What do you mean there’s no nanobots? My first step in cancer genetic testing
This post is about my decision to get genetic screening for cancer risk. It contains frank discussion about death, disease, mental health, and medical tests and procedures.
Early in 2013 when my dad was just 54 he died from a recurrence of esophageal cancer. I was 23, and spent his last few months living with him and caring for him until the end. That’s another story for another day, but as you might imagine it left me pretty traumatized, terrified, and lost. During the same time his brother had colon cancer that sent him sailing on the river Styx last year. He was only 58. Their mother is still living after four bouts of cancer. To be clear, I don’t mean four recurrences of one cancer. Four different cancers. Strongest woman on the planet? You bet your ass.
Having all of these things happen to my family before I hit thirty has left me with a not-unreasonable fear of any and every illness that I’ve ever gotten. My dad’s troubles started with shingles and an upper respiratory infection in November and by December we learned that the fluid around his lungs contained cancer cells. In January he was gone, and now Ghost Dad lives in a plastic bag on a shelf in my sister’s dining room. So it goes. I’d lived with him through his last few months and hearing someone’s death rattle tends to stick in your memory, and now any sign of chest congestion from me, my son, or my partner rings in my ears like a heartbeat from the floorboards. Edgar Allen Poe was an orphan just like me. To put it mildly, having a dead parent will ramp up your Mortality Anxiety by a factor of several million. Sadly I have yet to make it big with goth poetry like Eddy did. Maybe someday.
Fast forward to now. I’ve got a three year old and I’d really prefer that he not have to see me die for a real long time. Thanks to the ACA I’ve been able to search for answers to a lot of my chronic health problems and get treatment for my mental illnesses. Oh yeah baby, that’s plural. I am a real catch. When my kid was two weeks old, I found myself awake at night staring at him with a brain full of fear telling me all the ways he could die. Not normal new mom nerves; I was paralyzed with anxiety. Since then I’ve known that taking care of myself was no longer just about me. It’s really easy to convince yourself that you’re not worth it. For me it took the 3am sleep-deprivation demons to realize that I needed to get my shit in order for this tiny creature.
A few months ago it occurred to me that genetic testing could give me answers about my risks for developing cancer early in life. I wish I had a lot of details to offer about the process, but I just discussed it with my primary care doctor and she agreed to give me the referral. I’ve never really tiptoed around asking for what I need from doctors and I’ve been lucky enough to get what I need almost every time. Since genetic counseling isn’t your everyday run-of-the-mill type of referral, she had me check with my insurance company to find out what services and doctors would be covered. She had me fill out a form showing my family’s cancer history and other major medical issues and faxed it to their office at the cancer center. The office called me and set up an appointment for a few months later. It just so happened to be the day after my dad would have turned 60. Sometimes life is weird like that. Goth poet in the making, I’m telling you.
They sent me a packet in the mail so I could fill out an in depth personal and family history. I’ve got a Google Doc shared between my sister and I and our partners to keep all of our info in order. With all of the diseases and disorders on each side of our family tree there’s no way to remember it all off the top of my head. The packet I filled out had me list all of my family members, with cancer and without, including grandparents, aunts, uncles, and cousins on both sides. Most crucial is type of cancer, age at diagnosis, and age at death. They also needed to know all of my own medical history, including surgeries, medications, diseases, conditions, – not just ones related to cancer.
In general, the criteria they look for to consider testing is you or a blood relative with one or more things:
- cancer diagnosed very early (before age 50 seems to be the key)
- multiple types of cancer in one person
- similar cancers in multiple members on one side of your family
- a family member with a known gene mutation
- being a member of a race/ethnicity that is known to have increased cancer risks
Having one grandparent who died at age super old from a normal kind of cancer probably won’t raise the kind of flags they look for as a genetic risk. My grandmother on my mom’s side died in her 80s of lung cancer, and lung cancer hadn’t popped up with anyone else on that side of the family so they weren’t looking at that as a genetic issue. From this helpful chart that they gave me I learned that only 5-10% of cancers are thought to be hereditary. Where scientific progress currently stands, there are only certain genes and gene groups known to be tied to specific cancer risks. Your family history is not going to be the same as mine. Your specific set of relatives and health history will be looked at together to find out if testing would give you new helpful information, so don’t base your decisions on anything I’ve mentioned. It will all be different for you. The test she recommended for me looks at 34 sets of genes, and the internet tells me that it was only 28 on this test a few years ago. Things change quickly!
My counselor looked at my family history and while we talked she sketched out a family tree. Each female was a circle shape, each male was a square. People with cancer got a dot inside their shape, and people that had died got a very distinct diagonal line through their shape. I liked it. I like charts, and visual organization methods. Below each shape she wrote name, age, diagnosis. I learned that my dad’s esophageal cancer was almost certainly caused by his smoking and drinking and being male and being too stubborn for preventative care. Why fix it if you can avoid it and never tell anyone about it for twenty years? If you should find yourself eating handfuls of antacids every day, please get yourself to a damn doctor. I digress.
What my counselor focused on was my dad’s mother having four cancers that are often related: two types of breast cancer, colon cancer, and uterine cancer. Her other son had colon cancer as well, and they both were diagnosed in their fifties. Not super young, but on the earlier side. We talked about the way genes are passed down through families, the ways they get mutations, how risk factors are calculated, how tumors form. You know, super fun and casual afternoon chatting. Poe would have loved an afternoon discussion on mortality, I’m sure.
She spent nearly two hours with us, answering all of our normal and ridiculous questions including when my sister and I went off on a tangent about CRISPR. “I learned about it on NPR,” my sister said. “I learned about it on the neuroscience Reddit!” I replied. This is the fundamental, and indeed only, difference between my sister and I. Otherwise we are identical. You will please ignore the 7 year age difference. We have all of the same diagnoses, all of the same weird issues, and I know that while we both know what DNA is technically we are pretty much positive my DNA is a precise copy of hers. The genetics professional wasn’t quite convinced of this, but what does she know?
I mean, she knows a LOT. That’s why I went. After we went through all of the technical science stuff I asked her about brains. Not about brain tumors. I told her about my anxiety and my tendency to convince myself that every cough, bruise, or hang nail is one minute away from turning into a fatal condition. If I found out something terrible would I spend every day of the rest of my life waiting for the axe to fall? Well, the honest answer is that I already do that. My anxiety convinces me daily that I’m just around the corner from a gruesome ending. My partner and sister reminded me that I have always been the type of person to search for more answers, and that I tend to find more information helps calm my fears. I have, for as long as I can remember, been taking things apart to figure out their workings. If this test means having more answers for myself, my kid, my sister, or her kids it’ll be worth it. I’d do anything for them. Anything. We have lost too much to parents who refused to care.
The choice was entirely up to me. There was no pressure in either direction from the counselor. Her job is simply to look at all the information I could give her and see what can be done with it. She told me she’s seen people who took the decision too lightly and got results they weren’t at all prepared for. She’s seen people get crucial information that helps them make choices for their future. Never at any point did she insist that I needed to get tested or that something about my health or family necessitated doing any tests. I even asked her, “If all my tests come back super positive for every bad thing, are you going to tell me that I’m going to die tomorrow and have to start eating kale and lose a hundred pounds?” She pointed out that all doctors are going to recommend those habits to anyone regardless of tests but no amount of kale would change my genes. Checkmate, hippies! She also told me that even if everything came up positive there was no guarantee I would get any sort of cancer. My brain ravens cawed inside my head to remind me that I could get hit by an asteroid at any moment. Thanks brain ravens.
We discussed the cost. Every insurance company covers different things with different requirements. She said the particular insurance company that I’ve got usually covers it, but that the laboratory who does the test will confirm coverage for me, and if it isn’t covered, or is only partially covered, they’d contact me and discuss options before going ahead with anything. Next, I wanted to know what the cost would be if insurance didn’t cover any of it at all. I was bracing myself for a figure in the range of a yearly salary. Nope. The cash price with no insurance coverage is $400 (CancerNext panel from AmbryGen, don’t quote me on this figure though. No you can’t call and order their test and spit in a tube, it’s not like that. It’s real). From my few glances at the company’s website you can set up payments and they have financial assistance. So it’s not nothing, but I also wouldn’t have to start making meth to finance the testing either. Evaluating the benefits versus cost, that’s a price I’m willing to pay. Hell, the health and ancestry kit from 23andme is $200, doesn’t give much credible health info, and I already know I’m white. Just another similarity between me and good ol’ Edgar A. Poe.
So I said yes I want to do the testing. And she said, ok cool, wanna do it now? Wait what? Now? I don’t have to do anything to prepare? Nope, it’s just a blood test. They take two small vials of blood just like any other test. No weird machines. Definitely no nanobots being put into my bloodstream. Are you sure I don’t get any nanobots? She never even once got mad at me for mentioning nanobots so many times. What a saint.
She got a little box out and did some paperwork. I signed off that I knew what I was signing up for, and that I knew it could affect my eligibility for life insurance (at the moment, genes can’t be used against you for health insurance, but we don’t really know what will happen in the future with any of that. Sigh. I decided to take advantage of having good health insurance now, and to cross that bridge in the future if it comes up). There was a blood lab in the same building so I went down and had my blood drawn, they labeled it, and I dropped it back off at the counseling office. It took about ten minutes including the walk. In about 3-4 weeks, the results will be sent to my genetic counselor and I guess I’ll post Part Two then.
When I was pregnant with my son all of the pain I felt from my own parents overwhelmed me. I was in pain every day, both physically and emotionally. I was scared of passing on a legacy of that pain: avoiding problems, hiding secrets, running away, continuing a line of unhealthy coping mechanisms instead of facing reality. I was terrified of bringing a new person into the world and leaving him with a broken woman for a mother, just like the woman I was born to. The pain of knowing my father would never meet my child, that he would never see that I turned out okay, was unbearable. I convinced myself I would never survive my pregnancy, and that it would be better if I died before bringing an innocent kid into my mess of a family. My anxiety, depression, and PTSD quadrupled in strength and the only thing I knew how to do was ignore the problem and hope it went away. Until then I had never even considered pursuing treatment for it. Compartmentalize, avoid, ignore. My mom was such a pro at it that one day when I was ten she just left and didn’t come back. That was our familial way of life. Combining avoidance with the most life-changing phase of my life created a perfect storm that almost took me out with it.
When I was in the depths of the storm a friend told me that in her struggles with mental health and motherhood she’d learned to re-frame the way she thought about herself. It is easy to dismiss ourselves as not worth taking care of, especially when we spend our whole lives being treated as less than worthy of care. But taking care of Luca’s mom? That’s a no-brainer. Staying alive for him? Keeping his mother well? That I could try. It still seemed impossible, but it seemed like a goal worth pursuing. I’ve wished every day of my life for my mom to care about me, or even about herself. I’ve prayed that I would be enough for her to just try, just a little bit. That she could find some optimism or hope. Something to look forward to. Maybe she never had a friend in the storm to remind her: just wait and see. You can make something good. And then that something good will put their little arms around you and tell you they love you, and maybe if you can’t bear another day for yourself, you can keep waking up for them. When it comes to staying alive it’s easy to say we should do it purely for ourselves, but here in the real world I’ve found we’re mostly sticking around for the people we love. And I think it’s okay when you’re inside of the storm to try and stick around for them if you can’t do it for yourself.
I plan on sticking around and trying as long as I possibly can.