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    • Mar 27, 2021
    • 5 min read

BRCA gene

Did you know all have the BRCA gene? both men and women! - the catch is to test for any mutations...



Courage it what comes to mind when I think of one word to describe my last event. Guest Speaker Erica Crucitti, now in her early forties, tested BRCA positive in her late twenties. At that, time she had a new baby and was looking forward to having more children in the future.


Erica’s story begins with her beloved aunt whom she lost in her teenage years to ovarian cancer. As she spoke about her aunt, it was easy to sense that this aunt had been incredibly loved and special to Erica and her family, and that her untimely departure (she was 41 when she passed away) set a profound mark of before-and-after in all of their lives.


At the time of Erica’s aunt’s passing, late 1980s, there was nowhere near the amount of information we have available today regarding women-related cancers. There was no mass-available genetic testing such as 23andme or AncestryDNA, and the technology for screening was still very much in progress. Important advances in surgery and chemotherapy had been made in the 1980s, but their long-term impact was limited by the fact that patients were being diagnosed once the disease was already in its advanced stages.


It wasn’t until the early 1990s, when two genes were found altered in many families with hereditary breast and ovarian cancer. BRCA1 (BReast CAncer gene one) was discovered in 1994, and the second, BRCA2, in 1995. The discovery of the mutations in the BRCA genes shed an undisputed light that familial link is a predictor for an increased risk in developing breast or ovarian cancer. (1)


Fast forward to mid 2000’s, public awareness for BRCA genes was on the rise. The general rhetoric within the medical guild was to urge women to test themselves if breast or ovarian cancer ran in their families. Erica, fitting perfectly into that mold, decided to get tested.


At this point Erica shares with us her thoughts in retrospect to this moment: “If there is one piece of advice I could give to another woman that has decided to get tested is: have a plan.”


As much as the BRCA testing awareness campaign at the time was a step in the right direction, the conversation was more about encouraging women to get tested, and less so about what testing positive would actually entail. What came next? What were the options?


Test results come back, Erica was positive.


Erica was now left to grapple with a new and scary reality for herself. Endless questions, so many different scenarios, so many what-ifs.


And this is what Erica refers to as “have a plan”. When she decided to get tested, she shared that she didn’t think thoroughly about what exactly she would do if her results were positive, nor did she thoroughly understand the extent of its impact. Once the results were in, she was overwhelmed with what to do next: would she have to have a double mastectomy done immediately? or would she have to do a prophylactic oophorectomy (which implies surgically removing healthy ovaries). Could this impact her plans for a growing family? How did she and her husband feel about that? and on and on.


Having a plan and having your direct support group equally as informed as you and 100% onboard with you, is one of her key messages. Luckily Erica had an amazing support system with her husband, sister, mother, and close friends.


As Erica continued to share her personal journey with us, she gave another tidbit of wisdom: “if you are genetically high-risk and are going to get screened periodically – make sure you go to a place that specializes in genetic screening”. In other words, not all imaging centers have the latest technology and it makes a huge difference, as Erica says, to get a mammogram done with state-of-the-art machinery and highly trained personnel.


“If you are genetically high-risk and are going to get screened periodically – make sure you go to a place that specializes in genetic screening."


After her results, she decided not to do any definitive surgery just yet, given her young age and stage of life she was in forming a new family. Instead, she opted for periodic screening. She was diligent in her screening going to her local imaging center, yet she shared that it was an awful experience. She had a few scares and waiting to be in the clear after each scare was emotionally shattering. It wasn’t until her sister casually met a person that had a connection with the Memorial Sloan-Kettering Cancer Center, whom wisely advised her that Erica ought to be doing her screening there instead.


“Go to the best place you can” Erica advised, “had I been at Sloan Kettering from the get-go I could have saved myself the scares, they simply didn’t have the technology or the specialized knowledge at my local imaging center”.


There are a number of specialized centers in our area in addition to Sloan Kettering in the city, one being the Yale-New Haven Breast Center. Inquire with your doctor for more information if needed.


Her journey continues as she shared the ups and downs of going through fertility treatments for her second child, and her experience of having to outweigh the inherent increased risk that hormone treatments pose to developing breast cancer. Some studies suggest that fertility drugs seem to affect breast cancer risk in younger women. The extra estrogen may stimulate the growth of hormone-receptor-positive breast cancer cells. (2)(3)


She finally found the right fertility doctor, highly experienced, that supported her and her husband through the maze of fertility while being BRCA positive, and they were blessed to welcome their second daughter.


Erica then decides to go for surgery: ovaries and double mastectomy. She shared the ups and downs of taking that decision, taking another thousand other related decisions to that big one, having the surgery, getting her implants recalled…yet, all in all, it was successful.


And this brings us up to that evening. In my living room. With her loving sister and close friends supporting her from the audience. An amazing group of women together, listening to her and to one another.


I think I saw pretty much every person in the room raise their hand at some point and share something – whether it was a sister, a mom, a mother-in-law, a friend, a beloved aunt or themselves. So much was shared. So much was learned. It’s hard to convey in words the intangible emotional environment that emerged that evening from the conversation. All I can say is that that night we were a tribe, in this together and connected.


Erica, who now owns a personal organizing company (wink * wink* good-to-know (4)), says that she feels this is her call: to use her experience to help other women that are going through the same or similar situations. Please feel free to connect with her if you need to. DM me for her contact information.


Thank you, Erica, for sharing your very personal and hard journey to help us all. You are a precious member of our community and we are so lucky to have you!


With intent,


Juad








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