Tuesday, August 2, 2011

Positive for a Deleterious Mutation...como say what?!

It's hard to know exactly where to start with a post like this. I guess maybe I'll start at the end and work my way backwards.

Last Friday I learned that I'm a carrier for the BRCA2 gene mutation. Actually, the official term is that I'm "positive for a deleterious mutation."

Since May, when we learned our mother was, surprisingly, a gene carrier, I knew this was a possibility. And of course my mind wandered there already. I went back and forth between thinking about how absolutely wonderful it'd be to get the news I wasn't a carrier and also getting anxious and nervous thinking how unfortunate it'd be if I were indeed a carrier.

But I have to tell you, hearing "It appears as if you do have the same mutation that runs in your family. You are a gene carrier" is so much harder to hear than even I could imagine. And I can be pretty imaginative!

On Friday I took a 5-hour bus ride from DC to NYC. I was then dumped onto the sidewalk outside a Starbucks near the intersection of 32nd Street & 7th Avenue and waited for nearly 30 minutes for my sisters to come and pick me up and bring me to New Jersey to spend the afternoon with them and my three nieces. But by the grace of some higher power, I was in the safety of my sister Meghan's car when I got the call from the genetic counselor.

I had played the scenario out in my head before. I thought getting the news wouldn't be so upsetting. Don't ask me why. Ignorance. Denial. Stupidity. Probably a combination of all of it.

But as I heard the tone in the Founding Mother of Genetic's voice, I knew where the conversation was going. I looked up at Kara and just sadly shook my head no (not to be confused with "No, I don't have the gene", but rather "No, not good news".) When I hung up from that call, I just put my head in my hands and started sobbing. Kara's hand went immediately to my leg, Meghan's to my arm. Quinn blissfully sleeping. We all just sat there crying, making physical contact, but not looking at one another for a good minute or two until my phone rang again.

Another call from an Unknown number.

Super quickly this thought flashed through my head. "Maybe she had the wrong results."

I knew it wasn't true. But see! I told you my mind sure can wander.

This call was from my doctor. Someone I just established a relationship with in early June when this whole process started. I had high hopes of finding a doctor in the Santa Monica area who was focused on offering friendly, helpful medical advice and was also interested in building long-term relationships with her patients- not to mention, good at what he/she does. Unfortunately, my experience was lacking during our first visit, but I was willing (at the time) to give her another chance.

She fumbled through the entire conversation and it was disastrous right from the very start when she said "Oh my god. That's so funny" in response to me telling her I just received a call minutes earlier from the genetic counselor. Meanwhile, I found nothing about any of this funny. And it just went downhill from there when she said:

"Oh. So you know there's a potential you have the gene?"
I said, "Well, Dr. Crandall didn't say there was a potential. She said I had the gene. So are you saying that I may not have the gene." (Meanwhile, dear readers. This is not a gray area. It's pretty f'n black and white. You either have the gene or you don't.)
"No. You do have the gene."

With that madness behind us, she reminded me that "this isn't a death sentence." Gee, thanks doc. Super reassuring. You couldn't have come up with anything better to say?

When I asked her for the phone number for the Revlon Breast Center (because she made it clear from the beginning that she wasn't the best person to support me through this process- which became more and more obvious the more she talked) she said "Ooooh. I don't have that. I'd have to Google it."

How I didn't hang up on her right then and there is a miracle to me. But I sat on the phone for another minute or two while she strained to provide any useful or helpful information regarding the ovarian cancer side of this equation and half-heatedly gave names of people I also had no confidence in based solely on the fact that they were coming from someone who I had zero faith in.

Kara, Meghan and I were all in equal amounts of shock and horror about the conversation and all unanimously agreed I wouldn't be returning to see this doctor again.

Sadly, this was pretty consistent with most of my experiences in dealing with UCLA.

When we first found out our mother was a carrier, I had no intention of being tested. I felt it wouldn't change how I lived my life and the information would only cause me unnecessary stress and anxiety. Why put myself through that. But a conversation between three of my sisters resulted in everyone deciding to be tested, including my twin, who was previously in my camp of not being tested. So, naturally, I gave in and decided to get tested.

But I lived in this blissful ignorant state of believing regardless of the results, it'd be fine. It wouldn't change that much in my life.

And then I got curious. I watched a documentary, In The Family, and realized that I hadn't thought of so many things I'd have to take into consideration with this. Yes, I knew that radical treatments would include a double mastectomy and a hysterectomy. I also knew this wasn't likely the path I wanted to go down. Steve and I haven't talked seriously about having children- mostly because I feel like I have a few years before I need to make a decision about that. But having this information certainly pushes those conversations and decisions up far sooner than I had anticipated on having them. And I guess more than anything with all of this, I feel resentful that something so joyous and happy as deciding to start a family is suddenly cloaked in all this fear, stress and anxiety.

My family and friends and co-workers have been wonderful. It's reinforced my positioning on where I place the importance in my life- family, friends, work. I am so fortunate to be surrounded by so many caring and loving people who are thinking of me, sending me love and offering to stand right beside me as I go through all of this.

Unfortunately, I don't have the best medical team in place to help me figure out my game plan- that much should be obvious from the snippets of the conversation I shared earlier. Although I've been in Los Angeles for nearly 10 years (next month), I haven't established a relationship with someone I'd feel comfortable going to. And my experiences with all things UCLA since I started out on this path waaaay back at the end of May has been incredibly frustrating and discouraging.

I go through long periods of being totally okay with this news. Of being able to mostly go on with my life with this knowledge in the background. But every now and again, I get hit with the reality that this information brings and I cry. Out of sadness, anxiety and an overwhelming sense of what the fuuuuuuuuuuuuuck. It's usually in the rare moments where I let things be quiet. Where I'm not working. Not running from one place to another. Not hanging out with friends or Steve or Katie.

I don't wonder "why me." What's the point? It is me. This is happening to me. And there's just no benefit in trying to question why I have this gene. I just do.

For now, I'm trying to just let all of this sink in and figure out what exactly this means and what I will do from here. It's a long path, but good lord am I so thankful that it's not a road I will be traveling alone.

Thank you to all of my amazing friends, family and co-workers who have reached out since I've shared this news. I feel incredibly grateful that I have such a strong support system and so many people who have offered to do whatever it is that I need.

The reality is I don't know what I need. I'm hopeful that in the next couple of days as I talk with a doctor today and go to a support group tomorrow, that I'll have more information and knowledge on what my next steps are. In the meantime, please know how much your love and good thoughts mean- I'll take it all.


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