Trust from dizzying heights

Greetings from 7,000 feet.  It is beautiful today and Brent and I are on our way to NYC, courtesy of Angel Flight.  I cannot say enough how blessed we are to have this kind of help.  We are going to change planes in Williamsport rather than in University Park, so that another patient can get a ride home.  It is amazing to me, the coordinated generosity of so many pilots.   

With this bit of time, I thought that I might tell you about my plans.  I met with my OB on Thursday to talk about surgery.  He is putting in for pre approval from my insurance company, which I am hopeful will go through. (Although, if it doesn't, I have programmed my case manager's phone number into my phone...I have someone on the inside who might help me with the appeals process if need be). If denied, I will appeal.

I really, really like my OB, who delivered Lauren and Livvy.  I actually have a piece that I wrote some time ago, that I will post later about picking doctors.  I feel like I have to run it by both Drs. OB and and Ortho before I do, as I refer to them by name, and out of deep respect, would like their permission before I post it. But I digress.  

My point is, that I would really, really, really like to use my OB for the surgery...it would be our last hurrah together, as I will have no parts left for him to annually check when it is done.  I trust him, and well, he is my guy for such things.  Should insurance deny coverage, I would need to have surgery at UH, where incidentally, my guy does not have privileges.  I would have to use someone else.

Because, given that the Ramers are sort of the goose who laid the golden egg for UH, I would be in a better position to work out something financially with them for of all things, removing my eggs.  If I didn't have irony and snark, you might as well cut out my tongue as well, because I would have nothing left to say.  You have been warned...this is going downhill from here.

So, if I get my wish and have the surgery at Southwest, which is affiliated with UH, but not in fact owned by them, I will need to get my girl parts shipped across town.  Last time that I needed to do something like this (who ever needs to do something like this?!!) Dr. Peters, my kids oncologist, was kind enough to drive across town with a box of dry ice and swing by FEDEX on his way back to UH, sending one biopsy off to Toronto.  How's that for service above and beyond the call of duty?

As my local geneticist is taking the lead on this one, having developed an essay that will detect our p53 mutation to within 2%, international shipping will not required this time, thankfully. So, I need a local medical currier...which we are thinking might end up being Dan.  "Honey, can you pick up the dry cleaning, and drop off my ovaries?"  Seriously, who makes arrangements for the transport of their own organs, outside of their body?  

I need to be sure to get a doctors note for my dear husband, in the off chance that he gets pulled over.  (I know more than a couple of doctors...which one is the best for such a thing?)  Because "What is in the box?"  could be a very awkward question to answer, when it is in fact, pieces of your wife.  Probably should rework the phrasing of that answer.

In case you missed the memo, I have a weird life.

So, the actual surgery...  You will remember that I was looking to have multiple biopsies done.  I went in to this talk with my OB with a particular idea...kind of a buffet or smorgasbord of my organs...take a little sample of each while you are in the neighborhood.  So, after a little geography lesson...there is sort of the continental divide in you belly (diaphragm) which makes loads of things out of easy reach if you happen to be doing a pelvic surgery.  Damn. 

But, there is the liver and spleen in the area (ooh, goodie!). However, given their vascular nature, they have the tendency to bleed ...and not stop.  I was advised that this was a very bad idea. Usually, such biopsies are done with CT guidance, which is a bit more than 'just taking a bit while in the neighborhood.' 

I have said that I would never presume to tell a pilot how to fly or a surgeon how to cut. (Writing of a surgeon as sit next to a pilot)  While I really am committed to finding some answers, I am not wanton.  I do in fact listen.   I may be crazy, but I am not stupid.   But I was bitterly disappointed, nonetheless.  

Bowels will be biopsied by GI in a separate procedure, the details of which I will be sure to keep to myself, and for which you will thank me, heartily.

Which leaves my tubes and uterus.  

"Are you planning on having more children?"

Umm.. No.  (Thinking, I would remind you that you are taking out my ovaries....and we talked about this you when you tied my tubes several years ago)

With extreme patience, and a hint of irony, "Do you plan on carrying a child for someone else?" (In my spare time?  with my spare energy?  With my 44 year old parts and sketchy genetics hovering around in the background?  Not likely.)

At which point he explained that really the only thing that my uterus could bring to me in the future was cervical or uterine cancer.  He could biopsy them, but really, it makes infinite sense to remove them.   

Dan will need a bigger box.

As I left to schedule it, an opening was available for Thursday.  As in this Thursday.  I feel odd, having been anxious and prepared to do this surgery for 6 months now, but Brent is doing hyperbaric oxygen treatments every day....and this would be the day after we return from New York.  Seems like a lot, and so waiting until the next slot in June makes more sense.  We go in June at this point.

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Flight number two...chatting with our pilot, I learn that he is from Maryland and works for NIH.  I kid you not.  We exchange IRB stories, naturally.  

The weather has changed dramatically, and we fly in solid clouds, which I have never done before.   I think that he said to within 800 feet of the ground, which he preferred was much higher, naturally.  I had no idea, sitting next to him, how disorienting it could be.  You must completely rely on your instruments, as instinct will help you not at all.  I have no doubt as to how JFK Jr got into trouble, because what you feel and what the instruments tell you do not jibe.  If you are accustomed to following your instincts, this sort of flying is a recipe for disaster.  

I am trusting in the experience of this pilot.  I trust the experience of my doctor, and of the doctors that we are traveling to New York to see.  Hoping that we all get on the ground soon...and safely.

Angelina Jolie and LFS

Angelina Jolie made all kinds of news yesterday.  I am not a tabloid reader, and I have been far too busy this week to do more than a mad dash into the grocery store, where I otherwise might have stumbled across the latest Hollywood gossip while waiting in line.  

But even I, in my nearly Amish status, am aware that she had a double mastectomy, and breast reconstruction. (My FB page is littered with breast specialists and geneticists, representing every hospital and cancer organization that I am "friends" with...and there are many.  They are all talking about it.) She announced this fact in the Op Ed section of the NY Times, giving details of her family history, her genetics, and the surgical options that she selected, understanding the implications of the former two.

In my world, which has been electronically expanded to include folks with LFS from all over the world, such a drastic and radical decision is not that unusual.  I am acquainted online with many women who, given their family history, devastated by breast cancer, and their LFS status, have taken the same aggressive and strong preventative position that she has. Many more among them are contemplating this same measure. I applaud them all. It is fierce, and beautiful, regardless of common ideas about beauty and femininity. 

Angelina Jolie has a genetic predisposition to ovarian cancer (which her mother suffered with) as well as breast cancer. A  BRCA 1 mutation will significantly increase the likelihood of her developing breast cancer, somewhere between 54 and 87% over the general population, as I understand it (especially in rare disorders, numbers and studies vary, kind of a lot) and ovarian cancer between 40 and 50%.  These are some giant, scary numbers put in front of anyone. Even if you look only at the low end of that risk, it is significant.  Losing her mother to ovarian cancer makes this information much less theoretical. Given her personal experience with it, I suspect that there were some sleepless nights involved for this poor woman.

There was something in Ms. Jolie's statement that I read, that suggested to me that the double mastectomy was perhaps not the end of her medical to do list, but rather, just the beginning. She 'started' with the higher risk and more complex surgery, which sounds to me like an oophorectomy might be next, to take care of the ovarian risk.  I would love for her to get in line, right behind me.

I have very recently had my research approved by the IRB, to determine the extent of the mosaicism of the p53 mutation (LFS) in my body. It is known that the mutation is at least in my ovaries, and as they have completed their usefulness (I have four children and am over 40) I believe that it is time that they go, before they go bad, go rogue, misbehave...pick your favorite cancer euphemism.

Then, by this research, we can begin to learn if my risk is limited to germ cells or if I have a global risk.  This is an important bit of information, not just some idle curiosity about my innards. I need know if I should be screening, like my children are. It sort of matters. A lot.

I do not want to, in any way, minimize the seriousness of a BRCA mutation, but LFS is like BRCA...on crack. While LFS carries a similar elevated risk for breast cancer, we also face increased risk of brain, lung, adrenal, colon, bone...every cancer out there is fair game...every cancer out there is our game, and the odds are higher for us to play in every single one of them.  The female LFS carrier has a 90% chance of developing cancer by 60... Ninety percent.  

Stew in that for a minute.

The difference with LFS is that there are few risk reducing measures to be taken.  While BRCA patients can choose to live without breasts or ovaries in order to reduce cancer risk, (again, not minimizing the difficulty in arriving at such decision, or in taking such measures) but for LFS, bones and brain cannot be eliminated proactively.  My kids have parted with a bit of both, but that, naturally, comes after the oncological fact.  We scan, and we screen.  We do what we can to catch it early, our experience being that a small cancer is more easily managed than giant throbbing tumors (And we have had both).

So, aside from the red carpet, the international humanitarian missions, the galas, and waking up to Brad Pitt every day, Angelina really isn't so different from me.  (Ok, that is snarky). But in truth, if you peel away all of that, which really doesn't matter to me (except for the humanitarian stuff), she is a woman who knows that the genetic odds are not treating her kindly, and she really wants to be there for her 6 kids.  She is willing to go to some extraordinary lengths to take care of herself, so she can do just that. I believe that I can relate to this.

And also, I am sure, because she is a smart woman who has surrounded herself with some smart doctors, she is thinking about whether to test some of her children. Certainly, her love for them does not take into account biology...half of her children are adopted, I believe.  But while her love is blind to personal genetics, in this case, the biology does in fact matter.

And I can certainly attest to the angst that comes with wondering if you unknowingly gave your child the crappiest gift ever...and wondering if should you find out?  And what would you do about it, once you did find out? My prayer for her, or anyone who decides to test their children, is that they have the reassurance of a negative result.  Because, a positive one brings other difficult decisions...many of them.  And worries.

But also, as Angelina Jolie publicly proclaimed and demonstrated, some power. And that power to act, to decide, even when the choices are tough, that is the blessing we have in this day and age.

I return to that 90% number for ladies with LFS...and what we might do to make Lauren's life the fullest, in every way.  She has had two cancers by the tender age of 9...and while we feel that this has been more than enough, the research indicates that she might not be done.  What will Dan and I do with this information? I will let you know when we decide, but I can assure you that we have thought about things, been forced to think about things, things that the average parent of a 5th grader never contemplates, and likely cannot remotely understand.

So, with their giant stage, I am glad that the Jolie-Pitts have shared some of their story, if only because the public at large will now have some notion of what genetic predisposition syndromes like BRCA are, and consequently, might have a better chance of understanding LFS a bit better.

 

Mosaicism: A picture says a thousand words

As I have talked to many people, I have struggled to explain my research question and find a device that would appropriately illustrate the problem that I have.  Several months ago, I even google searched images of mosaics and thought that the commonly seen murals at Disney World might help, but they weren’t quite right.  So I just tried to explain it using more words…to varying degrees of failure.


The kids had given me a daily calendar in 2009, one that had a different piece of artwork for each day.  I had gathered up some of my favorites at the end of the year and I keep the stack of them on my desk, changing them periodically (I really like art).   Upon my last shuffle of the deck, I stumbled upon a Seurat, Sunday Afternoon on the Island of La Grande Jatte, that I think is common enough to be familiar to most  (It was in Ferris Bueller’s Day Off) and can help to explain my genetic issue.

Most people, genetically speaking, would be like a living room wall….painted all one color at the P53.  You are likely red, if we choose that to represent a normal cancer defense.  Lauren and Brent, with the genetic mutation in every cell of their body, are solid blue (So we start watching for cancer everywhere…hence full body MRI).  Me?  Well that is causing some head scratching, because it is unclear.  With a mosaicism, I am kind of like this picture.

So, the painting in question uses the technique of pointillism, whereby bits of individual colors are daubed next to each other, in order to make a full picture.  Your eye, from a distance only sees a park scene from the 1800’s.  But upon closer inspection, you can an infinite number of dots of various colors.  If you consider the piece as a whole, looking for the color blue, it is obvious that there are a lot of blue dots in the lake.  But what might not be obvious, is that there are also blue dots in the brown monkey and in even in the red umbrella (or should I say ‘parasol’...it was to keep the sun off because they had a healthy respect back then for the damage of UV rays, cosmetically at least)  
If blue represents the mutation that causes an increased cancer risk in a particular cell, we know that there is a fair amount of it in my ovaries (because I had Brent and Lauren). We are trying to understand if the only blue in my body is in my ovaries (the lake), or if there is some blue in the monkey and red umbrella (skin, kidneys, liver, pancreas…) as well. 

Because if the only ‘blue’ we find is in my ovaries, I do not need to do any surveillance elsewhere, which is expensive, not at all pleasant, and pretty time consuming.  But, if I do have an increased risk generally speaking, I would certainly want to do the scans, because we have seen the benefit of early detection first hand.

So, how do we establish the location of blue dots?  You have to get up close, genetically close, which means taking samples.  So, as tissue becomes available (like those skin biopsies and the uterine biopsy from December) I am trying to forward them to my geneticist.  I had a breast lump removed a few years ago (benign) which we would like to pull out of deep freeze, and look for ‘blue’ in the cells.

And in the meantime, we have to keep a pretty close eye on the lake.  So, in December, I went to my OB/GYN to get a look at my ovaries.  All cancers are different.  I know this.  But, as my doctor explained to me, ovarian cancer is particularly difficult to screen in order to find it early, and very difficult to treat once you find it.  He advised me to consider a hysterectomy. 

Oh, and this was before he found a sketchy looking uterus with the ultrasound that precipitated that biopsy.  So, I was advised that in addition to some other medical reasons to have my ovaries out, I have an elevated, if ambiguous risk of a difficult-to-detect and horrible-to-treat cancer.  Think on it. Okey- dokey.
No wonder I had a tough time feeling the Christmas cheer.

In the meantime, Brent had another surgery, and I had two questionable skin biopsies.  I sure would like to know if there is any ‘blue’ in those monkeys. (Hence my correspondence with the IRB)  What I do know is that we are busy folk here.  I don’t want this to come across in the wrong way, but I simply do not have time to get ovarian cancer (not that anyone should block that off on their calendar)  I cannot imagine doing what we have done over the past year and a half, with a health issue of my own.

So, to the extent that I might have been a little shocked and very surprised by the conversation I had with my OB in December, I have moved past it. In fact, I came in to see him this week with a plan, and a proposal that might have surprised him a little bit. 
I am committed to oophorectomy (ovaries out) and am asking him to not necessarily use a scope, because I want a general survey of my abdomen….multiple biopsies collected of the various organs there (while he is in the neighborhood) , so that my geneticist might look for ‘blue’ while my OB drains the lake, if you will.  This was the petition that I personally made to the IRB, because on paper this sounds very much like the request of a mad scientist, completely devoid of ethics.  But, for whatever it is worth, this was my idea.  Dr. Mitchell, my geneticist, never asked me to do this.

Aside from the increased short term risk of general abdominal surgery, there is an increased risk of osteoporosis if I remove my ovaries, which, as I pointed out, implies old age.  I am quite willing to live with that (forgive the snark). And with the answers that this procedure can provide, we can begin to know how I should screen.  Science will gain something in the process, I am sure, but between you and me, that is merely a peripheral bonus.   I am being ruthlessly practical and completely self serving about this.
There will be a lot of time and effort required in order to get it done, working through insurance, the IRB, negotiating with the hospital etc...  But I have seldom been so certain of a decision and a direction.  It is a matter of how to accomplish it, rather than if I should do it.

And there is great comfort in knowing what you should do, even if it isn’t all that pleasant.  I find indecision far more disagreeable.  But maybe you should talk to me about this after I have the surgery, and see if I maintain this opinion.