Korea, I didn’t have health insurance or a job. My mom said it was no big deal and her doctor agreed. Based on my personal and family history and genetic test results, I was told it would be fine to postpone testing for a few months since I was only 24 at the time. However, this is not always true for all patients and depends on their family’s history of cancer and the genetic condition itself.
“It’s Going To Be Fine”
About five months later after I had a steady job with good health insurance, I met with a genetic counselor, took a family history, and had blood drawn. They told me I had a 50/50 chance of having the mutation—an unlucky coin toss.
My results took about a month and a half to come in. I scheduled another meeting with my genetic counselor to discuss my results and what my condition meant—what my risks of cancer were, procedures I could undergo to reduce my risks, and what it meant for my future family plans.
I had to meet with a gastroenterologist and a gynecologist who specialize in treating Lynch patients. We talked about the different screenings I would have to do, including a colonoscopy every year, regular transvaginal ultrasounds, Pap smears, and biopsies. They both talked to me about how they wanted me to have a hysterectomy once I was done having children.
“It’s going to be fine. Have your kids and then we’ll do the surgery, just have your kids earlier, like by 35 or so,” my gastroenterologist said ever so nonchalantly.
I know her intentions were good, and I know having a hysterectomy is ultimately what I should do—as should many other patients with genetic conditions that affect women’s reproductive systems, such as the BRCA 1 and 2 mutations and Li-Fraumeni—since the procedure significantly reduces the risks of uterine, ovarian, and breast cancers. I want to have kids before 35 anyway, so no big deal right? That is unless I’m not ready to have kids by the time I’m 35. And is the procedure even covered by health insurance?
Well, that depends on the insurance company, and whether a patient’s doctor deems the procedure medically necessary for either the removal of cancer or cancer prevention. For example, Aetna medical policy states, “The medical literature suggests that a prophylactic [preventive] hysterectomy should be performed in conjunction with oophorectomy [removal of the ovaries] in women from families with Lynch syndrome I.” In other words, because Lynch patients are at risk for both uterine and ovarian cancers, a prophylactic hysterectomy in conjunction with oophorectomy is covered.
Beyond the insurance issue, though, a hysterectomy is not so easy on women. For some women, it’s hot flashes and a slight drop in libido. But for many others, like Georgia Hurst, it can be an even bigger deal.
Hurst discovered she had Lynch syndrome after her brother died of colon cancer and her other brother was diagnosed with the same. Since Lynch patients are at a higher risk for ovarian cancer and, according to the American Cancer Society, “currently there are no reliable screening tests [for ovarian cancer],” at the age of 40, Hurst underwent a prophylactic hysterectomy and oophorectomy in order to prevent cancer to her reproductive organs.
“I suffered tremendously two years after my surgery,” she said. “I started having debilitating nausea, vomiting, and migraines. I sought out various doctors for help, but they told me it was all in my head.”
Hurst was on a small dose of estrogen to counter the effects of her surgically induced menopause. She was eventually prescribed additional hormones, but those did not alleviate her emotional symptoms.
“No one close to me understood what I was going through,” she said. “My friends were having babies while I was having my reproductive organs ripped out.”
In another case, Pamela Esposito-Amery, the CEO and co-founder of the Tell Every Amazing Lady About Ovarian Cancer (TEAL) Louisa M. McGregor Ovarian Cancer Foundation, discovered she needed to be tested for Lynch syndrome when her sister Louisa was diagnosed with ovarian cancer at age 41.
“I really had no idea what [getting genetic testing done] even meant,” she said. “I knew I had to give blood and they would run a bunch of tests on [my genes], but I didn’t really think it was a big deal at all.”
But when her results came back, Esposito-Amery recalled, “I just felt like a bomb went off. I [had been] so concerned with my sister and what treatment she was getting that I didn’t even think of my own gene mutation.”
When Esposito-Amery started discussing a hysterectomy with her doctor, she and her husband had already decided not to have children. It wasn’t the idea of not being able to have children or the emotional element of a hysterectomy that scared Esposito-Amery most, though that was part of it.
“I haven’t had the surgery yet and it kind of feels like, ‘OK, last call, [a pregnancy] isn’t going to happen,’” she said. “But early menopause also puts you at risk for other things, so you try and fix one thing and it can actually affect other things.”
Those other things are an increased risk of osteoporosis, heart disease, and cognitive issues. Having your ovaries removed does not mean these issues will occur, but because of the lack of estrogen in the body, “menopausal symptoms you develop will occur earlier and are more likely to reduce your quality of life than if they occurred during natural menopause,” according to the Mayo Clinic.
“Patients Are Not One-Size-Fits-All”
Over the past 22 years, Linda Zercoe has had five different types of cancer and more than 20 surgeries. Over the course of this time, she was diagnosed with Li-Fraumeni syndrome, another hereditary genetic condition that increases a person’s risk for several types of cancer.
Before Zercoe was diagnosed with her genetic condition, she had a recurrence of an abnormal mass in her uterus that she had been told would not return. It was then that she opted for a hysterectomy at age 43.
“After the surgery I was fine,” she said. “I was pretty used to the scar from my other surgery, but I thought to myself, maybe they should have put a zipper in!”
But Zercoe said that after about a week, things changed.
“I felt trapped and enraged, like an animal,” she said. “I became obsessed with suicide and kept thinking about all the different ways I could kill myself. My mood change was so dramatic and severe. After more than a few days, I realized these feelings must be from the loss of hormones.”
The Mayo Clinic suggests that women who have an elevated risk of breast cancer should not have pre-menopausal hormone replacement therapy as it can make breasts look denser on mammograms, making breast cancer more difficult to detect.
However, Ellen Maltoff, a genetic counselor who has spent nearly 20 years in this field and has worked with more than 8,000 families, said one of the most important things doctors can do for their patients at high risk of developing cancer is listen.
“It is a delicate conversation, and people are being given these very rigid options,” she said. “There should be as much listening as there is talking from the provider’s point of view. It’s about listening to what the patient wants and where they are in life in order to guide the right surveillance and risk reduction for that individual.”
When Maltoff started her genetics career at the Cancer Genetic Counseling Program at the Yale School of Medicine, she was 25 years old, unmarried, and had no children.
“I thought about how I would feel if I heard, ‘We know this is what you thought you were going to do with your life'”—have children, not worry about cancer—”‘but now that’s over. You need to have your ovaries and uterus removed now,’” she said. “It really reframed the way I had those conversations with patients.”
There’s been discussion around this idea of more personalized medicine thanks to President Obama’s announcement at the beginning of this year to include $215 million in his 2016 budget for a Precision Medicine Initiative. The idea is to reframe the one-size-fits-all approach to treatments to take better account of “individual differences in people’s genes, environments, and lifestyles.” On March 30, the National Institutes of Health announced the formation of a team of experts to define the scope of the initiative’s research network, which includes the collection of volunteered biological, environmental, lifestyle, and behavioral information, and tissue samples with qualified researchers from a million or more research participants. The NIH also announced that the team will be delivering a preliminary report in September 2015 “that will inform efforts to accelerate the understanding of individual differences that play a role in health, with the goal of informing better prevention and treatment strategies tailored for each person.”
While I do trust my doctors and believe they have the best medical intentions at heart, there’s still a part of me that feels I’m being pressured into something I don’t fully understand. What is really going to happen to my body if I have a hysterectomy at 40? Will I be able to have hormone replacement therapy if I need it? Should I get pregnant sooner? Should I even have children at all given they have a 50/50 chance of carrying the same mutation? I’m 26, so I have time to think about these things. It does feel like there’s a clock above my head ticking away, just ticking and ticking, but at least I know now that I’m not alone, and there are other women out there hearing the same clock as me.