Friday, May 1, 2015

TP53

Since last September, I have been working off-site at a client who happens to be located in Boston's Longwood Medical Area. This temporary change of work location has made getting to medical appointments and other meetings at Dana-Farber very convenient, if we forget this past winter, of course.

Yesterday after work, I set out for Ruggles station to catch my train home. I had a quick errand to do on the way so I left a few minutes early. (I had been in touch with Connie Britton's publicists begging her to autograph a "Hope is" sign for the book launch party and I needed to FedEx another package to them since they hadn't received the first or the second one I sent.) I dropped the package into the nearby FedEx box and made my way to Huntington Avenue.

Eager to check up on my dad who recently injured himself, I untangled my earphones and dialed Family on my phone. My mom gave me the update as I walked -- not great news for my dad but not tragically awful. I walked across a side street that emptied out onto Huntington and then, a few seconds later, I heard a loud SCREECH and a dreadfully loud BOOM. I turned around to see a red SUV flip and tumble onto its roof just feet from the sidewalk. In that split second, I instinctively thought something like, "Wow, that car flipped over so easily!" It was such a strange initial gut reaction.

Not a second later, adrenaline rushed and I ran over to the car, as did several other people in the vicinity. I could see the passenger suspended, clearly buckled in to his inverted seat. I immediately told my mom that I was fine, that there had been a terrible accident close by, that I had to go. I hung up and called 911 while a few good samaritans talked to the young male passenger and then began to try to help get him out of the mangled vehicle.

Within seconds of hanging up with the 911 operator, sirens sounded. I couldn't help but just back up and stare at the most surreal scene of the sidewalk I had just crossed. I felt like a ghost. I didn't want to look but I did, desperate to see where the driver had landed, as he wasn't suspended in a seatbelt like the passenger had been.

When I finally saw another person (who I think was the driver), I felt sick to my stomach. He was lying still on the floor of the SUV (i.e., the roof) in the back seat. There was nothing I could do -- nothing anyone could do -- as the sirens got closer and the police cars zoomed up the wrong side of Huntington Avenue.

I decided to continue on, stunned and shaken and completely helpless. I called my mom back to make sure she knew I was okay. Then I just kept walking, shocked, once again, by how vulnerable we all are as we crawl like babies around this crazy planet.

*   *   *

I wrote the prior paragraphs this morning. I have been working on the paragraphs below, however, all week; unable to make any progress on them not for lack of trying, but for lack of clarity in my own head. For some reason, however, the commute home yesterday made me want to, or perhaps need to finish what I had started.

*   *   *

When it comes to my cancer treatment, there are still a few things I'm yet to do -- "loose ends," if you will. The first one I'll probably leave undone forever. That would be completing the final step of my breast reconstruction process -- yes, nipples. I don't have them and while I figured that at some point I'd get them tattooed on, or stuck on, or whatever-ed on, I really don't care enough to make the time for whatever it would take to do that. I'm fine with the robotic look of my chest and the only other person that sees them doesn't seem to mind, either.

Another loose end, however, needs to be addressed. It involves genetic testing. 

Back in August 2012, I wrote a blog on this issue. I realized then and realize even more now that perhaps the scariest thought that cancer has induced in me is that I passed a genetic defect down to my children which could cause them to be at a high risk of cancer, perhaps even childhood cancers. I can barely type that sentence without tearing up.

When I met with Dr. Bunnell for my most recent six-month appointment, I asked him about genetic testing. I didn't remember exactly what I had done two years ago but I had heard something about genetic testing at a Patient and Family Advisory Council meeting and I wanted to get things straight.

Dr. Bunnell scrolled through my electronic health record (and scrolled and scrolled...) and finally reached a letter I had apparently received in August 2012. He printed it out and handed it to me. I don't have a single ounce of recollection of the letter, but given the Ativan I was sucking down at the time, I'm not surprised.

After some discussion, Dr. Bunnell recommended that I pursue further genetic testing. He explained that given how rare it is to develop my type of breast cancer at my age, it would be useful to check for genetic mutations that could lead to other types of cancer. If such mutations exist, I would get frequent screens (for example, colonoscopies) and maybe pursue further surgeries (including perhaps a hysterectomy). Fun stuff.

My appointment with the genetic counselor was scheduled for 8AM this past Monday. Brian and I drove in together, hit a ton of traffic, and were 20 minutes late. I almost started to cry on the way in but I couldn't tell if it was because I hate being late for important things, or because I was so anxious about the appointment, or because I was so sad that April vacation was over. It was probably a combination of all three, but I held it together.

The genetic counselor, Elaine, was excellent. She was the same person I had seen at the end of the very first day I visited Dana-Farber, but I didn't remember her in the slightest. Nevertheless, she was kind and clear and empathetic. She explained stuff about genes and about what they would look for if I pursued the possible testing. She answered my questions and didn't push me into anything. I appreciated that, and her, even if I couldn't find it in myself to look grateful.

The main issue we discussed at that appointment involved the "TP53" gene (often referred to as "P53"). According to the sheet Elaine printed out for us, "The TP53 gene is associated with Li-Fraumeni syndrome (LFS)." Basically, if they find an alteration in my TP53 gene, I have LFS, and that's not good.

The sheet explains, "Not everyone who has an altered gene will develop cancer." But a few lines later it reads, "Men and women with an altered TP53 gene have about a 90% chance of developing various forms of cancer, especially cancers of the soft tissue and bone (sarcomas), brain tumors, adrenocortical tumors, and acute leukemias." That emphasis around "about a 90%" was on the sheet -- I sure as hell didn't add it myself.

Later facts on the sheet are equally as terrifying -- "Women with an altered TP53 gene have a high risk of developing breast cancer, often at unusually young ages (prior to age 40) as compared to other women with breast cancer." Well that sucks.

What sucked even more was this -- "Both men and women carrying an alteration in the TP53 gene have a 50% (1 in 2) chance of passing it on to their children," and this, "In about 7-20% of people with LFS, the alteration in the TP53 gene is not inherited from their parents, but instead occurs as a new genetic change in that person." Well F*&K.

I burst out crying to Elaine when she brought up testing our kids if the results show I have an altered TP53 gene. I can't even fathom how awful that would be. I told her that Brian and I had decided not to get them tested even if I have LFS until there was something we could do to help them. Elaine explained that that time had come. She explained that the last few years have produced data showing that full-body MRIs for children with LFS can help detect cancer early and treat it more effectively. I couldn't even look at her after she said this. More tears.

A minute later, I got it together and told Elaine, "Let's do it."

She explained that if it's not the right time we didn't have to do it now.

"It's the right time," I told her, outwardly confident but inwardly terrified.

A short time later, they drew a vial of my blood, put a sticker on it, and sent it off to be tested. As I write this, I wonder if a lab somewhere has already begun to analyze my genetic code for defects.

*   *   *

Nowadays, I don't think too much about why I got cancer, just like I don't walk down the Boston sidewalk worried that a freak accident could flip an SUV on top of me. But every now and then, it happens -- a car flips or a paper about TP53 falls into my lap. And I stare -- scared, helpless, and uncomfortably grateful -- even though I really just want to look away. 

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