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Once You Love a Baby, You Have More to Lose

After our daughter was born, I found out I had a genetic disease—and she was at risk, too. Then life got a lot more complicated.

“When I called my parents to tell them I was scared I was going to die, they said I was being ridiculous.” All photographs by Matthew Worden

I fell in love with Haley when I felt the first flutter. It was April of last year, early in the second trimester. Before that, all of the signs had been there, but it was hard to believe somebody was actually growing inside me. Once I felt her move, I knew it was real, and all that mattered was keeping her safe.

For most of my pregnancy, everything went the way it was supposed to. Both of us passed all our tests: She didn’t have any chromosomal abnormalities; I wasn’t a carrier of cystic fibrosis or the other genetic disorders they look for. But I found things to worry about: When our dog jumped on me, I rushed to the doctor to get the baby’s heart rate checked. When I got an electric shock from a hair dryer, I was convinced Haley had felt it, too.

In my third trimester, I started calling her Little Sweets because I ate so many M&Ms that I was sure she was getting a taste. Every morning, I’d open my eyes and wait for her to kick. “Please move,” I’d say. Usually she would.

I’d stay up at night writing Haley letters—I told her about the day the nurse had looked at the sonogram and said, “It’s a little girl.”

One day in August, about six weeks before the due date, my hands and feet started itching. It kept me up all night. When I called the obstetrician, he said he wanted to see me the next day to make sure I didn’t have a liver disease called cholestasis of pregnancy.

I didn’t know what that was—I read later that it affects only about 1 to 2 in 1,000 pregnant women—or that your liver could make you itch. But that’s what was happening. At an appointment a few days later, one of the doctors in the practice said, “Your liver doesn’t like the pregnancy.”

I had what looked like mild cholestasis—my liver-enzyme levels were elevated—so the doctors would have to keep a close eye on me until I had the baby. I’d have weekly sonograms and blood tests, and the baby’s breathing would be monitored.

I wanted to fall over. I’d read about cholestasis and its connection to a higher risk of stillbirth.

The doctor explained that many of his patients like me had healthy babies. If the baby was in danger, he’d deliver her early.

This was only the beginning of a lifetime of worry, he said; just wait until you drop her off at kindergarten.

My liver problems didn’t get better, so the obstetrician scheduled a C-section for mid-September, two weeks before the baby was due. I remember asking, soon after surgery started, why the baby wasn’t crying. The doctor said, “Because she’s not out yet.” A few minutes later, he held her up and asked if I was ready to meet my daughter.

Haley weighed eight pounds and had blue eyes and a headful of my husband Chris’s dark hair. She liked to make a fist and rest her hand on her chin, as if she were thinking.

The itching stopped the day I delivered, just as the obstetrician said it would. Cholestasis is supposed to go away when the baby is born.

I spent the next month at home in Silver Spring, learning how to keep Haley in a tight swaddle and figuring out which cry meant hungry and which one meant wet. I made up songs about the places we’d take her, like the zoo to see the pandas. Chris sang her his favorite—On top of spaghetti, all covered with cheese, I lost my poor meatball, when somebody sneezed—so often that he found himself humming it around fellow social-studies teachers at school.

At my six-week followup appointment, the doctor told me I was healing well from the C-section and he wanted to check my liver enzymes one last time. I had my blood drawn and forgot about it.

The first thing the doctor said when he called a week later was that he didn’t want me to get upset. There are six doctors in my ob-gyn practice—Capital Women’s Care in Silver Spring—and this was the one who’d spent 20 minutes on the phone with me one Friday night after I’d read a scary study on cholestasis.

He said this probably wasn’t a big deal—that maybe my liver was taking longer than usual to bounce back from pregnancy. But my numbers were still high, so he wanted me to see a specialist.

The gastroenterologist he referred me to didn’t know what was wrong, so he sent me for an ultrasound and blood work to rule out autoimmune disorders.

Everything came back normal except the test for something called ceruloplasmin. It’s a protein that transports the copper in the body to the right places. We all need copper, which we get from food—shellfish, nuts, avocado, mushrooms, and chocolate have a lot of it—but too much can be toxic. The gastroenterologist explained that low levels of ceruloplasmin could be a sign of Wilson’s disease, a genetic disorder in which copper accumulates in the liver and often the brain.

“It’s extremely rare,” he said. “I don’t think you have it.”

Because my ceruloplasmin was slightly low, he wanted to check the copper in my urine over 24 hours; most people with Wilson’s have elevated copper levels. He told me he’d heard of only a few cases of Wilson’s in his career—about 1 in 30,000 people has the disease. One was a woman who didn’t know she had it until she turned yellow and went into a coma on her wedding day.

Waiting for biopsy results is agonizing: “Chris sent me flowers at work with a card from him, Haley, and our dog. What if Haley did get Wilson’s disease? What if I had cancer and needed chemotherapy?”

I’d been healthy my whole life, so I’d never thought much about my liver. I always figured it would do what it’s supposed to. But when my problems started, I happened to be working on a story about a liver-transplant surgeon at Georgetown University Hospital. I knew more than I wanted to: I knew that liver failure could come on fast.

I’d learned about a young girl who needed a liver transplant and shared the donor liver she’d received with a sick infant, saving them both. The girl had Wilson’s disease.

Someone at The Washingtonian put an article on my desk about a University of Maryland football player who had started having neurological problems—copper can build up in the brain and cause confusion and forgetfulness—and got so sick that he dropped out of college. He had Wilson’s.

Doctors had told me to stay off the Internet, but it was hard to resist. Chris would lean over and try to close my laptop.

What made me nervous was that low ceruloplasmin was connected to only a few conditions, the most common being Wilson’s disease or malnutrition—and I wasn’t malnourished.

I knew that many people with Wilson’s were misdiagnosed because the symptoms—everything from abdominal pains and jaundice to tremors, speech impairment, and psychiatric problems—can mimic those of other illnesses.

I felt good. I looked healthy. But copper can start to poison the liver without any obvious signs.

When I called my parents to tell them I was scared I was going to die, they said I was being ridiculous. Then I told them about the bride in the coma.

“Nobody in our family has ever had liver problems,” my mom said.

Wilson’s disease is an autosomal recessive disorder, which means both parents have to carry a genetic mutation in order to pass it down. My mother had been doing her research: One in 100 people is a carrier, she said, so there was a 1-in-10,000 chance both she and my dad were. Did I really think they were that 1 in 10,000?

She was so sure I didn’t have it that she bet me a trip to the Bahamas.

It didn’t matter what anyone said. I’d read that without proper treatment, Wilson’s disease is generally fatal, usually by the age of 30. I was 32.

There were certain things I always assumed would happen. I’d fall in love, get married, and have a baby. I assumed I’d be there to watch the baby take her first steps and go to her first sleepover and get nervous before the prom.

When I was growing up in Rockville and I’d get mad at my parents for asking me to call when I got somewhere, they’d always say, “You’ll see—you’ll understand when you’re a parent.” I was already starting to.

Now that I had Haley, I couldn’t imagine missing a moment. The thought that I might be sick or that she might get this disease one day was terrifying. I was just getting to know her quirks—the way she could hiccup for 12 minutes and always sneezed in threes. It didn’t seem fair that I had been given such an amazing gift and might not get to savor it.

Haley and I already had a favorite book, Guess How Much I Love You, about a father hare and a baby hare. At the end, the little hare tells the big hare he loves him “right up to the moon,” thinking that’s the most you can possibly love someone, and big hare says, “I love you right up to the moon—and back.”

When I read it, I’d see my teardrops hitting Haley’s cheeks.

While I was waiting to hear from the gastroenterologist, I’d stand in front of the mirror tugging on my eyelids, looking for the brown rings that can appear around your corneas when your body has too much copper.

By the time the gastroenterologist called to say I didn’t have Wilson’s disease, I had convinced myself I did. I’d even looked for online support groups. He said the copper test was normal and I should make an appointment in three months for more blood work but that this was probably nothing serious.

I hung up the phone and tried to take in this second chance I felt I was getting.

It turned out the gastroenterologist was wrong. I’d decided to get a second opinion—my parents always say you should do that—and the liver specialist I saw, Kirti Shetty at Georgetown University Hospital, said Wilson’s couldn’t be ruled out; my ceruloplasmin was low enough to suspect Wilson’s disease even though my copper test was normal.

Dr. Shetty did more blood work to rule out other disorders that might explain the low ceruloplasmin. She recommended that I see an ophthalmologist to be sure I didn’t have the brown rings in my eyes, which could be detected only with a special light. I didn’t have them.

Then she suggested a genetic test. I’d have to get blood drawn, and Georgetown would ship it to a lab at the Mayo Clinic in Minnesota. If I had one genetic mutation, I was a carrier. With two mutations, I had the disease. No mutations and I’d never have to think about it again.

When the author told her husband that her illness meant Haley might be an only child, he said: “Look at her. She’s all we need.”

It was mid-January when test results came back. Haley was four months old, and I was back at work. I’d leave her with my mom when I went to the office and look forward to reading the “Haley Daily” report she’d send home that night:

10 to 11 am: Haley read Dr. Seuss, played instruments, and had dance class.

11 to 12: She was in her crib but wouldn’t take a nap.

12 pm: She spit up.

When scientists sequence a gene, they look for changes in DNA coding. It’s like spell-checking a book: Spelling errors—the mutations—can cause disease. I had two spelling errors on ATP7B, the gene associated with Wilson’s disease: I had a G where there was supposed to be a T and an A where I needed a G. That meant I had the disease.

I found out that all of us carry about ten genetic mutations for rare recessive disorders, such as Wilson’s disease, cystic fibrosis, and sickle-cell anemia. Carriers don’t get sick. The only time the mutations cause a problem is when two people who happen to carry mutations for the same disease get together and have a child. Like my parents did.

When I told my mom and dad the news, they were shocked. They’d started dating in the 1960s at Wilson High School in DC. They were Wilson Tigers. They couldn’t get over the fact that their daughter now had Wilson’s disease.

The thing about finding out you have a genetic disease is that it doesn’t affect just you. We had to take my test results to a genetic counselor, who drew a family tree and talked about my relatives’ chances of having Wilson’s. My older brother was more at risk than any of them—but he turned out to have one mutation, so he’s only a carrier.

“What about my baby?” I asked. The counselor explained that Haley was automatically a carrier because I have the disease but that Chris would have to be a carrier for her to be at risk of having Wilson’s disease. There was a 1-in-200 chance that Haley would get it.

So if he doesn’t carry it, she’s fine?

“Yes,” she said. “Well … .”

There were rare exceptions. There was a small chance that Chris’s genetic test could miss something. There was also something called a spontaneous mutation, meaning Haley could get that second mutation on her own. Then again, a geneticist said later, she could also get hit by a meteorite.

I told my mom she owed me a trip to the Bahamas. She said she knew she never should have married my dad.

Dr. Shetty said the next step was a liver biopsy. I didn’t like the idea that she’d be putting such a long needle into a vital organ, but that was the only way to find out how much copper was in my liver and whether there was any damage.

A few days before the biopsy, I went back to Georgetown Hospital, this time for an annual mammogram. I’d started getting mammograms at 30 because I have a family history of breast cancer. I walked out of the exam hoping this meant one less thing to worry about.

When the mammogram came back abnormal, my imagination went wild. Maybe I had liver cancer that had spread to my breast.

The mammogram showed a cluster of calcifications, tiny bits of calcium that can be a sign of cancer. They had nothing to do with Wilson’s—it was just bad timing.

Calcifications are different than lumps—you usually can’t feel them. The breast surgeon, Dr. Marie Pennanen, said that if this cluster was cancerous, which it probably wasn’t, we’d caught it early.

“I had a baby in the fall,” I said. “Couldn’t this be related to the pregnancy?” Possibly, she said, but it wasn’t likely. She’d need to do a biopsy.

I went online—the same mistake I’d made before—and found a study that said women had an increased risk of breast cancer after childbirth. I was awake at 3 in the morning, watching Chris sleep, wondering if he’d have to raise Haley without me.

All I wanted was time. I wanted to tell whoever was deciding that I’d give up every single thing I had and never complain a single time for the rest of my life if I could just have more time with my new family. More time with this little person who had brought me more joy than I’d ever felt before.

I went around the house that week decluttering closets and ordered a new couch. I polished off a few bags of peanut M&Ms. I started praying.

Waiting for biopsy results is torture. People around you don’t know you’re waiting for what feel like life-or-death results, so they don’t know why you’re acting funny.

Chris sent me flowers at work, with a card from him, Haley, and our dog. The fear was always there. What if Haley did get Wilson’s? What if I had cancer and needed chemotherapy? Once you love a baby, I realized, you have more to lose than ever.

I saw the breast surgeon on a Tuesday morning, and my mom came with me. The doctor opened the door to her office and said, “I have good news.” My mom, a breast-cancer survivor, teared up.

Dr. Shetty called the same day. The biopsy was back: I had about five times more copper in my liver than I should have.

“It’s quite high,” she said.

But I didn’t have liver damage. She’d never seen a patient like me, she said, someone who had Wilson’s disease but no symptoms. We’d caught it very early.

“I know it’s hard,” she said. “But try to look at this as a good thing.”

I’d need to take an orange capsule, a form of zinc to block copper absorption, three times a day for the rest of my life. I’d need a blood test every few months and I’d have to avoid foods high in copper. I’d need to keep my liver in the best shape possible, so no alcohol.

Life would change. I’d be depending on medication to keep me alive, but lots of people have to do that. I wouldn’t need a transplant, and I wasn’t dying. If it hadn’t been for the cholestasis, I wouldn’t have known that anything was wrong with my liver—maybe until it was too late. The pregnancy might have saved my life.

After the diagnosis, I stood over Haley’s crib and promised her I’d always take care of her. I wanted her to know that even though she’d seen me crying, I was strong and I wasn’t going anywhere.

I started holding her extra tight. After her last bottle at night, I’d keep her on my lap, kissing her head as she fell asleep. Life is all about moments, a friend had told me. I was going to start treasuring mine.

I needed someone to tell me Haley wouldn’t get sick. I finally understood what my mom had said when we’d talked years earlier about doing genetic testing for breast cancer: She couldn’t stand the thought of passing something on to me.

When I told Haley’s pediatrician I had Wilson’s disease, he said he remembered hearing about it in medical school.

Chris said he’d get the test for Wilson’s whenever I wanted him to. But I couldn’t ask him to do it. I wasn’t ready. I’m still not.

Chris and I spent our first weekend away from Haley a few months ago when we drove to Yale to see Michael Schilsky, an expert on Wilson’s disease.

Dr. Schilsky gave me tests I hadn’t had before: Touch your finger to your nose. Walk a straight line. Neurologically, he said, I looked perfect.

I told him I’d been forgetting spellings and that whenever I blank on a word, I wonder if it’s copper affecting my memory. The doctor said I couldn’t blame that on Wilson’s: “We call that baby dementia.”

Schilsky said the cholestasis was probably a manifestation of Wilson’s disease. I asked about having another baby, thinking I knew the answer. I’d told Chris when I found out about the Wilson’s that this probably meant Haley would be an only child. “Look at her,” he’d said. “She’s all we need.”

The doctor told me lots of women with Wilson’s disease have children—as long as I stayed on the medication, which is considered safe during pregnancy, there was no reason not to. He said I needed a bone-density test because Wilson’s increased my risk of osteoporosis. I asked what would have happened if we hadn’t caught this disease. When would I have gotten sick? Probably before I turned 40, he said: “You’re one of the lucky ones.”

“What about kids?” I asked. “How do kids with Wilson’s do?”

“Fantastic,” he said. If Haley did have Wilson’s, she could start medication—probably the same one I’m on—before she developed symptoms. Doctors wouldn’t start treating her until she was at least three years old.

Schilsky’s words ran through my head the whole trip back to Washington: Fantastic. They do fantastic.

It was raining when we drove home from my parents’ house that night after picking up Haley. I sat in the back with her singing “Twinkle, Twinkle, Little Star.” Ever since she was a newborn, she’d stop crying at the first verse.

I rested my head on the pink blanket covering Haley’s legs and watched her as she drifted off. For the first time in longer than I could remember, I felt like she would be okay. And thanks to her, so would I.

This article first appeared in the June 2009 issue of The Washingtonian. For more articles from that issue, click here.

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