Mi mamá, mi hermana y yo tenemos una mutación genética BRCA2

English

As reported to Erica Rimlinger

When my sister was diagnosed with stage 2 breast cancer, she and all of our family members were in shock. She was healthy. She was young, in her early 40s. There was no family history of breast cancer. But our initial shock would be followed by a series of subsequent scares that would affect the entire family.

Because of my sister’s age when she was diagnosed, her medical team recommended that she undergo testing for genetic mutations, including BRCA gene mutations, which are associated with certain cancers, including breast, ovarian, and prostate cancers. She had positive results on a BRCA test. BRCA2 genetic mutationswhich meant that other family members could have it. Did the rest of us have this genetic mutation too? Did we want to know?

My mom and I decided to get tested, and we both have a BRCA2 genetic mutation. Again, there were waves of shock throughout the family. Over the course of several years, 13 family members decided to undergo genetic testing. 11 of us tested positive for the mutation, including some male relatives.

At the time, I was 37 years old and breastfeeding my baby. It was a particularly difficult time for me as I learned that I needed earlier and more frequent mammograms because I would have to stop breastfeeding my son to get an accurate result. My husband and I were also looking forward to having a second child and learning that I carried a genetic mutation. BRCA2 It forced us to think about issues such as passing on the gene or possible surgery in the future. In addition to increasing the risk of breast cancer, this mutation is associated with a higher risk of ovarian cancer, a cancer that is difficult to detect because it often causes no symptoms before it spreads.

Despite that, even though the results complicated my plans, I felt that getting tested would give me the knowledge to make important decisions about my health and that I could manage my risk before a medical emergency occurred. My sister didn’t have that luxury. She didn’t know she carried the gene until she was diagnosed with stage 2 breast cancer.

My mom always had annual mammograms. But with her genetic mutation BRCA2Her health care providers recommend that she alternate between a mammogram and an MRI every six months. Just a few months after my sister’s diagnosis, my mother’s medical team discovered that she had Stage 0 DCIS, a noninvasive or preinvasive breast cancer.

It seemed incredible. She had lived so long without knowing that she had an increased risk of cancer. And just when she found out, the cancer had already started in its early stages. Her diagnosis was helpful in helping her and her care team prepare the best plan of action. Her cancer treatment was followed by a salpingo-oophorectomywho removed her ovaries and fallopian tubes to prevent cancer in those areas.

As I helped my sister and mom navigate their treatments, I was thinking about my own medical decisions. The question of when my husband and I would be able to have a second baby, or if it was even possible, plagued my mind. Mammograms are not routinely performed during pregnancy and are less accurate while breastfeeding. I knew I couldn’t go years without testing. My sister’s stage 2 cancer appeared six months after a mammogram with no abnormal results. I decided to use the information I received from my genetic testing to put steps in place to protect my health.

I scheduled a double mastectomy for the first week of January 2019. Three days after surgery, my surgeon called me to tell me I had made the right decision. A medical team discovered the cancer. Like my mother’s cancer, mine was stage 0.

The knowledge of my genetic mutation. BRCA2 It gave me the best chance in a bad situation. They removed my cancer before I knew I had it. Knowing my BRCA status allowed me to make important decisions about my treatment.

But there were other things I needed to consider. I was worried about putting off the ovarian surgery they recommended until after another possible pregnancy. What if I took too long to get pregnant? What if I passed on my genetic mutation? My doctor recommended that I take the time and space I need to heal, to feel what I needed to feel, and to make the decisions I felt were right for me.

We were lucky, I got pregnant quickly with our second child, right after the pandemic started. A few months after his birth, I scheduled the final surgery that would eliminate the most urgent risk of having a genetic mutation. BRCA2: a salpingo-oophorectomy. The most stressful part of this consideration was knowing that I wouldn’t be able to hold my baby while I was recovering from surgery. I had flashbacks to when I wasn’t able to hold my first child after my double mastectomy and reconstructive surgeries.

Even when I was stressed about family planning, I knew that knowing my genetic mutation BRCA2 It was an immeasurable gift. The gift of knowledge allowed my mom and me to detect cancers early and get personalized treatment plans designed by our healthcare provider. We had time and options on our side. Knowledge empowered us to implement steps for better outcomes, before and after we were diagnosed with cancer.

We can’t choose our genes, but we do have the option of knowing what they tell us. I don’t know many people who consider a family with so many genetic mutations. BRCA2 blessed, but I think we are incredibly lucky. We are lucky to live in a time when we can understand what our genes tell us. We are lucky to have choices when it comes to our health and preventative care. Most of all, we are lucky to support each other as we face this challenge together. Genetic mutations BRCA2 and breast cancers caused waves of shock in our lives, but facing them strengthened and improved our relationships.

Visit beBRCAware.com to learn how genetic testing can provide important data about cancer risk and how it can be helpful in making treatment decisions after a diagnosis.

This educational resource was prepared with the support of AstraZeneca andbeBRCAware.com.

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