The Family Gene

by Joselin Linder

  Aaron had a lot more questions. He understood that this procedure could unblock my blocked portal vein, but he didn’t like the potential negative side effects. I was feeling stubborn. I knew I shouldn’t have a baby. Whether or not I wanted to have a baby had become increasingly beside the point—I wanted to be able to have a baby if I wanted to. I also wanted to prevent my condition from getting worse. Valerie had undergone a successful TIPS in 1991 when she was about my age.

  “But what about her stroke?” Aaron countered.

  What about it? The two probably weren’t related. Or maybe the stroke happened because they removed her spleen. Theoretically, they’d never have to remove my spleen if they opened my portal vein. But it was all theory. The upside to feeling healthy while you are really, really sick is that you can take your time making decisions. That day, we decided not to decide.

  * * *

  A year earlier, on March 29, 2011, on her Facebook page, my cousin Denise had written something alarming:

  “This has been an extremely difficult month for me,” said the oversharing status update. “I need to see a liver transplant specialist.” Denise, Valerie’s niece, was a year younger than me. I commented. “Denise, I think you need to come with me to Boston.” When she called me, she confirmed that her doctor had worried she might need a liver transplant because of a blocked portal vein.

  Three blocked portal veins in the family. I decided that we needed a conference. Everyone living with our gene needed to come together at the Seidman lab to undergo testing. We needed to better understand what we were dealing with. I’d finally organized a group meeting with Dr. Kricket. Everyone came except my eighty-nine-year-old grandmother and Hilary, whose fear had gotten the best of her.

  Dr. Kricket administered the tests that were required for her study, including MRIs for those who hadn’t had them. It turned out three portal veins had “failed,” becoming blocked. One person had minor blockage. Another had nothing. Better news came when Valerie and Suzanne learned that none of their sons had inherited our gene. Denise brought her two kids, Chelsea and Zackary, who had been born before we understood our genetic lottery. They were tested for the gene. Neither had it.

  In that moment, I understood the importance of the gene not passing to Chelsea and Zack. This meant that to this point, no one in the generation after mine had the gene. It felt miraculous and empowering, in the midst of such a dire situation.

  After Hilary finally got up the nerve to have an MRI done the following month in Columbus, her doctor entered the room with his hands shaking. He led with a proclamation: “Hilary, I’m afraid you are a ticking time bomb.” He wasn’t sure how much time she had, but after he read the alarming MRI results, there was no reason to think she had long. Moreover, she probably needed a liver transplant, posthaste. (Can you guess why? I’ll give you a hint. It rhymes with “shlocked shortal shein.”)

  Hilary called me in tears.

  What my sister’s doctor told her was pretty much the same thing that Denise’s doctor had told her, and even what Dr. Kricket had told me, with the gentler suggestion that I simply not throw up. I think Dr. Kricket was better prepared for what she saw when she looked at my insides swollen with collateral pathways of blood, thick snakes whirling through my stomach and small intestine. She was more ready, even if she wasn’t exactly ready. Hilary’s doctor, on the other hand, just got scared.

  * * *

  This was the moment I decided to have the TIPS. As 2011 drew to a close, I decided I wanted to have the procedure as soon as possible. Unlike Denise and Hilary, I didn’t have children. I was the right guinea pig. I had Dr. Kricket’s full support and Dr. Charles was ready to perform it. Aaron took several days off work after I scheduled the surgery.

  Dr. Charles is a careful and deliberate surgical radiologist. When I woke up in recovery, my husband sat gently stroking my hair. A few minutes later, Dr. Charles walked into the room, smiling. The procedure had gone perfectly. As soon as he’d opened the vein, blood flowed with gusto. Aaron and I smiled at each other and sighed.

  I spent the night in my own room in the NYU Langone Medical Center ICU with a stunning view of the East River. Because TIPS procedures are typically performed on the desperately ill, insurance required what was for me decidedly excessive overnight care postprocedure. ICU patients are usually asleep. Or, in other cases, like the poor woman somewhere down the hall, they are crying out in agony.

  Me . . . well, I was hungry. Famished. I hadn’t eaten anything since the day before. I buzzed for my nurse. He scoured the halls and finally procured the saddest-looking, yet most wonderful green Jell-O cup ever to be swallowed in one gulp.

  * * *

  The next month I flew home to Columbus, where I accompanied Hilary for her first appointment with a specialist at the Cleveland Clinic. I wanted to be the calming presence in the room when the next announcement of imminent death was intoned. I was beginning to feel like I had become the family expert on our gene, a 360-degree turnaround since my dark days in San Francisco. I knew the options. I knew that we didn’t have what our father had. I knew we also didn’t have what our grandmother had. My cousin Valerie, with whom I had grown close over the last two years, was alive and thriving. We had matching flowing portal-vein shunts to prove it.

  Hilary’s doctor agreed that the next step was a TIPS procedure of her very own. We both felt hopeful about the future.

  Later that night, I started wildly yelling at my mother. Everyone yells at their mothers, but I cried, screamed, and announced that my relationship with her was over forever. I stormed out and spent the night at Hilary’s. By the next morning, I couldn’t remember what the fight was about, only that we were no longer speaking. I spent the last night of my visit at Hilary’s house.

  As I sat waiting for my flight back to New York, I heard the announcement for preboarding. I decided to write a quick e-mail before packing up my stuff. About a minute later, I looked around. The gate was empty. My plane was gone.

  Confused and panicked, I screamed at the airline employee. Why hadn’t she called our flight? How could I have missed it? I was so tired and angry from the fight with my mother that I felt foggy, like I had to actively try to hold on to my thoughts or risk forgetting them. At one point, I even thought: I have to remember I am thinking this . . . Once I calmed myself down, I quipped to the gate attendant that she probably saw this all the time, people missing their flights.

  She didn’t even look up as she replied, “Not when they’re sitting at the gate.”

  Sitting at the gate, I stared at the gangway until the next flight to New York boarded. By the following day, my anger had abated. When I recounted the trip to Aaron, he got stuck on one detail in particular.

  “You can’t remember what the fight with your mom was about?”

  “No,” I replied. “But you know my mom. She’s so crazy.”

  “Hang on,” Aaron clarified. “You mean the fight that made you think you might need to end your relationship with your mother had no starting point? You don’t know why you got so mad that you left your mom’s house and didn’t say good-bye?”

  “No,” I replied again. What was he trying to say?

  “And then you missed your flight, but you don’t know why?”

  I laughed because the idea of it was so funny.

  “You don’t think it’s encephalopathy, do you?” he asked carefully.

  “No,” I answered decisively.

  Quick to anger. Loss of a sense of time. Loss of my edge. Suddenly it all came into stark relief. Encephalopathy, a swollen brain caused by a failure of my liver to sufficiently clean out toxins from my blood. It had made me have some kind of meltdown.

  Luckily, I had an appointment with Dr. Sigal the following week. I was feeling better. I planned on asking him: Does encephalopathy come and go? Because right then I felt like it was gone. Unfortunately, when the appointment date finally arrived, there wasn’t time to ask. Dr. Sigal came barreling into the room where I was w
aiting patiently to pepper him with my questions about encephalopathy. He had results from an ultrasound I’d just had to monitor the stent in my portal vein.

  “We need to admit you right away,” he said, scaring the shit out of me. “Your TIPS is blocked. We have to clear it.”

  Dr. Charles managed to squeeze me in for the procedure first thing the next morning. Everything moved quickly. When I awoke several hours later, it was déjà vu, with Aaron stroking my hair in the very same recovery room I had been in the previous month. Dr. Charles came in. He wasn’t smiling.

  “I couldn’t get it to open,” he said, looking tired.

  “That’s okay,” I said, trying to comfort him. He looked so disappointed. “Did you just reverse it?”

  “What?” he asked.

  “Did you just take it out? You know, reverse it?”

  “I can’t just take it out . . .”

  “No, you can! We asked . . .” Aaron and I had both asked a number of times in a number of different ways. A TIPS can be reversed; they’d all told us.

  But it turns out “reverse” didn’t mean the same thing as “remove.” When doctors talk about reversing a TIPS, they mean they block it. The little man-made piece of mesh and plastic never comes back out. It simply clots like a boulder in the middle of my liver, creating more and more varices throughout my digestive tract, waiting to burst.

  Nothing was different. Actually, everything felt worse.

  The next time I saw Dr. Sigal, Aaron was with me. We asked again about whether or not I could have a baby. His answer was what I expected: carrying a baby could be exceedingly dangerous.

  Aaron’s reply then was short, concise, and perfect.

  “Well,” he said wonderfully, “it’s a good thing we love dogs.”

  Next, we asked Dr. Sigal what his plan of action was going to be in my case. Gastric varices and an enlarged spleen still loomed ominously. He looked at us with a short, unhappy smile and shrugged.

  “We wait until you bleed,” he answered. That’s what he said.

  We wait until you bleed.

  Thirty-One

  I bought a med alert necklace that hangs in my bathroom and only rarely around my neck unless I think it matches my outfit. It read: portal vein block w/o cirrhosis check varices for rupture call aaron, followed by his number. I don’t know if Aaron would know how to explain what the words on the necklace meant if someone had to call. I don’t know if anyone would understand it if they read the words. Frankly, I don’t fully understand what will happen the day that necklace becomes relevant.

  Dr. Sigal told me he had an idea to cut off the blood supply to my spleen in the event of a bleed. I kept planning to make an appointment with a doctor at a hospital that uses glue to stop internal bleeds. I spoke to a specialist who insisted he could still break through my blocked portal vein and ensure that it stays unblocked—although it was unclear which was bigger, his understanding of my situation or his ego. If I tried another TIPS, encephalopathy, the toxin-based brain swelling that made me miss my flight and fight with my mother, could come back. I could lose my edge. I could lose myself. Every one of my possible paths was a gamble. So I wore my med alert necklace because with combat boots and red lipstick it was a little bit punk rock.

  I was still waiting for news from Dr. Kricket and the Seidman lab. I was hopeful that they would come up with an answer, that eventually they would solve our puzzle. What had caused my father’s massive ascites? What had caused Valerie’s stroke? My blocked portal vein?

  * * *

  Dr. Kricket sent me flowers after my TIPS procedure. When the procedure failed, she called. I told her that before the stent, when I pictured my failed portal vein, I tried to imagine blood flowing through it. I thought it might help. But now, when I pictured a boulder in the middle of my portal vein, I was scared to imagine blood flowing to it. I was afraid it would make everything worse.

  “It’s more like a pebble,” she assured me, “placed in the middle of trickling water down a hill. The water doesn’t stop because of the pebble. It goes around it.”

  It was a gentler picture. Dr. Kricket was a master at that. She told me that over time, she hoped, my body would reach a point of stasis, with the varices functioning efficiently and posing little danger. Hope, however, isn’t the same thing as truth.

  It wasn’t just a sympathy call. Dr. Kricket had called to tell me about an idea she had. Actually, she said, Meredith Moore had suggested it long ago when she first mapped our gene. Since our gene was on the asthma gene, there was an active ingredient in some allergy and asthma pills on the market that she’d been wondering about. Could this ingredient trick my body out of following the orders of our gene? We wouldn’t know for a while, but she wanted me to try it.

  I was game. Fascinated, actually. While I was convalescing after my surgery, I’d come across a movie on TV called Lorenzo’s Oil. I had heard of it, and possibly even seen it when it came out in 1992.

  Lorenzo’s Oil is a true story that sounds right out of Hollywood; George Miller, best known for directing all of the violent Mad Max movies (and incidentally the cartoon Happy Feet) wrote and directed it. It’s about a four-year-old boy named Lorenzo Odone who has been diagnosed with a genetic condition passed on the X chromosome called “adrenoleukodystrophy,” or ALD. ALD is a condition of the nervous system. Seemingly healthy children between the ages of two and fifteen experience sudden symptoms, usually marked by subtle behavioral changes.

  Women can live unaffected with a gene for ALD on one X chromosome because they have a second X chromosome for their bodies to refer back to. Thanks to the rarity of the condition, chances are most girls will never come down with the devastating symptoms. To actually become sick with ALD, a woman would have to inherit both X chromosomes from both parents carrying a gene mutation for ALD. Ninety percent of all the people who begin to show the debilitating symptoms of ALD are little boys. One of the many horrors of ALD is that these children slowly become prisoners of bodies they can’t control. Myelin, the sheath that protects the nerve endings throughout the body, begins to wear away.

  In the late 1970s, when Lorenzo Odone was diagnosed, there was no known cure, or even treatment, for ALD. Unlike children with cystic fibrosis, whose parents can at least perform daily chest percussions for their comfort, people like Lorenzo’s parents, Augusto and Michaela Odone, had no choice but to watch the body of their son grow increasingly devastated.

  The Odones were shocked to learn that no help was available for their son. Instead, they were encouraged to join a support group for parents of dying children. Researchers by profession, the Odones undertook an extensive study of the mechanism causing Lorenzo’s myelin depletion at the protein level. Over the course of a few years, they learned that the enzyme missing in ALD boys has a very similar chemical makeup to the chain of amino acids in rapeseed oil. Although whatever myelin had already worn away could never be replaced, the Odones’ discovery was a breakthrough.

  The Odones developed a method to keep any more myelin from wearing away; although this would never get their son back on his feet, it would in fact save his life. Their treatment tricked their son’s body out of continuing to do the bad things it was hardwired to do. They created a chemical compound that offered little boys diagnosed with ALD the chance to live into adulthood. They called it “Lorenzo’s oil.”

  The real Lorenzo Odone never got out of his hospital bed (ALD’s symptoms are irreversible once they begin) but he lived twenty years longer than he otherwise would have. He died at twenty-eight, reports say due to choking—not because of his ALD.

  Dr. Kricket’s plan for me to take a daily asthma pill reminded me of Lorenzo’s oil. I filled my prescription immediately.

  * * *

  Aaron had the Friday off the day after New Year’s Day, 2014. We decided to visit the Frick collection, then walk down Fifth Avenue to look at the Christmas windows. Lord & Taylor’s highlighted “the arts,” with beautiful images like the one called “film,
” where a mannequin resembling Liza Minnelli twisted animatronically in front of a vintage movie camera. Several windows down, the scene in “music” cleverly displayed dozens of shiny trumpet horns that opened like metallic flowers. The Fifth Avenue jewelry stores from Tiffany to Bulgari glittered with millions of brightly shining lights.

  After spending nine dollars on a bag of dried-out chestnuts and a bottle of water, we decided to head back to Brooklyn. As we stood on the F-train platform near Rockefeller Center, Aaron suddenly turned to me and stared for a minute. He smiled and said out of the blue, “You know, I love you very much. I love our life and I’m happy.”

  He could be effusive at times, but at this moment my stomach filled with sixth-grade butterflies and I began to blush. Then, suddenly, I felt sick to my stomach. Rivaling his romantic proclamation with one of my own, I answered dryly, “I just really hope I don’t die.”

  “Jesus, well, yeah,” he agreed, modulating his voice to the screech of metal and breaks as the train pulled up in front of us. “I’ve never had a disruption in my life like that, like you have.”

  We boarded the crowded train and stood with our faces close together. I was suddenly desperate to make an important point that had occurred to me. I squeezed his hand and looked into his eyes.

  “Promise me,” I began. “You will not fall apart.” I stared at him hard. “I need you to promise me you will go on and live a full life if I die.”

  He matched the seriousness of my gaze for a moment and then his face settled into a faraway stare. A smile played on his lips as his expression turned wistful. Then, as if he suddenly remembered I was standing there, he quickly cleared his throat and squeezed my hand. “Right. Of course, baby. Somehow . . . after a respectable mourning period, of course . . .” He cleared his throat again. “I don’t know how, but I’ll try and go on.”