If you are in the U.S., the only place where you can legally get genetic testing for BRCA mutations is Myriad Genetics. Myriad owns the patents on the BRCA1 and BRCA2 genes. The current list cost of the comprehensive test is $3120 USD. (No idea if that includes taxes and other fees.) While some insurance companies will cover testing, not all do. No need to mention that many people in the U.S. do not have insurance.

Well, you would think that the cost of testing from Myriad has been going down as genetic research becomes more advanced and more automated. In fact, doctors say it has been going up. Check out the look on Myriad’s founder, Mark Skolnick, when he was asked about pricing in this video clip from In the Family:

How much cheaper would BRCA testing be if there was competition? Some researchers believed they could have developed a test to identify mutations in BRCA1 for as little as $10 USD… in 1999. Hmm… no wonder why Myriad’s founder looked so embarrassed.

Now if this isn’t bizarre enough: Complete Genomics is said to be offering the entire sequencing of a human genome for $4000. That means technically researchers could use this service not only find mutations in a person’s BRCA1/2 genes but also all other genes.

I am still trying to wrap my head around what a gene patent means and how Myriad, in particular, has applied their patents. I don’t want to rush to say that everything Myriad has done is wrong. But I find this pricing “discrepancy” to be something that warrants further discussion. There will definitely be more posts on this topic in the future.

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I just called the cancer agency today to follow up on my BRCA testing referral. Here in Canada, I need a doctor’s referral to the cancer agency for genetic counselling and testing. I just moved to Canada four months ago. So first I had to find a doctor, which everyone will tell you is very hard. Few family doctors are accepting new patients. I dug around on the Internet and found one who seemed to have good recommendations and accepting patients. So I made an appointment to discuss my two concerns: (1) BRCA testing (2) low-back pain.

Before going on, let me say that I don’t feel very confident in working with the health care system and talking to doctors. I grew up in the U.S. and never understood how health insurance worked. My mother had me covered under her insurance. I didn’t have any serious or chronic conditions so I was lucky enough not to have to visit the doctor that often. But after my mother’s insurance stopped covering me when I was an adult, I never thought to get my own. I adopted the attitude that doctors should be avoided as much as possible. I left the country and lived in western China for a year. No insurance but I didn’t worry about that since I knew I could at least afford basic care out of pocket (though I would be more worried about the quality of the care). I later moved to Hong Kong, and was introduced to the novel system of affordable public health care. I also got free health care through the university I studied and worked at. But I still have a very apprehensive attitude about doctors. I always doubt they pay attention to my specific situation. So, I usually use the Internet to diagnose and treat myself unless it’s really something I can’t do myself.

So anyways, I went to the doctors with papers in hand. I already found the referral form on the Internet (under the health care practitioners section!) and knew to bring my mother’s report. The doctor started the usual new patient routine of asking me about my personal medical history and family history. I never know how to answer those questions. How much detail do they need? On the family history question, I asked her what type of info she wanted and she listed off several diseases. I didn’t hear cancer so I said “Nope.” Then she jumped in to “So what about this back pain you just mentioned”? I said I actually wanted to talk first about genetic testing for cancer because of my family’s history of cancer. She was a little exasperated, “That’s what I just asked you and you said no.” I felt sheepish. When I told her I wanted genetic testing and needed a referral, she injected that she wasn’t sure who to refer to me yet. I pulled up my papers and explained that I already had the forms, the necessary report, and tried to point out the procedures. She took them with a cursory glance and started saying I should have given this to the receptionist to photocopy. I told her that these were already photocopies that I had made for her. So, she assured me that they would send in the papers and then returned to the back pain problem.

As I told the doctor the symptoms (pain for 6 months, brought about from sitting, no help from NSIDs or physical therapy), she was busily writing down a referral for X-rays and physical therapy. I was relieved to see her giving me an X-ray since I thought it’s about time I figure out what the root cause of this back pain. But I really wanted to mention to her the idea of screening for ovarian cancer too, “just in case.” I really doubt that cancer is the cause, but it sure wouldn’t hurt right? Still, I couldn’t bring myself to suggest the idea. (Do I just want to do it because I am scared about the BRCA test results?) I kinda wanted to believe that if she didn’t mention it herself, then it meant it wasn’t a possibility.

So that was end. I left without ever mentioned my worries over ovarian cancer and I thought to myself, “I really don’t understand how doctor appointment’s are supposed to go.” I felt so out of control during the appointment, despite the fact that I had spent a lot of time thinking about it beforehand. I felt frustrated that the doctor didn’t let me take the lead especially when it was clear that I was well-prepared. I understand that many patients are the opposite of me and want to have the doctor do everything (including making photocopies!). But that’s not me, I feel that I know best how to take care of myself. I go to doctors to help me figure out my problem. I’d never go to the doctor for something that I know that can be taken care of with home treatment. For silly things like referral forms, I don’t understand why I can’t just get a doctor’s signature and send them myself. I have a lot more faith in me getting it filled out right and sent right away then the overworked receptionist.

A week later I had to call the office to find out the results of the X-ray (no one called me). The receptionist said “The X-rays are normal” and nothing more. That’s it? Did someone besides the receptionist actually look at those X-rays? So now what? Do I do more physical therapy even though I have already tried that route and it didn’t help? The only thing I know that helps is to avoid sitting, but that’s not a practical solution if I am ever going to work in an office again! I am still chewing over this, not sure what to make of it.

Ok, so returning to today. I called the cancer agency today because I haven’t heard anything about my referral. The extension I had found for these questions lead to a voicemail. The person-in-charge is out of office for the next two weeks. So I called the main line and explained that I had a referral sent in but didn’t know what it’s status was. The receptionist said she would forward me to the appointment line to see if an appointment had been booked. (Does that make any sense? How could I have an appointment booked when I haven’t even talked to anyone about making an appointment?) The appointment line was a voicemail which told me to leave my name and chart number. I hung up because I knew I had no chart number.

Grrrr! How on earth is it that hard to deal with referrals in a timely matter? What do they consider as a normal processing time? A month? Two or three? I know that I still have to have a counselling appointment before they can even do the test. Who knows when appointments are being booked for? Couldn’t they just make an appointment right away even if it’s several months away? Did my doctor’s receptionist really send in the referral right away like they said they would? I am so frustrated with this system. I want more control over my health care. I don’t want to just be sitting here at home waiting for the phone to ring “someday.”

Found an article from last year’s U.S. News and World Report called BRCA Mutations Don’t Raise Breast Cancer Risk Equally. This was the topic of my post on Risk Diversity. Happy to see there is some mainstream news on it, but as the researcher quoted in the article notes:

“To some extent, people have traditionally perceived the risk as being a fixed thing,” Begg said. “People have studied BRCA1 and 2 separately, but, other than that, there’s the sense that if you’re a carrier, you have a certain risk, and it’s a high risk, and that’s it.”

Is the message getting out that our risks are diverse? And besides the difference of our mutations, it may also be because there are other genetic factors that we do not currently know about:

“Risk among carriers varies considerably, and, if you accept that that’s the case, there must be a reason why it varies, and the most plausible explanation is that there are other genetic factors affecting breast cancer risk that are being passed on through these families,” said study author Colin Begg, chairman of the department of epidemiology and biostatistics at Memorial Sloan-Kettering Cancer Center in New York City.

This is exactly what excited me about the last post on the cancer genomes. The research of the International Cancer Genome Consortium will hopefully lead to new breakthroughs in understanding what the other genetic factors affecting our risks are.

I’ve found myself spending hours on the internets looking at photos, information, personal stories, reading forums and blog posts from women who also have a BRCA mutation. It’s heartwrenchingly comforting to know I’m not the only one currently facing these impossibly hard decisions. I’m also picking up all kinds of new terminology (like cancer previvor- individuals who are survivors of a predisposition to cancer but who haven’t had the disease. Clever.)

Reactions from the few friends and family that I’ve shared the big news with so far has run the gamut from incredibly supportive to ‘did they really just say that’? It seems like that’s a pretty common experience; some people just don’t know what to say when they hear bad news. I first came across the following list on the blog: My Journey with BRCA2. She got the list from the blog Goodbye to Boobs. I’ve made a few minor edits, but what the original authors penned pretty accurately sums up the way I’ve been feeling (and some of the things I’ve been hearing), so much so that I felt I needed to share:

Top Ten Things Young Previvors (Probably) Don’t Want to Hear

10) But you’re so young!
Young women do get breast cancer, and young women with the breast cancer gene, especially, get breast cancer. In fact, recent studies suggest that women with BRCA mutations are getting sick an average of six years earlier than the previous generation. So we’re never too young to get breast cancer.

9) Well, if you get breast cancer, at least it’s curable.
This impression that breast cancer is somehow the “good cancer” to get befuddles me. Have we really sanitized the disease so much with all the pink ribbons and smiling bald ladies in ads that breast cancer has just become a woman’s right of passage? Breast cancer changes lives. And breast cancer ends lives. I’m not sure why we’ve forgotten (willfully ignored?) this inconvenient truth. And unless I missed the headlines, there still is no cure for cancer. What’s more, women with BRCA mutations who have had breast cancer have a 40% chance of recurrance and an elevated risk of developing second primary cancers. In other words, breast cancer isn’t like chicken pox, folks. You don’t get it once and are immune to it forever.

You’re removing healthy body parts that may never develop cancer. That’s crazy.
To you, maybe. But to me, it’s the opposite of crazy. It’s totally sane and rational. I have a nearly 90% chance of getting a disease I know I can prevent if I have this surgery. What’s crazier, getting it when you didn’t have to or not getting it because you had surgery? I’m going to go with what’s behind door number two, Monty.

7) So wait. If I was told I had the brain cancer gene, I’d have to remove my brain?
Are you sure you haven’t already? No. You would not remove your brain. Because you need it to live. I am removing my breasts because I can live (both figuratively and literally) without them.

6) That’s not what I would do.
You are free to think that, but I don’t want to hear it. Truthfully, you-imaginary-person-who-doesn’t-have-the-BRCA-mutation, I don’t really care what you would do. Because you don’t know what it feels like to be me. So zip it.

5) What if you have the surgery and then die of something else?
Well, that’s the point right? Not to die of breast cancer? I don’t know how long I’ve got, but I’d like to spend my time here without breast cancer.

4) Look on the bright side, you’re getting a free boob job!
Reconstruction does not equal a boob job, folks. Facing yourself in the mirror with new body parts is not a big love -in fest. My scars will be a constant and daily reminder of my BRCA status. My new breasts won’t feel sensation or react to stimuli. I won’t be able to breastfeed my children. My nipples will be tattooed on. Enough said.

3) I always hated my boobs. You’re lucky to be getting rid of them.
I know lots of women out there have vexed relationships with their bodies, and there are parts of mine that I hate. My boobs myself are not one of my favourite but they are mine. So, no, I’m not lucky to be getting rid of them. I’m lucky for the time I had with them.

2) You should do [insert healthy lifestyle choice].
I hear that helps prevent breast cancer.Well, if we knew how to prevent it, no one would get it, right? I hate to be so pessimistic, but, especially in women with BRCA mutations, all of this healthy-lifestyle-doing-yoga-drinking-green-tea-taking-vitamins seems like titling at windmills to me. But, I’ll play along. So, to prevent cancer I need to be healthy. But I already am. Healthy and concious diet? Check. Yoga? Check. Non-smoker? Check. I’m doing all I can here, folks. I’m staring down a 9 in 10 chance of getting breast cancer. I wonder really what difference it makes if I forgo that Diet Coke or glass of red wine.

1) Don’t do anything drastic yet. There will be a cure soon.
I sincerely hope you are right. And I sincerely hope that in five, ten, twenty years, prophylactic mastectomies for high-risk women will seem as draconian as blood letting. I have three girls who I have deeper hopes of choices then mine are right now.But I’m not going to stand around idly and wait for miraculous medical advances. I’m doing the best with the technology and understanding we currently have.

Top Ten Things Young Previvors (Probably) Want to Hear

10) Is there anything I can do? Do you need a ride anywhere? Wanna grab a drink?

9) I’ll be there for you.

Good for you for doing what’s right for you.

7) I don’t want you to get breast cancer, either.

6) I don’t know what it must feel like to be going through what you are going through, but I know it sucks.

5) Talk to me. I’m here to listen.

4) When you are recovering from surgery, I’ll come over and watch DVDs with you, wash your hair, and bring you junk food and wine.

3) You are brave.

2) You are strong.

1) You will still be beautiful.

I have referred to different risks for the different positions of BRCA2 mutations, but I haven’t explained where I got this idea. It’s comes from a 2004 study done by Polish, Canadian, and American researchers. The study looked at cancer cases in 440 families with BRCA2 mutations. It finds further evidence of the Ovarian Cancer Cluster Region: a region in the BRCA2 gene where mutations are associated with a higher rate of ovarian cancer. This area is roughly in the middle of the gene sequence between nucleotides 3035 to 6629. If that makes no sense to the BRCA+ reader, you might want to pull out the Myriad Lab report you have. The mutation type normally starts with three or four numbers in the beginning. These numbers indicate the nucleotide where the mutation starts, its position within the gene. The rest of the mutation type indicates whether it was an insertion (ins), deletion (del), or substitution (>) and its change.

So what’s the big deal about the Ovarian Cancer Cluster Region (OCCR)? Well, 51% of families with mutations in that region have a history of ovarian cancer. But for mutations before and after this region, only 29% and 34%, respectively, of families have a history of ovarian cancer. There is a tradeoff here too. Mutations in the OCCR are found to have nearly half the risk of breast cancer compared to mutations outside of the OCCR according to an earlier study by Thomson et al.

My family has a mutation before OCCR and the risk of ovarian cancer for BRCA2 mutations was quoted by Myriad as up to 27% (based on a study from 1998!). I find it interesting, however, that the Myriad report made no mention of the OCCR. It was first discussed in 1997 by Gayther et al., so the information has been around for a while. Did Myriad take the mutation position in account when giving out stats? Anyone else want to share the info or numbers they got from Myriad? Do genetic counsellors go through this type of more detailed information?

Where I first heard of BRCA, I had no idea that the risks were so individualized. Knowing nothing of genetics, I assumed one defective gene is same as another. But apparently that is not true at all. Now I am eager to get my hands on much risk information as possible. Aren’t any decisions that I need to make inevitably going to be motivated by statistics? But are BRCA mutation carriers getting all information they need and want (without having to search university research libraries themselves)?

Nearly every discussion on how to manage the risk for BRCA mutation carriers goes back to the preventive surgeries: mastectomy and oophorectomy. But while these surgeries are very effective for reducing risk, they are not without their own risks. Mastectomy can affect sexuality and body image. To me, these risks seem manageable. I feel they are highly dependent on the current role breasts play in my sexuality and how I feel about the mastectomy beforehand. On the other, the risks of oophorectomy scare me. I heard other people talking about this on FORCE before and I didn’t understand what they meant about “worried about effect on quality of life.” After reading some medical literature, I have a better appreciation of the risks involved.

According to Shuster’s extensive literature review, oophorectomy is associated with increased risk for:

• Overall mortality
• Cardiovascular disease
• Dementia
• Parkinson’s disease
• Depression and anxiety
• Osteoporosis
• Impaired sexual function

That is indeed a scary list. For me, one the scariest items is dementia. How would I feel about having successfully prevented early onset breast cancer but end up with early onset dementia instead? I can’t help but say right now: I’d prefer breast cancer than dementia. (What about “chemo brain” though? Hmmm….) Of course none of the other risks are appealing either. I know that osteoporosis, as dull as it sounds, is something I should be more concerned about. I am lactose-intolerant so I definitely don’t get much calcium from milk. (Am I ever going to seriously think about calcium supplements?) Oh, and what about “overall mortality”?? Doesn’t that one get right to the heart of the matter: are some women trading early death from breast cancer with early death from oophorectomy?

Well, despite all the risks of oophorectomy, doctors still consider that the breast cancer/ovarian cancer risk reduction outweighs its harmful risks for BRCA carriers. This is especially true for BRCA1 carriers who have a higher risk of ovarian cancer. But there is something else to consider here: at what age is oophorectomy worth it?

The risks of oophorectomy generally increase the younger the it is done. The cause for all this increase in risk is lack of estrogen. (But cutting off our source of estrogen is also what reduces the risk for breast cancer!) Estrogen pumping through us for most of our lives also protects us from all sorts of degenerative effects of aging. Cutting it off before our natural menopause is allows these types of degenerative effects to start earlier.

I spent the last couple hours searching for a study which discusses the optimal time for oophorectomy in BRCA mutation carriers and still haven’t found one. (Anyone else?) I found many studies which compared the negative effects of oophorectomy from ages 40 to 60, but none that talked about explicitly early cases. I get the sense this is uncharted territory. But I get the impression there are many BRCA carriers out there getting oophorectomy at ages earlier than 40. Surely someone’s monitoring them? Is there a position in the medical community about prophylactic oophorectomy in women younger than 40?

I still haven’t gone through the statistics of the increased harmful risks of oophorectomy. I am hoping to get an article dealing primarily with young women first. Because I’d like to see first-hand what are the difference in risks over time. Right now, I feel concerned over what information is available to young BRCA+ women. I know that the risks of BRCA1 and BRCA2 are different, and I know that even the risks between the mutation positions are different. Now, I better appreciate the long-term risks of the preventive surgery. (By the way, breasts produce estrogen too!) And I can see how complicated these issues are. It may seems over-anxious of me to be researching all this before I even have test results, but I feel that it’s going to take quite a bit of time before I fully understand all the issues I must consider. (Would I even reconsider getting tested with the more information I have?) I think I need this head-start!

Follow up to my previous post: I found a very nice response to inane comments directed at Lizzie Stark after coming publicly about her mastectomy. The writer of that response, Steph, also wrote another more general response to handling negative reactions from people about prophylactic mastectomy.

Actually the link I posted earlier was a later interview with Lizzie Stark. Her real news-generating interview was on MSNBC. The comments to that interview were even more prolific and inane than the previous story I linked to. WARNING: Don’t click that comment link if you’re feeling a bit sensitive. Lizzie was understandably surprised by the attacks but handled them very well in her follow-up response to the publicity. Reading these responses, I thought they were useful in showing me how to handle these “inane comments.”

By the way, is it possible to get news agencies to stop allowing public comments unless they rigorously moderate them? More than once, I have been dumb enough to keep scrolling past the end of a news article and get a glimpse of the latest comments. Finding a thoughtful or insightful comment on most of those forums is like finding a needle in the haystack.

Well, as I mentioned before, my favourite approach to handling these inane comments is to find humour in them. So I would like to add a few more to the list that I started the other day:

Inane comment types #4 and #5: “If you get cancer, it must be your fault” and “You are just taking the easy way out with amputation.”

It is a comforting thought to think that it is not my fault, its in the genes nothing I can do or could have done. Well the only person responsible for your health is you, the only way you can get better is if you do it, sorry its not easy, I’ve been there. In todays pill popping society if there is not a drug to “fix it” (drugs fix nothing) we take it out, cut it off, radiate it or chemo it.

Inane comment type #6: “Don’t put your trust in the math and medical science that has saves lives of countless people everyday, just trust my god and he’ll take care of you.”

Our problem is that our loyalty to science outweighs our loyalty to the creator and owner of the universe. It may sound didactic but with God all things are possible. You rip off the breast of a young girl because of 85% scientific calculation which does not even take care of the remaining 15%. … Concentrate and exercise your faith. Science place facts on the table; faith leads to the truth. God is able and God is in you. I am interested in this case and I know God is interested too. Let us disturb God about it and see if he is an unkind God.

Inane comment type #7: “I wasn’t paying attention to what you were saying because I am really worried about my self-calculated 0.2% chance of dying in a car accident.”

okay…I’m a male commenting… . BUT. as written, a 1 in 1000 chance is an odds that I’d consider carefully before a “pre-emptive”anything. After all, if you drive a car for 50 years, your odds in a car crash causing death is 1 in 500.

In my post about reconstruction, I didn’t get into the so-called controversy of prophylactic breast mastectomy (PBM). Well, after running across enough of comments from people who question a women’s decision to do PBM, I gotta vent some.

Here’s a common case: A woman decides to go public with her PBM to raise awareness of BRCA and breast cancer. The media puts out the story for public comment. A few people post some nicely thought out comments and many others post simply inane comments. Here’s a categorization of typical but real comments made to Lizzie Stark’s interview of why she did a PBM:

Inane comment type 1: Breast cancer in BRCA carriers can be avoided by simple lifestyle choices aka “genes don’t matter!”

It is heartbreaking to see someone take such a drastic step. There is a mistaken belief that if a gene runs in your family it is written in stone that you will become the victim of that affliction. It doesn’t have to be that way. There is so much a person can do to prevent such an event from occuring. There are excellent methods of detoxing and nourishing the body (ie juicing with organic vegetable juice is just one of the many approaches) which can help to prevent
negative outcomes. It is also important to realize that most of us inherit the lifestyle of our family, a lifestyle (ie diet, exercise) that could be contibuting to poor health. I encourage this woman to see a naturopath or holistic nutritionist to explore her options before making her decision.

Inane comment type 2: Medical science is a lie, and gurus with baseless theories of health (and selling them for big bucks) can cure whatever ails you.

Yes we may be geneticly pre-disposed to have a certain condition, however the mind and soul are very powerful things, as well as our body has a chemical balance which we can modify by diet. I have heard that Cancer Cells will not survive in and Alkaline evironment. I have also heard most of us in todays society have bodies that are more acid, than alkaline (this probably due to our modern diet) and understand how certain green foods can make us more alkaline.

Inane comment type 3: I can give you the best medical advice even though I am not a doctor and know nothing about health care policies.

Unless she lives in Canada where such devices are not available to Canadians she could have a once a year PT/CT scan which would detect any cancer at a very, very early stage – certainly years before it could ever be detected by a mamogram. Then if necessary deal with it. With such an early warning method available on practically a walk-in basis at a cost of maybe $2000 a year and with next day or same day results the gamble may be the better deal.

I believe there are many more inane comment types, but perhaps I can save them for another day when I need a good laugh. Or maybe readers can contribute some of their favourites.

But to be a bit more serious, hearing these inane comments from family and friends is not funny at all. In a study of how women make decisions about handling their increased risk from BRCA, I found this sad note about a women considering PBM:

When she shared information about [PBM] with her sisters and her mother, she said they were “shocked” that she would seriously consider such a “severe choice.” One sister stated that she had heard horror stories from women who had gone through this surgery. The participant concluded that if she decided to have [PBM], she would not be able to tell her family about her decision until after the surgery.

Why can’t family members just support one another? As if the decision and surgery isn’t hard enough to deal with already. I can understand there are valid concerns from family members that their loved one is making an informed decision. But there’s a big difference between checking in with someone and making an unsolicited judgment of a person’s character or decisions. The former is something like: “How are you feeling about this?” Comments like “Why in the world would you do something like that?!” would fall into the latter category.

Honestly, I haven’t talked to many people about my concerns with BRCA because of this exact problem. I got enough to think about already and I really don’t want to add to that stress hearing someone tell me that “you shouldn’t feel…” or “what you need to do…” I sure hope the women’s family eventually came around after the surgery. We all need some support in times like these.

So I forgot to mention on my previous article that the study assumes the low ends of the BRCA1/BRCA2 risk range in its simulations. Is this fair? Most of us facing the risk seem to just remember the high end. Ever since seeing the Myraid lab report of my mother’s, I have been thinking “nearly 90%” (it’s actually 84%). In fact, that is only the worse-possible risk found so far in the research. Others estimate a much lower risk.

A blog post on the New York Times reviews a study that suggest the risks for BRCA carriers are highly variable. First, the study founds the overall risk of cancer before 70 for BRCA carriers is lower than you might think: 36-52%. Furthermore, the difference in the risk is related to when your relatives were diagnosed. If they were younger than 35, the risk is on the higher end (52%) and if they were over 45 then the risk is on the lower end (36%). But like any studies, it has it’s drawbacks. The sample of BRCA positive women was rather small (n=73), so it may not generalize well to the whole population of carriers. [See JAMA for the full study]

Like all research I read, I immediately try to calculate if it’s good or bad news for me. Well, my immediate family members have all been diagnosed between 46-50 years old. So it should be good news, but I know there are other more distant family members with the same mutation who were diagnosed much earlier. Can I chalk that up to the unique genetics (besides the BRCA mutation) they had on that side of the family? Maybe they had mutations in other tumor suppressor genes? What are the effects of have BRCA mutations plus other high-risk mutations?

What about the specific effects of our family’s mutation? Since finding out about the Ovarian Cancer Cluster Region in BRCA2, I have been obsessed with getting more information on my family’s particular mutation. (Unfortunately, it relatively rare and I have already exhausted all of the major search engine links I could find.) We know that the risks of BRCA1 and BRCA2 are not the same, but do carriers know that even the position of their mutation within BRCA2 also changes their risks? More on this later…

A brand-spanking new research study to chew on while making decisions:

Survival Analysis of Cancer Risk Reduction Strategies for BRCA1/2 Mutation Carriers.

Kurian AW, Sigal BM, Plevritis SK.

PURPOSE: Women with BRCA1/2 mutations inherit high risks of breast and ovarian cancer; options to reduce cancer mortality include prophylactic surgery or breast screening, but their efficacy has never been empirically compared. We used decision analysis to simulate risk-reducing strategies in BRCA1/2 mutation carriers and to compare resulting survival probability and causes of death. METHODS: We developed a Monte Carlo model of breast screening with annual mammography plus magnetic resonance imaging (MRI) from ages 25 to 69 years, prophylactic mastectomy (PM) at various ages, and/or prophylactic oophorectomy (PO) at ages 40 or 50 years in 25-year-old BRCA1/2 mutation carriers. RESULTS: With no intervention, survival probability by age 70 is 53% for BRCA1 and 71% for BRCA2 mutation carriers. The most effective single intervention for BRCA1 mutation carriers is PO at age 40, yielding a 15% absolute survival gain; for BRCA2 mutation carriers, the most effective single intervention is PM, yielding a 7% survival gain if performed at age 40 years. The combination of PM and PO at age 40 improves survival more than any single intervention, yielding 24% survival gain for BRCA1 and 11% for BRCA2 mutation carriers. PM at age 25 instead of age 40 offers minimal incremental benefit (1% to 2%); substituting screening for PM yields a similarly minimal decrement in survival (2% to 3%). CONCLUSION: Although PM at age 25 plus PO at age 40 years maximizes survival probability, substituting mammography plus MRI screening for PM seems to offer comparable survival. These results may guide women with BRCA1/2 mutations in their choices between prophylactic surgery and breast screening.

One thing to keep in mind with this study is that it is a simulation and is not based on an actual population study. The reasons for this according to the authors is that it’s not feasible or ethical to create control groups of women with no intervention or screening-only. The numbers here are based on best available evidence of risks, but they still have to be taken with a grain of salt.

So the good news is that doing nothing (no preventive surgeries and no screening), 71% of BRCA2 carriers are calculated to live to 70. That helps me explain why so many of my relatives back on the BRCA side actually haven’t died young. Many were living well past 70 even in the 1700’s. You can compare that 71% survival rate to the 84% survival rate of the general female U.S. population. Looking at the stats this way definitely takes some of the fear out of dying young due to BRCA2. With a prophylactic oophorectomy (PO) and prophylactic mastectomy (PM), the overall survival rate to 70 for BRCA2 is 83%. Damn close to being like everyone else!

But where things get really interesting is when you look at the ages of the PO and PM. The earlier is not necessarily better. A PO at age 50 and PM at age 40 has the same survival as a PO at 40 and PM at 25: 83%! The study doesn’t even consider PO earlier than 40.

This study definitely helps lower my anxieties a bit. I was getting the impression from people’s stories that PM/PO is best done as soon as possible after testing positive. That isn’t necessarily the case for young healthy women: there may be no benefit or even possible harm in the case of PO.

I can’t choose whether or not I have this gene. I do. That is out of my hands. I’m not going to pretend like I’m feeling all warm and fuzzy and puppy dogs and rainbows about it.

It sucks.

I can’t choose whether or not I will get cancer. I can choose to remove my breasts and my ovaries as a preventative measure to significantly reduce those chances.

I choose to look at this knowledge as a blessing. I’ve had this gene mutation my whole life. That hasn’t changed. The only thing that has changed is that I know about it now. I would rather know than not know. Do I want to be shopping for surgeons to remove my breasts and fertility doctors to preserve my eggs so I have a chance at having biological children in the future? Of course I don’t. But I would certainly rather be making these choices, then to be making choices about cancer treatment. For that, I feel fortunate.

I refuse to ruminate on thoughts of ‘poor me’ or ‘why me’ or ‘this is so unfair’. They cross my mind. They do. Sometimes they linger. Sometimes they pitch tents and start making bonfires to roast some marshmallows. But what good would it do to let those thoughts take center stage? How would that serve me, my recovery, my future? How would being a victim benefit me?

I choose to look at this knowledge as a gift. A gift of life. A gift of choice.

How many women battling breast cancer right now would have gladly given their breasts to not have to be dealing with chemo and radiation? How many women with ovarian cancer would do the same? How many women will die of ovarian cancer, because their diagnosis comes too late? Tell me which of them wouldn’t have gladly had their ovaries removed if they had been given the choice. It’s a gift to have this knowledge in advance. To be able to take preventative measures, drastic and unpalatable though they may be.

That doesn’t mean I’m not scared. Or angry. Or sad. I am all of these.

I am overwhelmed.

I am also hopeful. And thankful.

I choose to focus on those thoughts over the next few months, as I meet with specialists and make decisions about removing my breasts. Removing my ovaries. Removing my ability to have children.

I will be 30 years old and breastless. Infertile. Menopausal.

I will be 30 years old and alive.

Healthy.

A gift.

Two weeks ago, I learned through genetic testing I am positive for a mutation in the BRCA2 gene. This mutation increases my risk of developing breast cancer to about 85%, and ovarian cancer to around 50%.

I think I received the news well, as far as things like that tend to go. Although I’m generally quite optimistic, I just had a feeling that those would be my results. So I wasn’t taken by surprise when the doctor gave me the news. I had already done some reasearch and I knew I wanted to have a prophylactic bilateral mastectomy with reconstruction; I was going to have my healthy breasts removed before they had a chance to develop cancer. It seemed like a no-brainer. I can’t imagine getting mammograms and MRI’s every six months- just waiting and wondering which time will be the one that I get the news. When I got home, I called to make an appointment with a breast surgeon to discuss the removal, and I scheduled consultations with plastic surgeons to discuss the reconstruction.

In researching the surgery and reconstruction options, I read dozens of women’s stories and looked at before and after photos of surgeries. Because I didn’t have a cancer diagnosis yet, I assumed I would have a nipple-sparing mastectomy with immediate reconstruction. I’d wake up from my surgery sore, but with newly rebuilt breasts with minimal scarring. It would be like an upgrade; my own original breasts- nipples and all- but perkier, and minus the stuff inside that’s going to try to kill me. Win! This whole experience is going to suck pretty hard, but if I get a fantastic pair of tits out of the deal, that’s a little bit of a silver lining, right? (Remember, I’m usually a silver-lining kind of gal). I picture myself lounging topless on exotic beaches, sipping pina coladas. I envision collecting lots of beads during Mardi Gras. I wonder if I can find a tasteful way to feature them on my Christmas Cards.

When I met with the breast surgeon, she explained that in cases like mine, she does a skin sparing -but not nipple sparing- mastectomy. I wasn’t prepared for that. She wants to be completely certain she isn’t leaving any tissue behind that could potentially turn cancerous. So the plastic surgeon will reconstruct my nipples and areolas a few months after the initial surgery, after my new breasts have had some time to heal and settle into position. They will tattoo the whole shebang an appropriately nipple-y color, and the fleshy mounds will instantly look more like breasts.

They’ll look more like breasts. Breast-like. The difference won’t be noticeable under a sweater.

Suddenly those visions of perfectly perky, scar-free fake boobs vanish. They’re replaced by visions of scalpels and bandages and red, angry scars. By the reality that I am losing my breasts. Love them or hate them (and I’ve done some of both), they are mine. A part of me. They are soft and warm and familiar. They react to cold and touch and pleasurable sensations. They have the ability to nourish a child. All of which are characteristics that are about to change.

I consider that perhaps I’m making a really big mistake. I’m exchanging my perfectly healthy breasts for…what? Something foreign and unknown. How will I feel when I stand naked in front of the mirror? Will I think I should have waited? I should have increased surveillance and waited to see what happened? I shouldn’t have been so quick to lop off parts of me I’ve identified so long with beauty, and womanhood, and femininity? How is this going to change who I am; how I feel about myself?

I come home from that appointment overwhelmed. I hadn’t considered not having nipples. I Google. I find images of reconstructed breasts after skin-sparing mastectomies. I look at photo after photo. I find some that aren’t bad. I keep looking. I see some breasts that are really well done, and that look pretty natural. I focus on those. I hold on to the thought that my new breasts can still look good. That reconstructed nipples aren’t the end of the world. I climb down off the ledge. I can do this.

I meet with the first plastic surgeon. He says the final result is never going to be as good as what nature gives us. He explains my options; he does implants and TRAM flaps. He prefers implants- it’s a shorter, less invasive surgery. I ask him about scarring and incision sites- he can’t tell me for sure where the incisions will be. I ask him about nipple reconstruction- he says many of his patients don’t bother having it done. They are happy being able to fill out a bra or bikini. He shows me before and after photos; the scars are numerous, and prevalent. I ask if my scars would look like that. He says it’s not up to him- it’s up to my breast surgeon. He does not show me a single photo of a post-surgery breast reconstruction that he’s done that looks like anything I can imagine myself being happy with.  I leave deflated and overwhelmed, wondering if my expectations are completely unrealistic and the only way I’m going to come out of this is with Frankenboobs.

I can’t accept that. My next plastic surgeon consult is in two days. I’m hoping this one goes better. If it doesn’t, I’ll meet with another surgeon, and another, and another, until I find one that is interested in helping me achieve the best results I can achieve under the circumstances. Someone who listens to what I want, who can tell me where my scars will be, and who can show me post-op photos that leave me encouraged rather than terrified. If I am going to do this, if I am going to choose to remove my healthy breasts in exchange for substantially decreasing my odds of getting breast cancer, I want more than just some fleshy mounds that can pass as breasts- from far away under clothing -in exchange. I want compassionate surgeons who understand that and feel the same way.

In the community of BRCA+ people, there has been a new word developed for people who have tested positive for a deleterious mutation but no history of cancer: previvor.  It’s purpose is to help give a label and acknowledge the similarities that carriers face with those who do have cancer.

I mean no offence to those who do use the word proudly, but I don’t like this word.  But, for me, at the stage I am in right now, it strikes a bitter note in me.  The moment I hear it, I inevitably fast-forward to “survivor.”  I know this word is supposed to be a word of empowerment.  A rejection of being a victim of disease.  But I don’t want to be a survivor, when that means getting cancer.  With all the fears I have right now, previvor sounds to me like “a person whose going to get cancer.”

I think of myself as a realist.  I know the risks that I am facing right now.  A 50% chance of being a carrier.  And up to a 87% chance of breast cancer and 27% chance of ovarian cancer if I am a carrier.  Although I may be so lucky not be a carrier, I am already thinking of myself as one.  I think it’s more practical to prepare myself somewhat, than to get blindsided.  In this scenario, the worse that could happen is that I find out that my risk is low.  But if I am a carrier, I know I would be taking significant proactive steps to do my best to prevent cancer.  And that’s what gets me about this word, previvor.  I don’t want to going through this stage of my life as “pre-cancer,” waiting for “post-cancer”.

The news of a BRCA mutation in my family has sent me on a rollar coaster of feelings lately.  My mother got tested as a result of her recent breast cancer diagnosis and our family history.  For us, a positive result is actually a good thing. Our risk of cancer has already been high because of the family history.  A positive actually helps us understand why we’ve had so many cancers in the family and gives hope to the younger generation to prevent it or possibly be relieved of the worry altogether.  I reminded myself several times that I should be wishing for a positive result.  But hearing it from my mom that day—”Yep, it’s positive” as she walked out for a smoke—still gave me a knot in my stomach.  Irrational as it might be, I didn’t want to think of us having “the breast cancer gene.”  Part of me somehow thought it might be better for mom this way: less chance of reoccurence, less agressive cancer types (can’t say that belief was backed up by any evidence).

I know that if I really want to make everything back to normal for myself, I should be wishing that I could go back to the minute before my mother told me she had breast cancer.  That minute when I was still laughing with her on the phone over the misadventures of my cat and my upcoming move back towards home after five years abroad which was only two weeks away.  That minute before she said the dreaded words, “I have something serious to talk about.”  Those next words I heard, put a huge lump in my throat.  I asked with my voice shaking, “Is it cancer, or it is…what do they call..ben—”  Before I could finish the question, my mom responded plainly: “Oh yes, it’s cancer.”

For next half hour she told me everything she knew up to that point and reassured me that she was taking it in stride, but I was struggling to stay on the phone.  I hung up, walked to the bathroom with my girlfriend following me worriedly.  Sat on the toilet and cried.

That moment, I do remember wishing everything that just happened to me and my mom could be erased.  I knew immediately that this news changed everything.  All my lingering doubts about moving back home vanished.  It was, indeed, the thought of being able to see her in just two weeks that made the news at least digestable. Suddenly the move was imbued with so much more meaning then ever before.  And I knew that it wasn’t just an unlucky year for us—with my grandmother being diagnosed with breast cancer a few months earlier.  That moment on the phone was the sound of the other shoe dropping, three and half years after my aunt passed away from metastasized breast cancer.

That moment was when I should have known that I couldn’t wish away the risk anymore.  But I guess that realization didn’t happen until I heard the test results “positive for deleterious mutation” three months later.  That was the day when I begin to stay up late at night reading research papers, message boards, and searching every permutation of our missing DNA sequence.  Since then I have been vacillating between quietly going on with my life and obsessively digging for all the information I can about this mutation.  The latter has been predominating for the last few days.  But sleeping at 3, 4, 5am isn’t going to help me.  I need to find a way to get back to living, not “previving.”  So I am christening this blog…”brca2blog”…to be a place where I can freely dump all these brca thoughts down and let go of these worries from my mind. And with that said, I’m going to sleep.

Jade Goody–the Big Brother reality television “star”-cum-cancer martyr–died the day before I started my own chemotherapy. I remember standing on the platform at the Royal Oak train station, waiting to go to the hospital for my first chemo treatment, looking at everybody’s greedily-grabbed copies of the Metro and the London Lite; even in the “real” papers, Jade Goody was the front-page news (alongside findings of a recently-published study, coincidence or no, about the non-improvement of cancer survival rates in the UK).

 I don’t know how large the storm surrounding this woman was in the American media, but in England she was as ubiquitous as Big Brother himself: first for the car-crash entertainment value of her all-around ignorance and repugnance, with the cherry-on-top of racist allegations–and then for the car-crash entertainment value of her stage 4 cervical cancer, and society’s ensuing Schadenfreude at observing her decline, glued to the television with eyes wide.

She made a mint out of that damn cancer, and, maybe even more sickeningly, seemingly won everybody’s sympathy from the media exploitation of her sickness –from her showstoppin’ Cancer Special, to her eight-weeks-to-live “fairy-tale” white(trash) wedding, to which she sold the rights to Ok! magazine for £700,000. (A  few months after Goody’s death, her previously-incarcerated Prince Charming was arrested yet again for an alleged sexual assault on a teenager. This may want to be excluded from the Disney version of the Jade Goody Story).

The debate raged as to whether Jade, being dumb as pig shit, was the victim of the media’s agressive manipulation of her, or whether Jade, being an unscrupulous media whore, was in fact the one doing the manipulating of her audiences. But whoever was pulling the strings, the result was the same–as her Guardian obituary put it:

The pig who deserved burning had become our sacrificial lamb, garnished with sentiment. Britain had turned 180 degrees to embrace a woman it had earlier scorned. Symbolically, at least, it was the right time for Goody to die.

–what someone on the BBC referred to, as I listened to Radio 4 while waiting for my chemo, as “the mythology of redemption.”

Goody was briefly praised posthumously for the awareness her death consquently raised over the cervical cancer screening policies in the UK–much like the new recommended mammography guidelines in the US, these policies try to eliminate the anxiety of abnormalities in younger women by beginning screening ( “invitation,” as they say) at 25, rather than 18 as is customary in the US (although new guidelines for young women are emerging for that too). Having had an abnormal pap smear at a young age, I admit it induces anxiety–especially when dealing with the Vassar Women’s Health Service (“Honey, I’m calling ya from my kitchen. I wanna talk to you about your pap smeah.”) But having also been diagnosed with cancer at a young age, I can safely say that dealing with cancer is worse than dealing with the anxiety of a false positive.

Yet more than creating a culture of awareness about cervical cancer, Jade Goody created a culture of fear and ignorance, for she was still treated as if the cervical cancer had just happened to her, had come upon her like the proverbial thief in the night–rather than as a slowly-escalating problem contributed to by her self-proclaimed fear of gynecologists and the irresponsible lifestyle which made her negligent about her own health.

And oh the kids, the kids! All that money she made: she was doin’ it fer the kidz. Jade Goody, the doting mother. Where was this devotion to her children when she chose to return to the public eye to go live in the Celebrity Big Brother house? The poor kids were a detail as unfortunate as the cancer itself, like HPV a side-effect of unprotected sex.  

You can rail all you want about the sanctity of human life, but symbolically or otherwise, the greatest good the woman did the world was to die–for its education perhaps, but mainly for its entertainment. And the “mythology of redemption,” dreamt up on television, remains our last & most pervasive mythology.

It is a mythology nicely coupled with the enduring romance between cancer and the media–which most often (like a lot of this previously raged-about breast cancer awareness month bullshit), rather than creating “awareness” about or “support” for cancer, reduces it so minutely into the abstract that all it actually does is make people afraid. As Germaine Greer writes in The Whole Woman, “Though women are terrorized by the constant evocation of the spectre of breast cancer, they are never put in possession of the facts.”

The continual and omnipresent televised cancer circus is the reason I’m uncomfortable about–not solidly opposed to, just uncomfortable about (though no matter how tentatively I say it, or how clearly I try to express myself, I suspect I’ll be witch-hunted for it)–this initiative for BRCA+ women to go on Oprah. Not because I think the women are poorly intentioned–far from it–but because the last thing I heard from Oprah was a promotion for her exclusive interview with the woman who was mauled by a chimp, with 911 audio as a teaser.

Why do you think this woman is worth $2.7 billion?

Because she’s selling you.

Maybe it doesn’t matter; maybe a well-intentioned act with favorable end results is a good deed (and I am not disputing the fact that BRCA publicity is precisely this) regardless of the avenues through which it is achieved, be it Big Brother or daytime talk TV.

And I don’t mean to place blame on the obscure and faceless entity Big Bad Media, because what it really comes down to is our collective appetite for disaster. And I “defend to the death your right to say it,” etc. We create and dispel our own spectres–and see, guilty creatures, the mirror held up to our sick and sorry natures on television. It’s “human interest”–and what we’re interested in is fear and death and ugliness, or lies and rainbows and redemption. The truth, the stuff in-between, doesn’t sell well.

Re: selling this “human interest,” I can’t help but think of the violation of the 3rd maxim of Kant’s categorical imperative:

“Act in such a way that you treat humanity, whether in your own person or in the person of any other, always at the same time as an end and never merely as a means to an end”–

and wonder to what extent women with cancer are truly used as a means to the media’s end of attempting to cater to this insatiable appetite.

And yes I’m well aware that a fine line’s being tread for me to say any of this at all. As far as my own blog, I swear my intentions are purer than Jade’s; it is not self-promotion for Ok! or Oprah. I began writing this blog after realizing the good that reading the other Emily’s and mainly Jeanne’s blog did me, and wanting to enter into the dialogue of a global problem. Before the ‘blogosphere,’ the only other women with cancer I “knew” were the ones whose glossy photos appeared in “Coping with Cancer” pamphlets supplied by the hospital, the ones who were quoted as saying things like oh, cancer can be fun, you finally get to wear that crazy hat you always dreamed of. But after reading these blogs and others, the “spectre of breast cancer” as it existed in the abstract, embodied by these Cookie Cutter Cancer women with their small blessings and their stupid hats, began to fade like King Hamlet on the cock’s crow. I realized not all women with breast cancer were rah-rah-glory-of-god-dough-eyed-dumb-as-dirt-pink-ribbon-shitheads.

And I felt, I suppose, Horatio’s impetus to address this breast cancer spectre:

(Thou art a scholar; speak to it).

The more I think about Horatio’s (futile) speech to the Ghost in Act I Scene I of Hamlet, the more I find Greer’s spectre-metaphor enticingly apt to my own experience of cancer.

–

Re-enter Ghost

HORATIO:

I’ll cross it, though it blast me. Stay, illusion!
If thou hast any sound, or use of voice,
Speak to me:
If there be any good thing to be done
That may do ease and grace to me,
Speak to me

Cock crows

& I do NOT have a BRCA mutation.

Which is, yes, good news. Who wants to take me out for a martini? But my sense of emotional relief is tempered by the rational knowledge that this relief is largely artificial and unfounded, since I’ve already had f-ing cancer, and could die from it still.  And there’s no certain explanation for it now; cancer being genetic & all, not having the BRCA mutation likely means there’s some other genetic malfunction in me that hasn’t been discovered (and patented) yet.

I am taking the same course of action in light of these results as I promised myself I would if I tested positive: ie, doing nothing. But do feel blessedly exempt from that pressure of BRCA-scaremongering into preventative surgery.

I really wonder whether there is something defunct with my primal sense of self-preservation. I’d probably feel differently about preventative surgeries if I had children, or a life’s work, or anything else to live for. But I thought about it as I lay in bed this morning, hitting the snooze button over and over, and came to the same old conclusion: how presumptuous it seemed to act as if my life was really all that important–and how pointless it seemed to go through such great pains to prolong it.

Which is why I am dreading my upcoming mammogram, and why I have not called for the results of the CT scan I had six weeks ago. If I have cancer, still or again, I don’t want to know. I don’t want any more treatment. It’s terror and desperation, exhaustion and depression. But I can’t sustain myself on any of that, and I don’t want to.

(I am eligible to be tested for Li-Fraumeni syndrome, but would have to pay $3,000 for the privilege. And really, there’s not much point in knowing anyway, since there’s nothing anyone can do but wait for you to get brain tumors and leukemia and all the rest.)

I’m still obviously at risk for a new breast cancer on the left side, or for a recurrence/metastasis of the primary cancer. But I realized the full implication of the negative test result about twenty miles from the hospital, and burst into tears in the middle of traffic on I-79: as far as I know, I’m at no greater risk for ovarian cancer than the rest of the general population.

And I thought of all the women walking around with their ovaries inside of them, not even thinking about it, certainly not shedding tears of joy on the interstate over it, and felt strange–but strangely elated.  Even if I can never have children, there is something psychologically comforting about keeping those bits where they belong–and not having to defend to the death my decision to do so.

Then on NPR, an interview with Vic Chesnutt, & this rather incredible song:

Vic Chesnutt – Flirted With You All My Life

which he described as a “breakup” with death & the temptation of suicide.

Bizarre how Fate sometimes supplies a soundtrack.

Oh death, oh death
Really, I’m not ready

I met with the genetic counselor yesterday–which had me imagining she would sit my DNA down in an upholstered chair, a box of tissues beside it, and try to coax it to talk about its childhood while she sat nodding, notebook on knee.

I mean, just look at this chick’s anemic little gene. She needs to eat some spinach, or something, and punch those carcinogens in the face.

Conjunction junction, what’s yr fun-ction?

Instead she talked about the BRCA mutation and Li-Fraumeni syndrome – which I had never heard of before (I thought she was saying ‘Leefah Ramini syndrome’), and which sucks a big one, holy shit; I kind of wish I didn’t know that things like this exist.

She drew up a chart of my family history, which looks like this, wherein the squares are men, the circles women, the black dots cancer and the X’s deaths. Some from cancer, others from heart disease and suicide and drug overdoses long before cancer could have caught up with them. In short, I don’t know much about my family. I only knew one of my grandparents, and barely; the others didn’t survive out of their forties. My longest-living  relatives were/are in their early 60s.

Also, there are mainly squares in there, so as far as breast and ovarian cancer goes, it’s hard to say.

Still, it’s strange to see people reduced to a geometrical map, crossed out with a callous pencil scratch, black dots like small deaths. I sat thinking of Mendel’s pea plants and the genetic traits surveys we did in eighth grade (when I discovered I have one bent thumb and one straight; even then I knew I was a freak), wondering what genetic death wish sat inside me.

Here’s a big surprise: my ‘insurance’ doesn’t cover the three thousand dollar test.

Three. Thousand. Dollars.

But here’s a big surprise, without a trace of sarcasm: the good people of UPMC are picking up the tab with research grant money. To express my gratitude, I let them take five additional vials of blood and peed in a cup for them.

The results–which have a 7% chance of coming back “indeterminate”–come in three weeks. My blood’s being sent out to Utah as we speak. There is only one lab in the country that performs these tests, she told me, because they have a patent on the genes.

A patent on the genes. BRCAnalysis®.

Yeah, I did a Scooby-Doo double when she said that. Arrrrr?

I’m not the only one who consideres this “illegal and unconstitutional,” as the ACLU has taken them to court over it.

According to the lawsuit, Myriad’s “monopolistic control” over its BRCA genes hampers clinical diagnosis, serves as a disincentive for research, and allows the company to charge upwards of $3,000 for testing that many women cannot afford. As a result of these practices, “patients whose tests come back with inconclusive results do not have the option to seek additional testing elsewhere,” the ACLU charges.

You think?

No matter what the results are, right now they’re solely for my own information. I’m keeping my left breast and my ovaries, and all the other bits, for the time being. Maybe that seems like I don’t set my life at a pin’s fee. Maybe I don’t, really. All I know is, I need to catch my breath.*

*When I first typed that, I wrote, “I need to catch my breast.”

Dear God. Maybe I need the upholstered chair and tissue box after all.

I just sat down to do some work tonight and was distracted by the federal government’s latest announcement.  It seems that a task force has decided that women should wait until age 50 to get mammograms and it’s only necessary to get them every 2 years.  They go on to say that breast self-exams do no good and women should not be taught to do them.  I am outraged and furious at this latest advice. Earlier this month, I spoke to 3 women over the course of 3 days all in their thirties with a recent breast cancer diagnosis.  And nearly every day, I hear of another young woman beginning a breast cancer fight. 

Sure the guidelines are different for women with a family history or a genetic mutation but what about those of us that discovered a mutation only after we were diagnosed?  I think everyone can agree that mammograms are not perfect but we need to find a better tool for screening younger women before we take away the one tool that actually works.  And why debate breast self-exams and breast exams performed by doctors.  A breast self-exam ultimately led to my diagnosis.  Where would I be two and a half years later if I hadn’t discovered the tiny lump in my breast?  Does the federal government care or are they just worried about increased costs of biopsies?  Share your thoughts?  We need to be advocates for our own health and make sure we are not negatively impacted by this latest advice.

Wow! I opened an innocuous, slim envelope from my insurance company yesterday-an Explanation of Benefits or EOB. My DNA test from September to discern whether I have the  (Breast Cancer) BRCA mutations is covered in full! No more funds out of pocket! (search under DNA or GINA for previous posts)

I could have been liable for up to $350, and the blood test bill was  $3120. After a provider “adjustment”, the insurance company will pay them $2964.00.

No deductible, no co-insurance, only the two co-pays for the office visits of $40.

If you are going to have a system that keeps cancer patients alive long enough to be survivors, then these follow-up procedures should be covered (with appropriate privacy for the patient) in order to practice further early detection and possibly even prevention.

I waited eleven years for this test.

Relief is spelled GINA!

So yea blog hasn’t really been on my mind and tonight as I was sitting at the computer I realized I haven’t updated my blog in a long time!!

So school is going well. I just finished the 1st quarter. It was a good 1st quarter I would say. It had its ups and downs but I love going to BRCA! I love seeing everyone everyday and also the teachers there are amazing.

The kids are growing up so fast. Otto is 5 1/2 months old. He started eating whole foods (well mushed up a lot). But he is rolling around like a wild man and he kicks like a little ninja!! It sometimes even hurts.

This weekend the summer staffers are all coming in for LSD for teens conference. For any of you who think it’s a conference about the drug it’s not. It’s love, sex and dating for teens. It’s an amazing talk. It opened my eyes to things I wouldn’t think of.

So today at school during last period me and a friend went outside to take some pictures for class. Then after we took the ones we needed I felt like doing a couple cartwheels….

…. so then it turned into Schneider (my friend) doing them… I took these really fun shots. One of them was an accident but hey sometimes those are the coolest pictures.

Mid air…

Here is the accident one. He was landing it…

I had my very first request for content from one of my readers!  The fact that I even have “readers” made me ecstatic to begin with, so of course, I’m going to fulfill this young man’s request, especially because it’s a really good one.  He is a man who’s girlfriend recently found out about her BRCA mutation, and he wants to know how to move forward and support her and what the implications are for their relationship.  Read on…

When I first found out about my BRCA status, an extremely callous doctor said something horrific to me.  He told me to go out and find a guy to marry me and to have kids quick so that I could get my breasts and ovaries removed as soon as possible.  He didn’t, however, offer me up any willing and able bachelors to whom I could say, “Hi, I’m Lisa.  You’re cute and I need to have babies fast because I’m probably going to get cancer.  So will you marry me??” You can read more about this experience in a piece I did for the FORCE newsletter here: http://www.facingourrisk.org/newsletter/2008spring/voices.html

After this experience, I was completely scarred.  Because this idiot planted the seed in my mind, I was sure that no one would want me.  And the worst part was,  I didn’t think they SHOULD want me.  I remember thinking “Well if I were a guy, I don’t know if I’d be able to deal with that if a girl told me.” Or “I’m asking for so much- how can I expect any guy to handle this when he could just have a normal girl?”  I thought that I should walk through life wearing a warning label in order to be fair to those who may decide to love me.

I now realize that that entire link of thinking is completely wacky, and I’ll tell you about what happened instead of the above scenario.

A little over two years ago, I met up with an old friend who I had dated for a brief period in high school.  In the course of one night, I fell madly in love with him.  All of my precautions and worries and everything else went out the window. I knew that no matter what, I wanted to be with him.  Luckily enough, he felt the same way.  In the beginning of our relationship, I avoided the “mutation” talk.  However, this guy had known me my entire life.  He knew that I lost both my mother and aunt to cancer, and he knew I volunteered for FORCE.  What he didn’t know were the statistics.

So after a few months, when I really knew for sure that it was for real and we were going to dive into something bigger than ourselves, I told him everything. Through a haze of tears and awkward pauses I let it all flood out- statistics, surgeries, emotions- everything laid out.  And I gave him an out.  I said “It’s ok if you can’t deal with this. I will understand.”  In a way, I was being honest.  I wouldn’t blame him for walking away, especially because I do not want to spend my life with someone who cannot handle the seriously heavy things that every couple at some point must encounter.

After I had told him everything, he looked dazed.  I looked at him expectantly and he said something like, “Well, this is much worse than I thought.  But I didn’t know you could do something about it.  So good- you’ll just do something about it.”  He was referring to me having a prophylactic mastectomy.

I couldn’t believe how amazing he was.  Of course, your girlfriend having her breasts removed is not the ideal situation, but he assured me that the most important thing was that I LIVE, and that, in reality, is the bottom line.

We have low moments, where I worry he won’t think I’m beautiful anymore. He won’t think I’m sexy.  I’ll get sick and leave him all alone.  It is not an easy thing by any means, and I constantly struggle with what I will look like after the surgery and how both of us will feel about my body.  But he assures me that whatever happens, what matters is that we’re in it together, and really, that’s the bottom line.

Three important things to remember:

1. You have to be supportive of her in whatever she decides to do.  You may not always understand or agree, but you have to trust that she is doing what she feels is best.

2. Reconstruction these days is often AWESOME.  If your girlfriend is thinking about surgery, her boobs will most likely look really good when it’s all over.  No, they won’t look the same- but the scars will fade in time, and no matter how old she gets, they will NEVER sag. J

3. Having a BRCA mutation is NOT a death sentence AND many people have genetic mutations and simply don’t know.  If you ditch your girl for a more “normal” one, chances are she’s got something that runs in her family that they just aren’t aware of.  Or, maybe she’ll get hit by a bus tomorrow…you just don’t know, so why make decisions based on what “might” happen?

In reality, there are times when my boyfriend and I are both scared, but life is full of scary situations, big decisions and a constant effort to make the most out of the little time we have.  If you’re anything like me, you’ll figure out that the best way to do that is to grab onto love and hold tight, if you’re lucky enough to find it.  Once you do that, whatever happens, when it comes to it, you’ll do what you have to do.

It’s the economy, stupid! Well… now for me… it’s also the mutated genes. I am currently in the middle of a hard decision, and BRCA is NOT helping.

My boyfriend has accepted a transfer to his company’s DC office, but we currently live in Philadelphia. I’m happy for him, and want to follow him, but I’m not sure whether I should quit my job, move with him, and look for a job in DC, or stay here, look for jobs, and not move until I secure employment there. The first option seems most practical to me, as it would be so much easier to look for jobs full-time and actually be in the city where i’ll be networking and interviewing (not to mention we now share an apartment and only have one of everything). But… I’m worried about being out of work for a while. And consequently I am worried about not having affordable health insurance for a while.

I need an MRI. I need a breast doctor. I need a gynecologist. I need peace of mind that if I find a lump in my breast, I can call up a doctor and get an appointment without paying an arm and a leg (or a boob). If I didn’t have BRCA, I wouldn’t really care about going without health insurance for 5 to 6 months. But I don’t have that luxury. I’d be playing with fire, and I don’t want to get burnt.

Le sigh. BRCA cranks up the inconvenience level a little bit in this whole situation. Of course the nearly 10% unemployment rate doesn’t help, either. Anyone want to give me a job in DC?

I’ve been talking awhile now about my fast approaching PBM – the DIEP that I’m having on January 12, 2010. For some reason saying ‘in January’ still made it seem far away. When I wrote yesterday’s blog entry instead of saying ‘in January’ I said ‘in a little over two’ months. Wording it that way made me realize how close it is – two months! I have no doubt that I’m going to be thinking and therefore blogging about this a lot more frequently in the next two months. I’ve already spent a lot of time explaining WHY I’m doing what I’m doing, so why not explain WHAT it is that I’m doing….

These days there are many different reconstruction options available to women who have mastectomies. When I first started learning about BRCA mutations, preventative surgeries and reconstruction, I was overwhelmed with all of the choices available. After a lot of research and thought I finally decided that the DIEP flap was the best option for me.

PBM = Prophylactic Bilateral Mastectomy – Prophylactic refers to the preventative aspect of the surgery. When a woman has her breasts removed BEFORE they have cancer then it is a PBM. PBM is NOT a specific reconstruction type; it’s the surgical removal of healthy breasts – bilateral means both breasts, also known as a double mastectomy.

DIEP = Deep Inferior Epigastric Perforator Flap. This is one of many reconstruction options available. It’s a highly technical and difficult surgery to perform and not just any doctor can do it. The DIEP can be used as immediate or delayed reconstruction. In my case I’ll be having a PBM with an immediate DIEP reconstruction. I will never have the experience of waking up and looking down to see no breasts on my chest (if you knew how much this image haunted me when I first learned of my BRCA mutated status, you’d know what a relief this is to me). When I wake up from surgery it will be with reconstructed breasts – though they won’t be picture perfect yet and will still need some work and revision surgery about 12 weeks later, which means even more time needed for recovery.

The DIEP uses fatty tissue and skin from the abdomen to reconstruct. The stomach area is cut from one end to the other leaving one hell of a scar – about twice the size of a c-section scar. Fat is scooped out as well as a subcutaneous layer of skin. Subcutaneous means ‘just under the skin.’ Small blood vessels are removed with this skin and then attached to blood vessels in the breast area (this is why the term ‘flap’ is used) after the mastectomy – that’s the part that makes it microsurgery – it’s all so small that the surgeons need to use a microscope to see what they’re doing. Tricky stuff! The end result of my stomach area will be much the same as if I had a tummy tuck. No stomach muscles are cut with the DIEP. That means that the muscle integrity in the stomach isn’t compromised. It’s also less healing to worry about. That’s a good thing.

Nipple reconstruction is optional and I’m still leaning toward not having this done at all. I’ll save that subject for another entry.

The mastectomy requires an incision from the lower portion of the breast (either directly under the nipple or to the outer sides of it) – and as much of the breast and fatty tissue that can be removed, gets removed.

This surgery will require 5-8 hours (if all goes well) of being under anesthesia and involves a lot of slicing, scraping, precise removal of tissue and skin, attaching and stitching – it’s going to be quite a recovery process! Drains are placed in each new breast and in each side of the stomach. These have to stay in for 2-5 days, and from what I’ve heard, they are more of a nuisance than anything.

There are a few advantages of having a flap procedure for reconstruction versus expanders/implants. While the recovery is harder at the beginning (more of the body needs to heal), overall it’s over sooner than those who go the implant route – which takes many months of weekly or bi-weekly fills, stretching the skin out enough for the implants and then a final exchange surgery.

With the DIEP my breasts will grow or shrink with me as I lose or gain weight. Another advantage to having a flap reconstruction over implants is that I won’t have to worry about capsular contracture – my body won’t reject its own fat.

Of the multitude of reconstruction options out there, each one has advantages and disadvantages and who gets what kind should be based on the individual. Different women have different needs/wants.

I’ll be having this procedure done at The Center for Restorative Breast Surgery in New Orleans, LA. If you’re curious about what the end result will look like here is a link to the center I’ll be going to, and what their work looks like. Be aware that clicking this link will take you to pictures of naked women. Not Playboy naked, but before and after pictures of real life women who have reconstructed breasts after a mastectomy. When you first click on the link it’ll show you a picture of a woman who had the DIEP. The smaller thumbnails below show pictures of a multitude of flap procedures (GAP, SIEA, etc).

It’s truly wonderful what this center does for women like me. I’ll have my breasts removed and reconstructed to look very much like the real thing. Honestly, my body will probably end up looking better afterwards than it does right now. On the downside, I’ll more than likely lose all feeling in my chest and my stomach may become permanently numb. As positive as I’m trying to keep all of this, I can’t fool myself for long by thinking ‘Yay, tummy tuck and boob job!’ – it’s really not that simple. My stomach and breast area will lose most, if not all, sensations. I could bump into a wall with my chest and not even realize I did it. I wonder what it will be like when I hug my family, or when I’m intimate with my husband.

I’ve talked to others who’ve gone through this already and from what I’ve been told, it’s a weird thing, to have no feeling in these parts of the body, but it’s something you get used to over time.

I’ll let you know…