I was taken aback by how detailed a description the eye specialist wanted of my family’s cancer history even before I got officially confirmed as a CM patient. Be prepared to give them everything you know, right down to which cancers, a general timeline (what ages your people got it), maternal/paternal, etc. It turns out, there’s a reason for that. CM (or any form of ocular melanoma, really) is part of a much larger cancer picture in families. The worst outcomes for OM of any kind seem to correlate with a flaw in a protein called BAP1 (which stands for BRCA Associated Protein 1).

For those of you paying attention (and who have breast cancer survivors in the family), you’re now probably experiencing the old icewater-in-your-belly sensation. Yes, it’s *that* BRCA–the one that made Angelina Jolie get her own breasts cut off.

Normally, BAP1 is a tumor suppressor. But in some families, BAP1 just plain messes up. Instead of causing breast cancer like BRCA and BRCA2, BAP1 leaves you open to a host of possible cancers, including uveal/ocular/choroidal melanoma, skin melanoma, kidney cancer, and even mesothelioma (but thankfully, only *if* you’ve been exposed to asbestos).

Here are a few links to the joy that is BAP1. Keep in mind, it has other names, too–see the bottom of the NIH page for more info. Please be advised, the top two links are really jargon-heavy. The third link is much more user-friendly, but there’s a reason for that, too–I’ll get to that next.

NIH BAP1 Page

Wikipedia BAP1 Page

Ambry Genetics BAP1 Page

Now, why have I called out the link to a (very helpful) page? Why would I do that? I’ll let Dr. Shildkrot’s reaction spell it out:

He mentioned BAP1, and I immediately asked about genetic testing both for myself and my daughter. (I have a young child, for God’s sake! Why *wouldn’t* I immediately test for something as bad as a BAP1 mutation? Right? RIGHT?) The doc’s response was to look stricken–in fact, more than stricken. Perhaps “alarmed” would be a better word.

I asked, “What?”

And though I don’t remember his exact words, his response was basically, “If you get formal genetic testing through any doctor, your insurance company is likely to discriminate against you based on those results. They can declare things like choroidal melanoma a ‘pre-existing condition’ and not cover any of its treatment if you’re shown to have a mutation on BAP1 or on any other gene associated with cancer outcomes.”

WHISKEY. TANGO. FOXTROT.

Don’t believe him (or me)? Look at that (very helpful) Ambry Genetics page again. Remember, Ambry Genetics is likely the company that would perform a (formal) genetic test for things like cancer markers. Check out the links at the bottom of that page. Notice the one entitled “Genetic Information Nondiscrimination Act”?

It’s a thing, people. What a brave new world we live in. It doesn’t matter that genetic discrimination is supposed to be illegal. The closest analogy I can come up with is that it’s supposed to be illegal to sexually harass someone at work, or to fire someone for getting pregnant or sick, or to deliberately pass on hiring a qualified candidate just because they’re black or gay. But we *all* know someone that’s happened to, don’t we? Including (probably) ourselves!

Now I understand why so many people are flocking to the anonymous, almost-junk-science genetic testing companies like 23andme to find out about their genetic makeup. They’re doing it that way so they can get the information they need without getting victimized by their insurance companies in the process. Some employers even use genetic testing results to discriminate against their employees.

Why would anyone want to stand in the way of the science that can someday help cure cancer? Why wouldn’t any insurance company want to know that one of their insured has this gene, so they can get that person early screening and avoid the bill for a full-blown cancer treatment? It’s as if the insurance companies and employers want everyone to live their lives with their heads in the sand, just taking whatever the genetic lottery gives them, and hoping that if they ignore it long enough that somehow it might not happen!

I’m mad at myself that I never paid any of this stuff a lick of attention before. I consider myself a pretty-well-informed, well-read, smart, and moral person. That this issue escaped my attention makes me angrier than Hell. Trust me when I say I’m in the process of figuring out how to protect my daughter right now. And I’m probably going to end up starting with a junk-science-genetic-test, just to rule BAP1 in or out. I don’t know if 23andme does that particular test, but I’m going to find someone who does.

Now, to the *rest* of the genetic picture. And trust me, it ain’t pretty either.

There is only one company in the US that performs genetic testing on CM biopsies. It’s called Castle Biosciences, and they developed the test because no one else saw enough profit in it. Castle says they believe patients with rare diseases deserve care, too (Woohoo! What an amazing concept! If it were up to traditional biomed and pharma companies and my insurer, my options could have been summed up with ‘go curl up in a corner somewhere and die!'”). The test Castle performs is called DecisionDx. It costs north of $2,000, and insurance companies often won’t pay it even if they know it’s coming. It has to do with how rare the disease is–very few insurance drones-behind-desks even know what CM is, let alone that the $2,000 test performed by only one privately-held “boutique” biomed company in the entire country (not some uber-giant like LabCorp or Quest Diagnostics) is the *only* test out there. It will generally be covered once you’ve fought it out with your insurer, but you know it’s bad when the specialist is the one who warns you about the fight.

Here’s the link: http://www.myuvealmelanoma.com/

I haven’t been presented a bill for mine yet. I’ll let you know when it happens, and how to handle that particular crisis when I figure it out myself. I’ll update this post with whatever “magic insurance words” I discover.

What the test will tell you is what type the tumor is; whether any of its chromosomes are degraded; whether it’s not likely to metastasize in the next five years, or whether it’ll metastasize like wildfire. In short, it’ll tell you what your treatment options down the road are likely to be. It gives your doctors a big hand up in figuring out how to protect you in the future.

As it is, if you’ve got any form of OM, you will have to get ultrasounds of your eye every month for the first year after treatment *and* a combo of imaging and bloodwork every six months for the rest of your life, full stop. That’s as good as it gets. Welcome to your new normal.

But if the biopsy goes to Castle and comes back with a bad report–like degraded chromosome 3, for example–your prognosis could be an awful lot worse.

The classes (or types) are:

Class 1A: very low risk of metastasis over the next five years (2% chance)
Class 1B: relatively low risk of metastasis over the next five years (21%)
Class 2: high risk of metastasis over the next five years (76%).

Hang on for the worse news: metastasis from a primary CM tumor tends to go to the liver, the lungs, or bone. Most often (80% or more), it’s the liver. This makes a world of sense, given that CM is effectively a blood cancer. The liver deals with all of your blood multiple times every day. Metastasis anywhere else would be kind of a shocker, really.

Liver cancer isn’t curable. It can be painful, recurrent, and is most often fatal. The five year survival rate for a secondary liver metastasis of CM is 15%.

I’ll give you a minute to cry your eyes out over that one. I sure did. I have a young daughter, for f***’s sake.

But the report from Castle will tell me what my odds are…and whether or not I need to start making plans.

I get my results back on December 15, 2016. I’ll update as I find out more.

Now, here’s the (potentially big) wrinkle for the Castle test: It requires a biopsy of the tumor *before* it gets irradiated. The biopsy itself is performed while you’re asleep, so no biggie there. But remember, OM is effectively a blood cancer. Biopsies require sticking a needle into the tumor…which means there’s a chance that the biopsy could *cause* metastasis. And it’s not a vanishingly small risk, either. Some papers put it at upwards of 20%.

IMHO, given that CM metastasizes at the microscopic level, I think it would be practically impossible to discern whether a given metastasis would have been caused by the biopsy or whether it was already in progress; and if any cancer that escaped my tumor during biopsy was too powerful to be killed by the radioactive plaque that got slammed down on it immediately after, then shoot–it was gonna get me anyway. And since Castle banks the biopsy tissue both for scientific comparison and for the patient’s later use, I’d like to know that whatever got me has a chance of helping *cure* this SOB down the road. I don’t want to be the next Henrietta Lacks, but if this thing takes me out, I want to have a shot at kicking cancer’s ass personally…even if it’s just my cells in a dish somewhere doing the kicking.

Update: Well, we all know how the testing thing worked out.  But what also sucks is that the banking of biopsy tissue is *not* automatically done by Castle Biosciences.  You have to request it separately…which means none of my tissue was banked…which means that, if my cells ever kick cancer’s butt, it’ll be because doctors biopsied a metastasis elsewhere in my body and got it that way.  Now I *really* don’t want to turn into the next Henrietta Lacks…

Update #2: Long story short, the Decision DX test is $8,000, not $2,000. BCBS refused to cover it–they shipped me a check for $400 and wiped their hands of it. But this is how cool the Castle folks are: I called them up and explained the situation. They sighed and said, “We’re so sorry. This happens a lot. Did you receive a proxy form from us? Good. Fill that out and send it to us along with copies of your EOBs and that check from BCBS, and we’ll fight it out with them. You don’t need to be in the middle of that. Castle *never* passes along the bill to the patient. Ever. So cross that worry off your list. You’ve got more important things to do, like getting well.” And they’ve been true to their word. Thanks, Castle. As my friend Bud would’ve said, “Youse a mensch.”