Genetic Lottery

Tonight the Mega Millions jackpot is $640 million.  In general, I think people who buy lots of lottery tickets are just suckers.  Although, it is hard to resist when the jackpot is this big.  The chances of winning the lottery are so low; to me, it never seems worth it to play. 
When I received my report from Myriad Genetic Laboratories indicating that I am positive for the 187delAG BRAC1 mutation, I read the fine print below the result.  The first thing that stuck out to me was an almost 90% chance of getting breast cancer.  So my standard line when telling people about this was, “If someone told me I had an almost 90% chance of winning the lottery, you bet your ass I’m going to buy some tickets.  So, if I have an almost 90% chance of getting breast cancer, I’m going to be lopping these puppies off.”

I think it’s about time I included some facts on here.  The genetic report says (prepare yourself for the scientific stuff, skip ahead after the next paragraph for my layman’s breakdown):

 “…studies in high-risk families indicate that deleterious mutations in BRCA1 may confer as much as an 87% risk of breast cancer and a 44% risk of ovarian cancer by age 70 in women (Lancet 343:692-695, 1994).  Mutations in BRCA1 have been reported to confer a 20% risk of a second breast cancer within five years of the first (Lancet 351:316-321, 1998), as well as a ten-fold increase in the risk of subsequent ovarian cancer (J Clin Oncol 16:2417-2425, 1998).  This mutation may also confer an increased (albeit low) risk of male breast cancer (Am J Hum Genet 62:676-689, 1998), as well as some other cancers.  Each first degree relative of this individual has a one-in-two chance of having this mutation.  If this individual is of Ashkenazi Jewish ancestry, it is recommended that follow-up testing of relatives of this individual include analysis for the mutations 187delAG, 5385insC, and 6174delT because of reports of coexistence of two high-frequency germline mutations in some Ashkenazi families (Ramus SJ etal, Nature Genetics 15:14-15, 1997).”

So basically what that text said to me was that I have:
– almost 90% chance of getting breast cancer
– 44% chance of getting ovarian cancer
– 20% chance of getting a 2nd breast cancer within 5 years of finding the first
– ten times as likely to get another ovarian cancer

It also said:
– the men in my family (if positive and so far we only know about my dad) have a low, but increased risk of male breast cancer
– there are risks of other cancers (I’ve heard colon, prostate, melanoma, etc.)
– since I’m Ashkenazi, everyone in my family should get tested

I may not have won the genetic lottery, but who has?  Some may argue Charlotte Casiraghi.  She’s 4th in line to the thrown of Monaco, she’s beautiful, has a fabulous fashion sense, is accomplished equestrian, the list goes on.  She’s got everything to be thankful for, genetically speaking, but who knows what life is really like for her?  She’s followed by paparazzi, she’ll never know if someone loves her for her or for her money, and she lost her father at age 4.  Tragedy has followed her family for decades.  Even when you think someone has won the genetic jackpot, there may be more than meets the eye. 

90210

For those of us in the GenX/GenY age groups, 90210 is an iconic zip code.  Who can hear those five numbers without picturing Jason Priestly pumping his fist twice as the opening credits roll?  Awesome!  Now I’m going to have their snazzy theme song stuck in my head for days. 
For this new generation of tweens, there’s a new 90210.  Same song, but with current issues.  I feel just old enough that I can’t relate to the show’s characters.  My husband’s “office wife” and one of my best friends both admitted to watching it so they could share some of the recent plot with me.  One of the young characters on the show is getting tested for the BRCA gene.  [a round of applause for the WB].  Thanks to my sister wife and my friend, I just watched a few episodes on Hulu (and by watch, I mean I fast forwarded until I found the pertinent parts).  They did a pretty good job of showcasing some of the potential emotions a person faces when deciding whether or not to get tested.  I haven’t yet seen the episode where the character finds out her results, but she really seemed to grapple with the decision of whether or not to be tested.  After she slid down a long, wavy slide at an outdoor music concert (not with a child on her lap like I frequently do), she laughed and then paused with a look of worry on her face.  Her male confidante said , “if you can’t enjoy life without knowing, then maybe you should take it.  I mean, knowing can’t be much worse than this, right?”
It’s a good point and a good question to ask yourself if you are a person who doesn’t know if you can handle or if you want to know the results of a genetic test.  Would your life be any fuller if you know the results?  Would you take action if you’re positive?  Would you constantly have this cartoon bubble with a question mark over your head if you didn’t find out?  Would it plague you?  Would you be comfortable just letting your fate happen if you chose not to get tested?
These are very personal questions and no one should judge anyone else’s answers.  I made my decision because I want to know.  I want to take action.  I don’t want to have an anxiety attack every time I get a mammogram or do a self-breast exam, just waiting to find a lump and wondering how fast it will spread or already has.  For me, that is worse than having to make the difficult decisions that accompany a positive result. 

Happiness is…

Happiness is ______. (fill in your blank)

Today, for me, happiness is my cancer-free sister.

I was talking to a very dear family friend who is so encouraging and supportive of everything I do. She is especially wonderful when it comes to my girls and now, this blog. She is always reassuring but has made me feel as if this space will actually help someone. That, after all, is part of my goal. Help someone, somewhere, somehow by sharing my experience. I was saddened to hear that her own sister’s battle with breast cancer is not going well. I didn’t know that her sister’s cancer had progressed as much as it had and I didn’t know it was found while she was breast feeding. Hearing this aspect of her story confirmed that the proposed timing of my double mastectomy is correct.
When my husband, my parents and I met with my breast surgeon, the goal was to find out if I should wait until after we try to have a third child or before. Would a pregnancy fuel a hormone receptive cancer if one existed or developed while I was pregnant? Would they be able to monitor me while pregnant and breast feeding? What would happen if they found something while I was pregnant? I think “maybe” was the answer to the first question but the answers to the other two sealed the deal for me. No, I could not have a mammogram while I was pregnant or breast feeding (I am even having to wait two months post weaning to have my first mammogram). And if they found something by palpating while I was pregnant? “disaster”. She needn’t say anything more. I was definitely having the surgery before the next kid. To play devil’s advocate, I asked what if I took the 9 month chance while pregnant and then just didn’t breast feed? Her response was, “then why keep the boobs?”. Good point.
My heart aches for my friend whose sister found her cancer while breast feeding. Moments after I left my friend today, my sister texted me that her pathology report was all clear and that she is now cancer free. I could not be more elated and relieved. I wish I could reverse the hands of time and have our dear friend get that same news. Isn’t that typical, to hear such a tragic story and then seconds later receive the best news? I hope for only good news for everyone I know, but that’s not realistic. I suppose all I can do is be there for my friend when she and her family need anything. Whether it’s an ear to listen, a shoulder to cry on, or a funny bone to tickle and distract, I hope she knows I am here for her. There will always be good times and bad but hopefully the good outweighs the bad. Today, for me, it definitely does.

High Anxiety

I don’t consider myself a very anxious person. But if I’m being really honest, I guess I am. I’m definitely a “Nervous Nelly” when it comes to my kids. I hate this about my parenting style. I can see it rubbing off on my older daughter as she stands at the top of a slide and hesitates, letting all the other kids go before her. That is totally my fault. I don’t necessarily want her to come barreling down the shoot like a torpedo, but there’s a happy medium. Like my positive BRCA result, I’m blaming this trait on genetics too. My nieces call my mom “Nervous Nana.” She has definitely done what she can to not put her fears on me. She encouraged me to take to the open road, driving on the highway while she prefers not to. There’s improvement in the generations. So by the transitive property, I’m hoping my girls will be even less anxious than I am.
I usually deal with my anxiety with avoidance. Let me be clear. Not denial, but avoidance. I don’t deny my fears but I do try to do things to not put myself in a position to be over-anxious. For example, I get totally stressed out taking my kids to a children’s museum during school break when I think there will be a ton of crazy rugrats running around being totally overstimulated. So I don’t go. I will take them later when I know it’s not busy. I’m avoiding the madness, but not the venue and stimulating environment altogether.
However, I’m not sure how to ease my uneasiness right now. I can’t go visit my sister post-surgery because it’s a 3 hour drive (total round trip) and I’m terrified of putting both my little ones in the car for that long by myself. On top of which, one of them has a cold so I don’t want to expose my sis to that either nor do I want to make my already uncomfortable child more uncomfortable. Although my husband is an incredible, involved and capable father, the thought of leaving him to juggle both girls for 7+ hours seems unfair. He works such long hours that he’s not used to taking both girls all day and he also needs down time on the weekend. He can do it and is on board with it so that I can see my sister but it means an anxiety filled day for both of us. But really, the main reason I’m feeling anxious right now is because I have no idea what she is going through. I wish I had gone first so I could guide her through this process. We are, as she put it to her surgeon, “knowledge people”. We would prefer to know exactly what to expect. Like an instruction manual for a double mastectomy.
I love instruction manuals. I have every manual for every appliance, kids toy and Ikea product we own. When I get a new cell phone, I read the manual cover to cover. It’s probably the enginerd in me. So where’s the manual for this journey? My sister and I would love to have it. Oh and while we’re at it, a parenting instruction manual would be much appreciated as well.

New bras

Today I bought new bras. Since I’m officially done breast feeding, my boobs are smaller and less full. The good part of that is the new bras look less like the granny bras my massive mams were suspended in before. I even had the option of a fancy blue and aqua colored lace contraption. I didn’t get it. I went with the more practical nudes. True to form, I’m more practical than pretty.
It occurred to me that these are probably the last bras I will buy for my current rack. I wonder what it will be like to wear bras post-surgery. I hadn’t exactly thought about the fact that I will be totally flat for a while.
I asked the manager of the store if they carried specialty bras for post-surgical patients. She has known my family for years and when I told her why I would need them she got a little misty-eyed. I always feel odd after I tell random people about this whole story. I never want them to feel pity or as if I’m telling them to get attention. That’s not the sort of attention I want. But I promised myself when I found out that I was positive that I wouldn’t keep this a secret. I want others to know so they know they have the option to protect themselves as well. As it turns out, her mother is about to be tested for the gene. She said she was nervous and doesn’t think she wants to know the results. She doesn’t want to get tested. For some, ignorance is bliss. It’s just not for me.

Destiny

It’s odd to say, but I’ve always thought I would get breast cancer. I have done the walk for breast cancer every year for the past 10 years. Whenever presented with an opportunity to donate to breast cancer research, I always do. I have been asking my mom to ask her mammographer for years about when I can have my first mammogram (the response was always at age 40)… until now.
At a young age, I knew that my grandmother had had breast cancer twice. She beat it both times, eventually with a double mastectomy. She was a therapist … a sex therapist. I have lots of stories about embarrassing, public, unsolicited sex ed sessions. Important lessons about not double bagging a condom, never keeping one in your wallet, but absolutely always putting a helmet on that soldier;  they were always conducted in a crowded restaurant for maximum humiliation. Sage advice, but maybe a little premature for a 9 year old girl. I’m pretty sure the intended audience was my brothers who were 14 and 17. I was just the wide-eyed innocent bystander. She did, however, have a lot of useful information when I chose the subject of my high school junior thesis paper: the psychological effects of a double mastectomy on breast cancer patients.  [play Twilight Zone theme song now] Little freaky, right? Not only did she give me a first hand experience to cite, but as a therapist, she had access to research that helped me.
Of course, lately, I’ve been thinking about what the psychological ramifications will be for me. Probably as a coping mechanism, I just tell myself I will cross that bridge when I get there. Will I still be comfortable undressing in front of my husband?  Will he still think I’m sexy?  Will I scare my kids when I undress in front of them?  How will I explain the scars to my little girls and why Mommy’s boobies look different than theirs?  I don’t know how to answer any of that yet.  But I am going to look for that paper, maybe my 16 year old self has something to share with my 30 year old self.

Good luck

What do you say when someone is about to have surgery? “Good luck” doesn’t seem to really cover it. You don’t exactly want to pour your heart out so the patient feels touched but scared that you feel the need. When I wrote a little note to my sister on the eve of her double mastectomy, I mixed positive thoughts with humor. She has the same sense of humor I do, so I figured this approach would work to lighten the load with laughter. Along with some encouraging words about the silver lining, I also wrote this:

I want to wish you good luck
As they take out the yuck.
You’ll feel light in the back,
And have a great rack.
Camisoles, sundresses and tops that are tubes,
Enjoy your beautiful, bouncy new boobs.

That seemed to cover it.