Wednesday, March 27, 2013

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’ 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. 

1 comment:

  1. Great blog - keep up the good work.