Hereditary Cancer Beyond BRCA
I wanted to get a few other perspectives from other previvors to include in my blog because everyone facing this difficult decision has different stories, different family histories and have chosen different routes for reconstruction after mastectomy. My first “guest” is Alli Plourde. Read her story below to learn about her journey with the ATM gene mutation, which is different than BRCA.
Love and boobies,
Allison
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My name is Alli. I am 46 years old and carry the genetic breast mutation gene ATM. This put me at a 45% risk of breast cancer in my lifetime. I also have very dense breasts and a family history.
I found out I carried the ATM gene this last February. I had a GYN appt. I was asked if I wanted to be tested to see if I carry any genetic mutations associated with breast cancer. I declined. My dr then said “It’s free. And with your family history why not?” I was having blood work anyways and thought why not? I was told the test would take 6 weeks to get results. I wasn’t worried about it at all. I was positively sure it would be negative. My older sister was the only one in my family who had breast cancer (At 39) and 11 years later after a mastectomy she’s healthy and fine. She was never tested. I should’ve known when the dr called me a week later that it wasn’t good news- “Allison, this is Dr Caron. I’m reviewing your test for the genetic mutation and your test was positive for the ATM gene mutation!” The rest is history.
I didn’t need to even think about what I wanted to do. I’d watched my sister battle breast cancer with chemo and radiation. She has a mastectomy reconstruction and is healthy today- 11 years later at 52. But she sure went through a rough time with treatment. I immediately had a telehealth (due to Covid) consult with a genetic doctor who told me my risk factor after going through my family history. My gene mutation was explained to me. I then set up an appointment with a breast surgeon at Brigham and Women’s. I met with her in August. I didn’t feel a connection. I then called Mass General and found a perfect connection with a breast surgeon I absolutely adored. The most supportive empathetic doctor ever- Dr Michell Gadd. Dr Gadd found me my plastic surgeon. I loved the trust I had in her from the beginning. I knew I wanted a mastectomy and now I knew I’d found both of the surgeons I needed.
I had my mastectomy in August. A routine MRI before surgery found a suspicious area in my left breast. I opted to forego the biopsy knowing I’d just have pathology done at mastectomy. My pathology showed atypical ductile hyperplasia- this is many times a precursor to DCIS. I felt incredibly lucky. Mammograms and ultrasounds had hid this area due to my dense breasts. My surgeon told me in a couple years my prophylactic mastectomy might not have been prophylactic.
I had expanders placed during my mastectomy. I had those placed under the muscle. There’s quite the debate between over the muscle and under. I was glad my surgeon specialized in both. As a runner- my surgeon decided under was better for me to give added support. I was in my expanders for 3 months. They were uncomfortable but now that I’m able to see my results well worth it. I recently had my exchange surgery to soft silicone implants. The silicone is made of material similar to a gummy bear- therefore leaks aren’t an issue I’m obsessed with the squishiness and how life like they seem to a real breast. I was not a candidate for breasts made of my own tissue because I lacked the proper body fat. I’m very happy with my results today having had implants placed.
This is quite a journey. But I’d do it again tomorrow. My risk was 45%. That jumped to 60% after my pathology report from my mastectomy showed atypical ductile hyperplasia. I’ve lowered my life time risk of breast cancer from 60%-3%. I feel like I took control. There are no guarantees in this life. But I can honestly say that if breast cancer ever did come for me and I was that 3%- I did everything in my power to be proactive and prevent it. I can live with that.
All my best-️Alli