Katrina Wells’ second daughter was a happy surprise – and the catalyst that might have helped saved her life.
When Katrina, a native of New Jersey, learned she was pregnant only 18 months after her daughter Avelin was born in 2010, her pregnancy bloodwork included a revised panel because of her Ashkenazi Jewish heritage. Women in this ethnic group are at a significantly higher risk of having one of three “founder mutations” in the BRCA1 and BRCA2 genes. A “founder mutation” is a gene mutation specific to a small group of people that was isolated for location or cultural reasons, and so has a higher chance of passing on specific genes to descendants, according to Breastcancer.org. Other groups with this phenomenon include the Amish community and people in rural Appalachia.
That panel changed everything for Katrina. After undergoing genetic counseling for an unrelated finding, she went on to learn that she was positive for the BRCA1 gene mutation. Since then, she’s been on a “previvor” journey, undergoing prophylactic surgeries that could well save her life, sharing her story on her blog, Curiosity Saved the Kat, and relaying information about the gene mutation with family (her sister tested positive, too, and had a mastectomy in August 2017 “pre-kids, same surgeons,” Katrina says), friends, and all who will listen.
And that second daughter? Is now a thriving little girl named Carys.
Here’s Katrina’s story.
HealthCentral (HC): How did you find out you have the BRCA gene mutation?
Katrina: My midwife called me to let me know I'm a carrier for a disease called Canavan's [after that pregnancy bloodwork]. Being a medical editor, my Google skills went into overdrive. I found out it's recessive and quite rare, except that its frequency in the Jewish population is the same as the BRCA mutation — 1 in 40 Ashkenazi Jews are carriers.
My family has known about BRCA since I was about 14 when my aunt was diagnosed with ovarian cancer. Just a couple years prior to her diagnosis, the BRCA discoveries were made. Having lost her mom [my grandmother] to breast cancer when she was just 16, my aunt asked about the new tests and was told that if she tested positive, her health insurance could drop her. Not wanting to risk that for herself or her children, she did not pursue the test. When she was diagnosed, she asked her doctors what they would have done if she had tested positive. A full hysterectomy, they replied. We will never know if that would have spared her a cancer diagnosis, but it always stuck in my mind. Before my surprise pregnancy, I had been bugging my dad to get tested as it was his sister and mother who died from ovarian and breast cancer, respectively.
So the frequency of Canavan’s stuck out to me. I had wanted to put off my own testing until I was done having kids, but this new panel was bringing it front and center. My husband had to undergo genetic counseling in order to have him tested for Canavan's. As we sat with the counselor and drew the requisite family tree, she gently told me that when I was ready, I really should have BRCA testing done.
Are you ever really ready for that?
But, in reality, maternity leave was a good time to figure out the logistics of it all. I had my blood drawn while my newborn slept soundly in her carrier and found out I was positive for BRCA1 when she was just 4 months old.
HC: What was your reaction when you learned?
Katrina: It's hard to pinpoint one emotion. There's an initial gut punch, knowing this is going to impact your life. There's almost a sense of relief, knowing that your family tree wasn't randomly struck by lightning twice and there really is a reason. There's a feeling of betrayal and a sudden weight of bombs with unknown timers attached to your body.
But for myself and my husband, there was a morbid humor and an attempt to find the good. The genetic counselor asked him, "How do you feel?" I couldn't help but quip that he was regretting marrying a woman just like his mother, who passed from breast cancer the day after our first daughter was born. He laughed, but replied that in a lot of ways, we had hit a bit of a lottery. He was the one that first framed it for me that I don't have to be surprised by a cancer diagnosis, ambushed like his mom or my best friend. With this diagnosis, he pointed out, insurance will pay for me to beat cancer to the punch.
HC: What did you do next and what’s happened since?
Katrina: I had a longer journey than some. Since I was nursing my daughter when I found out, we decided to concentrate on that. I began my relationship with the Basser Center for BRCA, which at the time was the only center dedicated to those predisposed to cancer, and had appointments every six months. After weaning my daughter, my husband and I had quite a few discussions. I didn't want to rush into anything. I didn't know if I was done having kids. I decided to have a year for me — not pregnant, not breastfeeding, no surgeries — and then see where we stood.
As it stood, I was not ready to give up on having a third baby. My husband was getting nervous, so we agreed that if my MRI was clear, that we would give it six months to try for a baby. If I wasn't pregnant within those six months, we would move forward with scheduling surgeries.
We were blessed with baby girl number three [Finley] and I tried not to freak out over every lump, bump, and ache in my breasts for nine months. I was fortunate enough to meet with surgeons at the FORCE annual conference, to use my pregnancy to decide my next steps. I put it all down: deliver the baby, take out my tubes (new research points to 75 percent of ovarian cancer starting there), nurse for six months, be weaned for six months, and proceed with my mastectomy just before her first birthday.
I was lucky enough that all of that — more or less — went according to plan. I had my first scare and biopsy after my first MRI post-nursing, and the fear I felt in that week was enough for me to go through with the surgery. I had direct-to-implant surgery, so I was holding my baby on her first birthday (three weeks post-op) and back to work at four weeks. I've had issues with capsular contracture and I have had two revisions, but overall, I'm still satisfied with all of my choices.
I still need to have my ovaries removed, but as I have had the mastectomy, I plan to do that soon and take hormone replacement therapy as I will still be in my 30’s when I put myself into menopause.
HC: What would you share with someone who just learned they have this gene mutation?
Katrina: Take a deep breath and remember you're the same person you were before you knew. Nothing has changed except your knowledge and your ability to be proactive whether it be through monitoring or surgery. Each mutant has his or her own path that is determined through his or her priorities — family planning, profession, desire to avoid implants, wishing to increase size, etc. No one journey looks exactly the same, so take some time to decide what the best choices for you are. Join support groups like FORCE or Bright Pink; stalk the Facebook groups like BRCA Sisterhood and Young Previvors. And find a team of doctors that can support you. I like to call my medical oncologist my quarterback. She helped me through four years of monitoring and to find the right surgeons at the right times. She stays up to date on the research and I can talk to her about news I've heard or my own priorities.
Importantly, remember that the pressure you're feeling right now is mostly self-imposed.
Vigilant monitoring is being proactive. Surgery is not your only option, though it may seem that way at first.
HC: What will you tell your daughters about their risk?
Katrina: Probably a lot of what I would tell anyone. Though they're young now, they realize their grandmother isn't here because she was sick. They realize mommy's best friend isn't here for the same reason. When I had my surgery, my older two were just 6 and 4, but I told them about it. I didn't hide it. We equated it to when they visit the pediatrician and get a shot. What I was doing would hurt for a little bit, but it would keep me from getting sick later. They have shirts and they are starting to grasp bits and pieces here and there.
I chose the path I did so that I could be here with them and I hope to frame this in a way that they feel empowered rather than scared. My biggest concern right now is that since they didn't see cancer firsthand, they don't have the healthy fear that motivated me to test and to act. I plan to be open and honest with them and pray they don't resent the weight of it all down the road.
See more helpful articles:
Testing Breast Cancer Risk at Home: Is It Worthwhile?
BRCA1 and BRCA2: No Longer the Only Troublesome Genes Out There
4 Ways To Reduce Cancer Risk Linked To BRCA Gene Mutations