Hope in the Face of a Hereditary Disease

by ParentCo. April 21, 2017

human body anatomy

Yesterday, I looked at a cross-section of myself. Hundreds of them, actually. It was like a digitized version of that plastinated human body exhibit by scientist Dr. Gunther von Hagens. Except my cross-sections were horizontal as if I’d been sliced like a salami from sacrum to sternum. It’s a strange thing to flip through monochromatic sections of your torso like an anatomical deck of cards. "Body Echo" motion tests from Jeremy Cox on Vimeo. What I saw made me wonder how my liver and kidneys still manage to keep me alive. I saw cysts, hundreds of them, probably thousands, bubbling up around and inside both kidneys and colonizing my liver like an invading army. “Where’s the healthy tissue?” I asked my hepatologist, who sat next to me in the examination room reviewing my CAT Scans. He pursed his lips. “Well. Here…and here, and you can see this area over here…” It was like looking at a bunch of grapes, some of them plum-sized, and trying to focus on the spaces in between the fruit – the residual gaps, the mean, irregular vestiges of unaffected cells, which have to work so much harder now to make up for the loss of the rest. “How do they even…function?” I faltered. “The human body is an amazing thing,” he replied. This did not come across as a comforting statement, although it really should, because it’s what I’ve got going for me as I contemplate the second half of my life as a PKD patient. PKD stands for Polycystic Kidney Disease. It’s a hereditary condition in which fluid-filled cysts grow throughout the kidneys, supplanting healthy tissue, and eventually causing kidney failure. PKD can affect other organs as well, including the liver, pancreas, spleen, ovaries, large bowel, brain, and heart. If it affects the heart, valves malfunction, causing heart murmurs, or worse. If it affects the brain, an aneurysm is likely, resulting in stroke or death. Considering all that, the ways in which the disease has compromised my liver seem less dire – even though it’s three times the size of a healthy liver and spreads across my entire abdominal region, filling my body cavity like spray foam insulation fills the gaps in a stud wall. This doesn’t leave a lot of room for other useful viscera, like the uterus, the stomach, or the intestines. My period seems to last twice as long. Digesting food amounts to a protracted, squelchy, uncomfortable process. After eating, I appear to be well into my second trimester. Strangers happily inquire if I’m expecting. My two sons, who have been begging for a little sister for years, will say, “Mumma, is there another baby in your belly now?” “No,” I explain. “My belly looks this way because my liver and kidneys have cysts, which makes them bigger than usual. It’s like I have cyst babies that grow inside me, but unfortunately, never get born.” So we call them that now – my cyst babies. It helps me laugh about it. “Your cyst babies look weird,” my boys say. “They sure do,” I agree. When compressed, I can’t breathe very well, or at all. In the yoga studio, I need to take a break between Kurmasana and Supta Kurmasana so my lungs have the space to take in some air. My teacher will notice me there, slumped, limbs slack, swollen back heaving. “You okay?” she whispers. “Cyst babies,” I say on an exhale. She’s used to it now. The whole compression thing also applies when crouching over little shoelaces or Lego kits spread out on the living room floor. It applies to stomach sleeping, which I can’t do anymore and miss like hell on nights when my neck is stiff and insomnia seeps in. It feels like I’m tightly packed, which changes how I sit, how I walk, how I laugh, how I hug. If people felt as compelled to feel my belly now as they used to when I carried my sons, they would be surprised at how taut it is, like an over-inflated kickball. It’s also extremely tender, so when my kids want to wrestle or play Mom Sandwich or come bounding toward me headlong for high-impact hugs, I use my forearms as padding or go concave to avoid a painful collision. My dad, who suffered from the same disease which took his life a year ago, used to do the same. I’d watch him put his arms out as his grandkids approached him, as much to deflect as to receive – to protect his (not quite comically) distended, Humpty Dumpty midsection without making anyone feel he was pushing them away. kidney vessels I sat quietly as my doctor flipped between the scans from two years ago and the scans from last month. I didn’t need him to explain what we were looking at, but I let him do it anyway on the off chance that he would point out some positive indicator, some encouraging sign. “As you can see,” he said, with practiced reserve, “this area had plenty of regenerative hepatocyte function a couple years ago. Now that same area…” “All cyst,” I said, flatly. “Yes, but your numbers look good. You still have relatively high kidney function. And because the liver regenerates, you are not yet in danger of liver disease.” “Really!?” I laughed, then tried to turn my incredulity into a joke. “So what would you call that liver? Disease-ready?” “You don’t have Fibrosis or Cirrhosis. You are maintaining.” “But I want to do more than maintain,” I pressed. “I want to fight this. I want to do my research and understand my options. And no offense, but I’m a second-opinion kind of gal.” He clicked over to my bloodwork results and pointed to a series of numbers next to a stack of medical acronyms. “When I see those numbers change, we can start talking about more aggressive treatment…cyst decapitation or even transplant. Meanwhile, keep hydrating, eat well, stay active, do your yoga.” Then he reminded me, as he so often does, that to undergo invasive surgery of this kind, the pros absolutely need to outweigh the cons. “And right now, I can’t promise you they do. These are complicated procedures.” Then his expression changed, from bedside-clinical to something a little more kindly. “Things can go wrong,” he said. “You can die. Think about the quality of your life right now, your life with your husband and kids. Then ask yourself if your day-to-day is compromised to the extent that you’re willing to take that kind of risk.” “I hear what you’re saying.” And I really did. I hear it every time I look at my peculiar profile in the mirror. “But why not get ahead of the game? Why wait until I have twice as many cysts as I have now? My father got to the point where surgery was no longer an option; his body couldn’t withstand it. I don’t want to wait that long. The healthier I am, the greater my chances for recovery. And if the cysts are the disease, why not get in there and remove as many as you can? Wouldn’t that be less taxing for my organs over time? Then in five years, we can do it again if necessary.” Also,” I added, less casually than planned, “I’ll look less like a pear on stilts.” The doctor blinked at me. “Promise me you won’t take this the wrong way,” he said, patting my knee. “You are a young, beautiful woman. I know it’s uncomfortable to see your body change. Is it possible that the reason you’re interested in surgery has more to do with how you look than how you feel?” Now it was my turn to blink at him, and at his hand, which he removed. The words I wanted to say ran through my mind: I have a chronic terminal disease, for chrissakes! What I may look like on the outside has nothing to do with what’s happening in my abdominal cavity, you creepy, patronizing, outmoded piece of…. Or maybe our outsides have a lot to do with our insides. I can often guess when my yoga friends are at the end of an Ayurvedic cleanse. Their gait is light and easy, the whites of their eyes brighten, their skin glows, their hair shines. On the other end of the spectrum, I’ve watched bodies become addicted to heroin, deplete and die of alcoholism, contract ulcers and shingles from sheer exhaustion and stress. I saw the change in my favorite aunt’s eyes after she endured a massive brain stem stroke. I sat by my father as his liver finally let go. Each of these maladies manifested itself visibly, as plain as the nose on your face, transforming once beautiful, vibrant people into husks of their former selves. So maybe my doc’s borderline sexist remark was at least well-founded if poorly delivered. Maybe he meant that my physical appearance is an accurate indicator of my renal and hepatic health. It would help me to know that he’s not just placating me when he says I’m doing a good job of managing my illness, in spite of inevitable organ failure. Later that night, as my bowels slowly churned my dinner down, my stacked deck of deformities flashing through my mind, I looked at my husband across the table. “You need to live a long time, okay?” And then losing all composure: “Please stay alive as long as you can for the boys.” There’s a 50 percent chance both of my sons have inherited the disease because the gene for PKD is dominant. “The prospects are similar to the flip of a coin,” states one article (a bit too trivially). Never once did these odds make me question whether to have kids in the first place though. As far as diseases go, it’s one you can live with, and for a long time, too. We could get the boys tested, but given the lack of preventative treatments, I’m not sure the knowledge would help us at this stage. My childhood was mercifully free of any awareness that I might have a genetic defect. It wasn’t until my sophomore year in college that I first experienced the symptoms full on. I remember my dad apologizing to me as I lay in a hospital bed packed in ice with a 104 temp and an infected cyst the size of a grapefruit. “What a shitty situation,” he said, gripping my hand. “I’m so sorry…this damned disease.” “Aw, c’mon, Dad. It’s not as if you decided to give it to me.” Tears welled in his eyes then. It was one of the few times I ever saw him cry. I think to ease his burden, I added, “I did somehow end up with all your weird traits though – the scrawny legs, the bunions, the crappy eyesight.” “And my fabulous sense of humor, too, my dear.” Now, at 42, I have a far more acute awareness of how PKD will impact the length of my life, and, in turn, how the length of my life will impact the lives of my sons. I can even see, with a fair amount of accuracy, how I might die. But so what? Today, I am alive. If anything, my explicit mortality has helped me live more fully. More gratefully. For many years, I held onto this idea that I was headed somewhere else, still traveling toward another way of being. When I got there, everything around me would reflect my achievements. My consummate arrival. Likewise, my goals have always been futuristic, elaborate, manifold, involving exotic places, extreme adventure, and New York Times Bestseller fame – as bright and far away as the sun. Now I have one goal. It’s as close as the thump of this heart in my chest, and all the others have been form-fit to fall within this one: to extend the life of my organs by whatever means necessary. There is no cure for Polycystic Kidney Disease (yet). There are no proven treatments or definitive action steps. But I know what I need to do. When you see yourself vividly – in cross-section, or at the sheer edge of a cliff at night, or sitting in a deck chair surrounded by your grandchildren – you realize there is no more waiting for life to happen. You realize life is this breath only. And now it is this breath. It is not what happens tomorrow. Not the list of house projects yet to be done, or the imagined landscaping you will probably never be able to afford anyway. It is not even that dream of a simpler life on the other side of the world: of that little cabin on a beach by the Tasman Sea, with only your boys and some boats and stories by the light of a fire to fill your days. When you weren’t looking, that idea of “someday” zoomed in to close range, like Grover right up close to the camera and all out of breath as he illustrates the considerable difference between NEAR and FAR. Someday is like that, right here, staring you down, and a little exhausted by your inability to grasp it, even after all these years. “I know we’re dealing with a lot these days,” my husband texted from on location this morning, “but this is it. This is what we’ve got. I love you.” He’s right, of course. We’ve got only this one life. It’s already all around us, waiting for us to notice it, to fill it, to love it. What a tragedy it would be to miss it worrying about death. And just now the sun has spilled into the room, changing everything. The chimes out the window are signaling in the wind, and the bird that just landed on the end of that rafter tail is cocking her head as if to say, “So what are you doing here?”



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