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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. By Cindy Rich
Comments () | Published June 1, 2009
“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.


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Posted at 05:00 PM/ET, 06/01/2009 RSS | Print | Permalink | Comments () | Articles