Friday, February 05, 2010

Fake Out.

Negative. Negative all around. Elevated risk of ovarian cancer (5-7% lifetime) based on family history, but nothing like the mutation-level risks.

I guess this blog is defunct again. Oh well.


At 9:16 PM, February 05, 2010, Blogger electriclady said...

Big sigh of relief.

At 8:34 AM, February 07, 2010, Blogger persephone said...

Yeah, BRCA! Don't let the door hit you on the way out!!

And hey Robbie, maybe you'll find a *happy* reason to come back here...

At 4:29 PM, February 07, 2010, Blogger projgen said...

Woot! Woot! Never have I been so glad to hear a threat of a blog going defunct. I hope this news cuts a HUGE chunk of stress out of your life. Although, you have 3-year-olds, so the stress will come back in spades in another form. So I've been told ;)

Although, yeah - what 'Seph said.

At 5:09 PM, February 07, 2010, Blogger Lut C. said...

I'm so happy for you, a stroke of luck.
The whole process must have been so harrowing for you.

At 10:33 PM, February 08, 2010, Blogger Erin said...

So incredibly glad to hear that news! Whew. (But feel free to blog about whatever you'd like to blog about here...)

At 12:26 AM, August 22, 2010, Anonymous rene said...

Thank you for that good news!!

At 9:27 AM, March 21, 2013, Blogger Cameron VSJ said...


I have a quick question about your blog, would you mind emailing me when you get a chance?





Speak up!

Tuesday, February 02, 2010


Yesterday, a big manila envelope arrived in my mail.

I didn't check the mail, so I didn't even know of its existence until Ezra got home and brought the mail in. Somehow, I managed to get my kids to bed, finish up a project for work, and completely neglect to make dinner before ripping open the envelope open and poring over my mother's medical file.*

Armed with my mother's pathology report, a little Macallen 18, and a quickie MD from Google U, I came to the (shaky) conclusion that she probably had a BRCA1 mutation. Which is great, I guess, if I turn up negative, since then we can likely call it a true negative (though of course I'll still be nervous). Potentially not-great for my sister, who really shouldn't get tested this young anyway. And, duh, really sucky if I turn up positive.

The upshot of BRCA1-related ovarian cancer, you should know, is that apparently you live longer with the cancer. (Note: article is 13 years old.)

If I wait until I write out all the reasons I think my mom's cancer was BRCA-related, this'll never get posted, so instead I'll just leave you with a few more article links.
Clinical and Pathological Features of Ovarian Cancer in Women with Germ-Line Mutations of BRCA1, NEJM, 7 Nov 1996
Pathology of Ovarian Cancers in BRCA1 and BRCA2 Carriers, Clinical Cancer Research April 2004
BRCA1 and BRCA2 as ovarian cancer susceptibility genes, Carcinogenesis, May 2005

* Okay, her file as kept by her ob/gyn, covering only 1991 - 1994.


At 4:32 PM, February 02, 2010, Blogger Lut C. said...

I don't quite follow, but I'm glad another piece of the puzzel has arrived.
I can't imagine how hard this process is for you.

At 12:20 AM, August 22, 2010, Anonymous william said...

yes must be very hard


Speak up!

Friday, January 15, 2010

The Ripple Effect

Never ever ever underestimate the impact that a person can have on others, or the memories of even non-elephants, or the kindness that can come from the combination of the two.

The records person from my mom's gyn office called me back. "The name was kind of ringing a bell" and "I showed the file to Dr. Sweetness" and "Then I realized who you were and we were crying, oh you have no idea, but your mother touched us all so much!" She wanted permission to pass my phone number along to Dr. Sweetness ("she wants to call and chat") and insisted on not charging me the (pretty steep) copying fee for my mother's chart.

It was all just what I needed to hear while prepping Mom's feverish little namesake for a nap. Really. It brought tears to my eyes and I showered her with kisses while telling her that I hope she grows up to be as wonderful as the two women she is named for. Who very sweetly responded with: "Mommy? I just want to go straight for a nap."

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At 6:35 PM, January 16, 2010, Blogger persephone said...


At 7:05 PM, January 16, 2010, Blogger electriclady said...

Aw. So nice to hear something like that no matter how much time has passed.

At 2:55 PM, January 18, 2010, Blogger Lut C. said...

Wow, that's very moving.

At 4:27 PM, February 07, 2010, Blogger projgen said...

Wow, that is so cool. I was very close to my grandmother, and when she died, people came out of the woodwork to tell me how wonderful she was. I didn't know she had done *anything* for anyone else, other than some volunteering, so it was really special to hear how she affected other people. It's nice that you got to experience that.

And hey, at least the kid didn't fight you to nap :)

At 12:23 AM, August 22, 2010, Anonymous william said...



Speak up!

Wednesday, January 13, 2010

Red Tape and Calendrical Collisions

It took several phone calls, but finally the rudest person I spoke to* turned out to be the most helpful, and by the end of last week I had the requisite forms to request my mother's medical records. Of course one document needed to be notarized, so the kids and I had a fun 45 minutes or so waiting in the bank lobby for a notary public. I bribed them with ice cream. The kids, I mean - though perhaps if I'd brought a few extra cups along I'd have been in to see the notary sooner.

The fun catch here is that, since my mother's been dead for fifteen years, her records may not be so easy to locate. After I'd signed and mailed off the request to Hospital Records, I got a call back from her ob/gyn's office (the first place I'd called). "Well, we finally found her file. It had been purged from our office and was being stored off-site."

I'd already requested the pertinent information, but...the whole file? I'm no medical dummy, and I have quite a healthy sense of curiosity about me. Besides, as I told the nice records lady, "There's a lot of stuff in there I don't know. The sort of stuff adult daughters discuss with their mothers." I told her I'd need some time to think about whether I wanted to go ahead and request the whole file - there's the emotional aspect, and also the nifty per-page fee when a file is requested for personal use. But I've decided I'm going ahead with it, and now I'm just waiting for forms again.

My father's reports? A wee bit more challenging. I have to go through at least two layers of lawyers, and possibly a few other people, in order to get all the proper paperwork sent off to the hospital. I've provided as much information to my lawyer as I can - dates, physicians' names, whatever I know about the diagnoses - but I was a bit coy about my reason for requesting the records. " wants them. For...context for my own future medical care." I didn't want to communicate too much urgency, but now I'm worried that we'll still be in the "I'm trying to get a hold of this other lawyer" phase six months from now.

So, I'm hopeful that my mother's pathology reports, at least - and possibly my father's - will be in Nasiha's hands in time for my results appointment.

Which, conveniently, has been moved to a week later.

Back last summer, when I was scheduling these appointments, December 23 was the first available "non-urgent" pre-test counseling date available. Ho-hum, whatever, I can live with that. Then it turned out that the doctor who will be present at my results appointment (along with Nasiha) does said results appointments only on Friday afternoons. I don't know why, exactly, but I suspect the rationale behind this is to force people into a situation where they are not going to the appt and then rushing back to work, but rather have a weekend "off" to process the information.**

Thank you very much, but how about if you let me decide when the least stressful part of my week is? Friday afternoon in the winter is not exactly the most open time in my schedule, what with that whole Shabbat thing and all.

January 15, the earliest Friday when they could reasonably have my results (allowing for some end-of-December delays), had only a 3:30 appointment slot. No can do. January 22, as long-time readers will know, is my children's birthday. Not (potentially) sullying that day, and we'll have family in town. Won't do to come home to in-laws. I'll want quiet time to decompress and digest, no matter what the news. So we went with January 29, and I spent the intervening months talking myself into believing that everyone waits five weeks or more for this sort of thing, it's no big deal, whatever.

But it is a big deal.

And now I'm waiting more than five weeks, because a rare opportunity has popped up for the 29th, the sort of thing I can't reschedule and also do not want to sully (like my kids' birthday). The sort of thing that also will interfere with decompression. I felt like a madwoman calling Nasiha to reschedule for a later date, but once she heard my reason she concurred that this was the right move.

But she also said stuff like, "I can't give you your results over the phone," (I hadn't asked) and "We don't even open the envelopes with results until the day of each person's appointment." Great. So now not only did I tack an extra week onto my waiting, but I pretty much know the answer is just sitting there, so close by that I could walk over if I were so inclined. But no, I'll just twiddle my thumbs and pretend some lab tech halfway across the country is still fiddling with a few dozen knobs or whatever it is that they do. La la la, move along, nothing to see or do here.

At least the pathology reports will be there in time.

* It should be noted that everyone was generally polite; it's just that, relatively speaking, this woman was the least friendly. She also hung up on me mid-question.

**For the record, I find this infantilization really infuriating. I was at least as emotionally invested in pregnancy test results - hell, in nearly every type of test results - when we were undergoing fertility treatments, and that clinic had no problem delivering that news over the phone, via voicemail if requested. I'm thirty fucking years old, I think I can find out a little information about my genetic makeup without jumping off the nearest bridge.

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At 11:14 AM, January 14, 2010, Blogger persephone said...

Well, I think I'm glad you pushed it off another week, but... ARGH.

My bet is that they only do results appointments on Fridays for the doctor's convenience, rather than your psychological wellbeing. I've encountered this with lots of doctors - they only do surgery one day a week, etc. Maybe they're at more than one office throughout the week. Or maybe they don't mix different kinds of appointments well. Or maybe they want to get out early for the weekend.

But you're right, the infantilization is there anyway. Just the assumption that you MUST have counseling simultaneous with your results - for most people, I think they're right that it's best; but I can see wanting to be able to decide for myself.

At 2:32 PM, January 14, 2010, Blogger Robber Barren said...

The more I think about it, the more annoyed I am at the results + counseling appointment requirement. It would actually save me a lot of time and mental energy if I could get my results, give myself a few hours/days to freak out and calm down, and then go to a separate appointment for counseling and advice armed with specific, well-thought-out questions. Instead I have to prepare myself for four possible scenarios (mutation/no mutation, with/without my mother's path reports indicating a mutation), come up with all the possible questions for each of those scenarios, and process the results quickly enough to know what to ask without letting emotions get the best of me.

This is why I peed on a stick the day I had my first beta blood draw. If I didn't have that second line, I never would have thought to ask for the hcg number.

At 4:23 PM, January 14, 2010, Blogger Lut C. said...

For a minute there I thought you were talking about January 2011.

At 10:50 PM, January 16, 2010, Anonymous Teri S. said...

Hi there - just found your blog after you commented on mine. I started from the bottom and read up..thought I'd get to the top to find out if you were BRCA mutated like me, but I guess I have to wait along with you to find out. From start to finish it took 55 days for me to get my test results. Terrible..just waiting. And my doctor's office did tell me the results over the phone..and I didn't jump off a bridge, but I did sort of feel like I got pushed off of one. That was almost a year ago.. feeling much more empowered and confident about things now!


At 12:25 AM, August 22, 2010, Anonymous william said...

This is why I peed on a stick the day I had my first beta blood draw


Speak up!

Tuesday, January 05, 2010


I don't think I need to worry about my BRCA status. The sheer stress of trying to get my mother's medical records is going to kill me before the end of the month.


At 2:33 PM, January 05, 2010, Blogger projgen said...

Oy. There should be health insurance just for dealing with medical bureaucracy.

At 4:42 PM, January 05, 2010, Blogger Lut C. said...

Red tape, yuck!

At 12:35 AM, August 22, 2010, Anonymous annie said...

Red tape? lol


Speak up!

Monday, December 28, 2009

The Test

Shorter version: even though I'm high risk no matter what, I'm still a good candidate for testing. A positive result: (1) means we will be super-aggressive with preventive measures and screening, instead of merely aggressive; and (2) provides context for any future testing by my sister or my kids. A negative result does not put me in the clear, but it at least means that I do not have a known mutation that I may have passed along to my children.

My genetic! Excellent! Right. Nasiha ordered a two-part test on my little vial of blood. Given that the ovarian cancer was on the Ashkenazi Jewish side of my family, first the lab will analyze only the three Ashkenazi "hotspots" (two BRCA1 and one BRCA2), which account for something like 98% of the mutations found in the Ashkenazi population. If one of those areas has a known cancer-related mutation, that's the end of testing - POOF high risk is me. If all three areas are negative, the lab will continue with the comprehensive testing to make sure I do not have identifiable BRCA mutations elsewhere. (There's a decent chance my dad had a BRCA2 mutation to pass along.)

I asked whether it made sense to run the full test from the start, just to have more information. Nasiha said she has encountered exactly one person in the past seven years who had a BRCA1 and a BRCA2 mutation, and nobody with two BRCA1 mutations ("the fetus probably wouldn't make it in utero" - which, it occurred to me a few hours later, could explain my mother's multiple miscarriages). She also said it really doesn't matter - if I have a mutation, I'm treated as high-risk-with-BRCA-mutation. Period. End of story. No need for more embellishment. So that's why we're doing the two-tier test.

Oh! Oh! And they want my mother's pathology report. Possibly also my father's, but I'm focusing on my mom's first. I called her gyn's office, which yes I know is not the same as her oncologist, but they are all from the same hospital system and I'm hoping a single person can help me out with everything. Also I'm hoping the records person mentions my mother's name to her former gyn, and that it rings a bell, because I loved that doctor to bits. Anyway - I called and left a voicemail right away, which was two days before Christmas. So very surprised I haven't heard back yet. I may call again today, but is it even worth trying to do this before 2010?

Next up: what it means to be treated as high risk for breast cancer and ovarian cancer.


At 11:31 PM, December 30, 2009, Blogger persephone said...

Er... I'm familiar with the 2-stage testing procedure (I think it's as much a financial/probability game as anything else - most mutations tend to be found there, so let's start with those, if it doesn't pan out then we'll pay for the rest) and yet I'm still confused by some of the reasoning she gave you.

There are differences between how someone with a BRCA1 vs. BRCA2 mutation is treated, yes? We know they lead to different chances of breast vs. ovarian cancer, so I would think different courses of action might be recommended...??

Although I suppose this knowledge relates mainly to the 3 common mutations, which is what they will test you for no matter what; I have no idea what is known/unknown about less common mutations, or what difference it would make.

I'm sure you understand what she said better than I do, which is the main thing: I'm just wondering.

At 11:39 PM, January 03, 2010, Blogger Erin said...

Just got back into town and caught up on your blog. I was wondering how you were while I was gone. I know very little about the chances but I will certainly be hoping for the best possible outcome for this. It's definitely scary.

At 12:37 AM, August 22, 2010, Anonymous roy said...

I think there no difference between There are differences between how someone with a BRCA1 vs. BRCA2


Speak up!

Wednesday, December 23, 2009


Blood drawn. Details later.


At 12:38 AM, August 22, 2010, Anonymous al said...

Thank you for the info


Speak up!

Tuesday, December 22, 2009

Why Now?

I'm young. I'm 29 years old, to be precise, though 30 is not too far off. Some of the cancer risk calculators don't even account for subjects this young. My ob/gyn advised me a couple of years ago not to bother getting tested until I was certain I was done having kids, because it's not like we were going to take any serious measures (prophylactic surgery, tamoxifen) when I was also trying to get pregnant/pregnant/nursing.

Let me tell you about my friend "Rowena."

Rowena is just a few years older than I am. When Rowena was about ten years old, her mother died of breast cancer. Many years later, Rowena decided she wanted a little more certainty in her life, and so about a year ago she set herself up for some genetic counseling and testing. Turns out she has a BRCA1 mutation. The cancer risk people recommended a double mastectomy to reduce the breast cancer risk, and oral contraceptives to lower the ovarian cancer risk. "We scanned you and your opvaries are completely clean. We don't take ovaries out of women your age - the drawbacks outweigh the benefits. Let's talk about it again when you're over 40."

So Rowena got her boobs chopped off fairly soon thereafter. Four months later, she developed some odd abdominal pain. Shrugged it off for a day or two, and then went to the ER to rule out appendicitis. Nobody discovered anything to be concerned about. I could kick myself for not making the connection that I should have seen. A few weeks later, she had more abdominal twinges, pretty low down. Maybe a UTI? Doctor ordered a pelvic ultrasound. And then a CT scan.

Guess who had cancer in both her ovaries?

It wasn't yet at the "go get your affairs in order" stage, but this was no Stage 1A, either. Through some combination of excellent doctors, effective treatments, and a good dose of luck, Rowena beat back the cancer enough to turn up with a dwindlingly low CA-125 count and clean CT scan six months later.

This is what scared me into making my appointment. As these things go, Rowena was incredibly lucky. And she did everything right, following the advice of some of the best medical experts out there. But that bit about not worryign about ovarian cancer when you're young? I don't care so much what the statistics say; I know what my friend's reality is.

I know what it means to have your ovaries out at age 30. Increased lifetime risk of heart disease and osteoporosis. Surgical menopause, which is even crappier than the natural route. Definitely no benefit to your sex life. Oh, and no guarantee that you won't get ovarian-type cancer, just as there's no guarantee that a double mastectomy will prevent breast cancer. But the risk drops a whole awful lot.

I could stay on birth control for another decade, give those natural hormones from my ovaries a chance to do whatever good they can do. But I don't think I could look myself in the mirror if cancer rears its head even one day before my 40th birthday, and I didn't do whatever I could to stop it. I'm pretty sure the counselor tomorrow, and the doctor I'll see after I get my test results (if I get test results), will advise against oopherectomy at my age. They will probably have good reasons, and many statistics to back them up. Maybe they'll even change my mind, but it's going to take a lot to talk me out of this.

The emotional mind, the rational mind. Which wins? Which should?


At 1:22 AM, December 23, 2009, Anonymous Anonymous said...

It is indeed a dilemma. It is a war between the emotional and the rational mind. I liked your post.

This is Joshua from Israeli Uncensored News

At 3:47 PM, December 23, 2009, Blogger Lut C. said...

It's a tough decision to make, and I wish you all the strength in going through with it.

At 3:35 PM, December 26, 2009, Blogger projgen said...

I can't even imagine. Breast cancer has devastated my husband's family. His mother lost two sisters and her mother to it, and another sister was, thank God, successfully treated. Before there was readily available genetic testing, my MIL and 3 of her nieces - daughters of the two sisters who had died - all went for radical double mastectomies. The nieces were very young, not yet married and the doctors strongly advised against it.

Did they do the right thing? No one will ever know, I guess, but they've all gone on to get married to amazing me and have wonderful children. I think what they did was incredibly brave, and I honestly don't know what I would have been able to do in their position.

I'm sorry you're having to deal with this; I can't even imagine the weight of not knowing/knowing/knowing but not knowing.

At 1:06 AM, December 29, 2009, Blogger Abby said...

yeah, rachmana was diagnosed at 31 (and would have been diagnosed at 30 if anyone had been paying attention). statistics mean nothing when you're the one in that third standard deviation.

At 12:38 AM, August 22, 2010, Anonymous Mark said...

It is indeed a dilemma


Speak up!

Shrodinger Again

If you haven't been here in a while READ THIS FIRST and proceed with that post in mind. Thanks.



Appointment tomorrow. I haven't been getting much sleep. Those who know me IRL would not think that out of the ordinary at all, since I do some of my best work (and cooking) at 3 AM. And, yes, some of those sleepless nights could be attributed to deadlines and whatnot. But my mind's also been turning this cancer-risk thing over and over and over, looking for a trapdoor exit.

See, I'm afraid that they won't let me get tested.

Here's the reasoning: There are three (very general) possible genetic scenarios at play. Scenario 1: One or both parents have a BRCA mutation; I test positive for that mutation; I'm considered high-risk for the nasty sorts of rapidly advancing cancers that come with it. Scenario 2: One or both parents have a BRCA mutation; I test negative for that mutation; woo-hoo I've dodged the bullet and con probably be considered about normal-risk. Scenario 3: Neither parent had a known BRCA mutation; I test negative for known mutations; it is entirely possible that I inherited some other genetic predisposition to cancer nastiness and therefore I'm high-risk anyway.

If you clicked on the scenario links, you probably noticed that 2 and 3 led to the same question. And if you've been paying attention in class, you probably noticed that I have not said anything about whether my parents ever had any BRCA testing.

That's because they didn't.

My mom gets a pass on this one. She was diagnosed with ovarian cancer in 1993 and died in 1994. The BRCA1 mutation was not isolated until 1994, and its relatively high presence in the Ashkenazi Jewish population was not discovered (or made public, at least) until 1995 (also the year that BRCA2 was isolated).

My father probably also gets a pass, though a good doctor who was familiar with genetic cancer risk screening and had full knowledge of the family tree and medical history probably shoudl have suggested testing. Sister with breast cancer + pancreatic cancer as potential manifestation of BRCA2 mutation + two daughters who'd benefit from this information = probable screening recommendation. The problem is that my father was so secretive and cagey about, well, everything that I doubt there was ever any medical professional who actually knew all of those facts. And I don't think it ever would have occurred to my dad to consider testing; setting aside his overblown ego and machissmo, he probably had no idea about the pancreatic cancer/BRCA2 connection. I certainly didn't until a few months ago.

The cousin who helped me piece together our (paternal) family medical history does not know whether our aunt with breast cancer had BRCA screening, and it is unlikely that we will find out. I suspect she did not.

So it all boils down to two possible scenarios for me if I get tested. Positive? High risk for BRCA1- or BRCA2-specific nasty cancers. Negative? Considered high risk for ovarian, breast, and related cancers at least, because there could be some other genetic compenent and I have PCOS besides. I mean, sure, I guess I could be negative with two positive parents, dodging a major bullet, but we'll never know. So they may recommend against testing, but for some unidentifiable reason, that just makes me very nervous.

I don't know why. Shrodinger's cat is dead either way.


At 1:22 PM, December 22, 2009, Blogger Cegonha - Stork said...

This comment has been removed by a blog administrator.

At 2:32 PM, December 22, 2009, Anonymous Niecee Schonberger said...

I read your story and think you might like to know about Sharsheret, which is a national not-for-profit organization for Jewish women and their families facing breast or ovarian cancer. I’m a Genetic Counselor and Coordinator of Sharsheret’s Genetics for Life program. I speak to many women in situations similar to yours and I know they have been helped as they struggle with the same sorts of questions that you’ve expressed. I would really like the opportunity to speak with you over the phone and talk about your concerns. Please feel free to call me at (866-474-2774). We also have a blog at where you can find out more about our program and read some of the inspirational stories from the women of Sharsheret.

Niecee Schonberger, M.S., CGC

At 2:42 PM, December 22, 2009, Blogger Robber Barren said...

@Niecee - thanks for reaching out. I'm not looking for an additional counselor at this time, but maybe after tomorrow's appointment, after reuslts in January (if I get tested), or at some later date, I will be in touch.

At 11:08 PM, December 22, 2009, Blogger persephone said...

Ugh. You know most of this is not news to me, but the awfulness of the catch-22 hits me all over again.

I don't think anyone is going to not LET you get tested. (Except your insurance company, maybe? even they would probably have to concede that you qualify.) I do think they might argue against it. They might press you to articulate what exactly you would do differently if you got positive results vs. negative, given that you can't tell if the negative is a true one.

But "I just need to know" is a valid purpose, too. If that's what it comes down to, I think they would just want to make sure you're prepared for how disturbing both a positive & a negative result would be, each in its own way. Once you've been counseled, I don't see why anyone would stand in your way.

And even if it will make no practical difference for you, it could make a WORLD of difference for your kids. Right? An identified mutation would mean each of them could be free of this fear, if they tested negative for the same.

I doubt I'm telling you anything you don't know. Just wanted to register that I'm here listening, and I'm glad you're working your way through this no matter how scary it is.

Oh, and one more piece of info in case it helps: if your aunt's breast cancer was pre-menopausal, odds are much higher it was a BRCA mutation.

At 12:40 AM, August 22, 2010, Anonymous marie said...

Niice thank you Robber barren


Speak up!