How Did You Find It?! How Genetic Testing Saved My Life

Let me first say I am not a doctor nor do I pretend to have any medical authority. This is just my experience, my opinion, and my perspective.

“How did you find it?”

“Was there a lump?”

“Do you have a family history?”

I have been peppered with questions like these since I was diagnosed with breast cancer. Even the radiology teams and nursing folks all want to know, “You’re so young, how did you even have a mammogram?” or  “How did you get here?” Especially because, to the surprise of many, there was no lump.

In my opinion, this is why I was diagnosed with breast cancer at 31. It was to share my story because it is one that centers around prevention and I am so proud of that. I was never in danger of dying from breast cancer. That is a gift and I hope to share it with other women. This post is a little lengthy but it’s how I got here and I want to empower other people with the information they need to be their own advocate.

My dad’s sister, Nancy, was diagnosed with breast cancer at 26. She was given months to live and fought like hell, trying every drug and treatment out there so doctors could learn as much as they could from her illness. She lived for seven years. My parents named me for her (Kate Nancy) and I have always been tremendously proud of that - now more than ever.

Knowing that piece of my family history had prompted me to spend a little extra time with my doctors, asking them about the latest and greatest in prevention. When genetic testing became more mainstream, I asked my doctor (OB-GYN) at the time if I was a good candidate. It was the most frustrating experience. She was one of those who asked if you had any questions as she turned the doorknob to leave. She told me if I was asking about it then sure, I should move forward and ask the person at checkout to schedule an appointment. With that, she disappeared down the hall.

Genetic testing is a process that determines if you have a genetic mutation that predisposes you to different kinds of illness at a greater rate than the average person. It’s a serious process and I felt it deserved a serious conversation. So I found a new doctor.

My first visit with my new doc confirmed she was the best doctor for me. Prior to my annual exam, we chatted. We went through a multitude of topics and when I asked about genetic testing she scribbled furiously. She wanted to know why I was asking, how I would feel and/or react if I had a mutation, she needed detailed information on family history and then she gave me her professional opinion - I was a perfect candidate for testing.

This was the test they ran on me.

This was the test they ran on me.

When I left that appointment, I was armed with everything I needed to know about how this was going to go. From what I gathered through my process, determining who gets tested really boils down to whether your insurance will cover it. When my doc learned that the earliest diagnosis in my family was made at age 26, that was a big win. We had to document that to prove to my insurance provider this was indeed a worthy exploration.

The test itself was a piece of cake. Well it would have been for the average person but I work myself up over blood draws so of course it seemed intense to me. Honestly, it was a little scary though. This tiny vial of blood may tell you some things that aren’t so nice. Luke went with me and held my hand. It was August of 2014 and we had only been dating about six months at that point.

Then we waited. And waited. And waited. That part was terrible. My nerves were frayed. Obviously what’s there is already there but the unknown is scary. They tell you it will take about two weeks and that you will receive a call from Myriad BEFORE they run your test if the out-of-pocket cost to you will be more than $375.

I did not receive a call, they determined my history to be compelling enough to cover the bulk of the cost. However, I did later receive a bill for $16,000 and my doc had to refile all my family history information to ensure it was covered. I hear that happens a lot though so don’t let it shock you. I held fast to the fact that they never called! Final cost to me: $375. The BEST $375 I have EVER spent. EVER.

The call I did receive, beyond the two-week mark, was from my doctor. She got straight to the point. While I was BRCA negative, I was positive for an ATM mutation. BRCA is the one everyone discusses, and the only one I even knew about at the time, but ATM also indicates an increased risk of breast cancer. The good news? The increased risk is nowhere near that of BRCA. So we did a quick cheer for that and she charged on with next steps. She would send me to a breast specialist as well as a pancreatic specialist - ATM also elevates your risk for pancreatic cancer. Finally, she set me up with a genetic counselor.

Red Alert - the report was definitely a little scary.

Red Alert - the report was definitely a little scary.

I want to pause right here to explain that once I received this positive result, it opened up SO many doors to me in terms of preventative care that was covered by insurance. At that point, I was flagged as a risk so anything I did to prevent it from coming to fruition was covered by my insurance.

I was in all of the different doc’s offices within the next couple weeks. The pancreatic cancer specialist and I agreed that any preventative care would only be counterproductive since I didn’t even have a family history there and was so young. I do plan to follow up with him though.

"Women with ATM mutations have an increased risk for breast cancer, particularly at young ages." As you can see by the range, the increased risk is still uncertain.

"Women with ATM mutations have an increased risk for breast cancer, particularly at young ages." As you can see by the range, the increased risk is still uncertain.

The breast specialist was awesome. Like my OB-GYN, she got straight to the point, admitting they don’t know much about the ATM mutation but quickly telling me that she had a plan. She set me up with a mammogram in the coming weeks and discussed that I would see her annually, six months apart from my OB-GYN. They would work together to keep a close eye on me.

I passed that first mammogram, in the fall of 2014, with flying colors. My breast surgeon called to say everything looked great and that we would visit again in a year.

My appointments got a little off track and I called for an appointment with her at the start of 2016. She wanted me to have a 3D mammogram first and then to see her after that. That mammogram on March 11, 2016, changed my life. There was a change in my images from fall of 2014 to the images they took that day. They saw a cluster of tiny microcalcifications which led to more images then an ultrasound and ultimately a biopsy on March 24, the results of which officially diagnosed me with stage 0 breast cancer, DCIS, on April 1.

So that, my friends, is how we found my cancer at such an early stage. I will go more into the kind it was and why we still had to do a double mastectomy in a later post. I just wanted to really explain that if it hadn’t been for genetic testing, I would not have had a mammogram for another decade. If it changed this much in a year and a half, imagine how much different it could have been in another nine or so years. Genetic testing gave me the access to be proactive. I truly believe it saved my life.

To everyone who has been asking how I found it, what did I miss? What questions can I answer? Comment below or email me at bestofbugsy@gmail.com. 

Myriad report cover