Our newborn's face was so disfigured, she could barely breathe. Doctors wanted to wait months to treat her, but we fought to get her the help she needed.
On November 1, 1997,our first child, Nicole, was born. My wife, Kelly, had had a perfect pregnancy. She'd felt healthy and energetic for the whole nine months; all the ultrasounds and other prenatal tests were fine. We spent lots of time shopping for baby furniture, picking out names, and wondering who our child would look like. Even Kelly's labor and delivery were easier than we had expected. We were thrilled and unbelievably excited to become parents.
But as I stood, elated, in the delivery room, I took a close look at my new daughter. Her head was indented on the left side; her eyes were misaligned and set close together. Her nose was curved to the right and shaped like a banana. "Why does her head look like that?" I asked. The nurse assured me that all babies' heads are a little misshapen when they are first born and that in a day or two she would look fine.
But I couldn't shake the feeling that something wasn't right. I asked if a doctor could look at Nicole, just in case. The first physician came in the middle of the night. He said that the soft spot on Nicole's head was unusually large but that it was nothing to worry about. In the morning, a second doctor said her sutures might be closed. I'd never heard the term sutures before. We learned that these are the fibrous divisions in a baby's skull, which are supposed to be open at birth so the skull can expand with the growing brain. But when our own pediatrician came later that morning, he said he thought the odd look to Nicole's head and face had something to do with her fetal position and that they would be normal in a few days. "Let's wait a week and we'll reevaluate her." He told us to go home, enjoy our new baby, and stop worrying.
What's Wrong with Her?
We tried to take his advice, but we were both concerned about the lack of straight answers from the different physicians who had examined Nicole. And when we got a look at the new-baby picture the hospital had taken of her, we became more and more apprehensive. Kelly and I thought we were seeing something no one else did. But our parents said they noticed it too. Because nothing had changed, we eagerly awaited Nicole's one-week postnatal doctor's appointment. We expected our pediatrician to tell us what was wrong; instead, he told us he didn't know anything more about her condition. "Let's wait three months before we start any testing," he said. "Maybe it's just taking longer for her head to move back into shape."
Three months seemed like a long time to wait when it came to our baby's health. Within weeks, Nicole's head had become dramatically longer, thinner, and more misshapen. She was having trouble breathing through her nose; the increasing bend in it left only one nostril open.
The Frightening Diagnosis
At her one-month visit, our pediatrician finally acknowledged that he thought Nicole's skull sutures might be closed after all. He sent us to a plastic surgeon, who gave her a CAT scan. The diagnosis came back: Nicole had craniosynostosis, a disease that causes the bones of the skull to fuse too early, distorting the head and face and squeezing the brain. Left un-checked, it can cause blindness and mental retardation, the surgeon told us. In Nicole's case, two of the sutures had closed: one on her forehead and one on her right temple, which explained why her face was being pulled to one side. "She's going to need surgery," he said.
We were floored by the news. Although we knew there was something seriously wrong with Nicole, we had never imagined that her condition was so dangerous. The doctor's description of the surgery scared us even more. The standard surgery for the condition involves removing part of the skull, cutting it into pieces, and fitting it back together, like a jigsaw puzzle. Dangers included blindness and even death; Nicole would be in intensive care for a week, and she'd require a blood transfusion. She'd have to have numerous plastic surgeries until she was about 6 years old. As if this weren't enough, the surgeon said he wanted to wait until she was 9 months old to perform the operation.
Then he sent us home with information on craniosynostosis, including pictures of children with the disease. I remember standing in the parking garage outside the doctor's office, looking at the pictures of children with bulging eyes and massively deformed faces, not believing what I was seeing. Kelly and I were both concerned that the doctor wanted to wait so long before the surgery. We wanted to help our daughter now.
Over the next couple of weeks, I looked on the Internet for all the information I could find about craniosynostosis. In the meantime, we had to endure visits with neurosurgeons and plastic surgeons, getting second opinions. One doctor was so insensitive that he discussed Nicole's surgery in a crowded hallway, made Kelly cry, and became hostile whenever I dared to ask him about other options. These were well-respected physicians who had helped other parents in our situation. We didn't think we could challenge their advice, but I couldn't help feeling there had to be another way.
A Fateful Phone Call
That was when I came across an article on the Internet that described a new type of surgery performed by a husband-and-wife surgical team, Drs. David Jimenez and Constance Barone, in Columbia, Missouri. The technique was performed with an endoscope, which meant it was much less invasive. By then, I was totally frustrated with the doctors we had already seen. No one seemed able to give us a straight answer about exactly how much surgery Nicole would need and how much longer we would have to wait. I felt we had nothing to lose by exploring this new option. So I called Dr. Jimenez directly.
He patiently answered my questions for 45 minutes. He seemed to understand what Kelly and I were going through. And he encouraged us to bring Nicole to Columbia so he and his wife could examine her. We knew we were risking alienating Nicole's local doctors, but it seemed worth it. So we packed up the car and made the 14-hour trip from our home in North Carolina to Missouri.
From the moment we met Dr. Jimenez and Dr. Barone, a huge weight was lifted off our shoulders. They told us exactly what they would do to correct Nicole's face and head -- and they said it should be done right away: "We can fit you in next week."
After all we'd been through, it was a little scary to make the decision so quickly. But Dr. Jimenez and Dr. Barone were both confident and reassuring. We had a good feeling about them, which we hadn't had with any of Nicole's doctors at home. We stayed up late that night discussing the pros and cons, and we finally agreed that this surgery would be the best thing for our daughter.
The procedure was set up for the following week. Before taking Nicole in for surgery, we said a prayer in the hospital chapel. We hadn't been without her since she'd been born two and a half months before, so giving her to the anesthesiologist that morning was one of the hardest things we had ever done. When we handed her over, Kelly started to cry. But just then, Dr. Barone saw us in the hallway. She hugged Kelly and said, "Don't worry. We'll take good care of her."
The surgery went remarkably well: Nicole was in the O.R. for an hour and a half, losing just a teaspoon of blood. Her face became swollen and she was in pain, so the doctors gave her some painkillers and kept her in the hospital overnight for observation. To our surprise, the next morning Dr. Jimenez said we could take her home. As we were packing our car, Nicole looked up at us and smiled -- and we knew that everything would be all right.
A Happy Homecoming
The trip back to North Carolina went off without a hitch. By the time we got home, the swelling in Nicole's face and head had gone down. We could already see a distinct change. Her nose had straightened, her eyes had separated, and her head had started to look more normal. Within the next few months, we drove back to Columbia two more times for follow-up visits with the doctors. Nicole also wore a molding helmet for about a year after the surgery to help her head grow into the proper shape. Today the only signs of her condition are two one-inch scars near her hairline.
Nicole is now an independent, funny, outgoing 2 1/2-year-old. She talks constantly, loves books, and adores the child's computer game we've taught her to play. We're so grateful to the doctors in Missouri, who helped us through one of the most difficult times of our lives. When I look back, I'm not sure how we had the strength to go against the advice of so many doctors. Educating ourselves -- and trusting our instincts -- was the key.
Often a stranger in a store will tell us how beautiful our daughter is. Kelly is especially touched when someone says, "Oh, she looks just like her mother!" That's the kind of comment most parents take for granted, but hearing it is music to our ears.
More about Nicole's Miracle Surgery
Throughout their careers, husband-and-wife surgeons David Jimenez, M.D., and Constance Barone, M.D., of the University of Missouri University Hospitals and Clinics, had performed the standard invasive surgery for craniosynostosis on countless children. Dr. Barone says the idea for the endoscopic procedure that they later began using was inspired by the birth of the couple's son four years ago. "Having my own child made me realize I wouldn't have let him go through the very procedure I had performed countless times if he had had craniosynostosis." She and her husband developed a simpler procedure called endoscopic strip craniectomy. The surgeons thread a tiny camera through a small incision in the scalp to perform microsurgery inside the head, using a video screen as a guide. Endoscopy is less expensive, reduces recovery time and blood loss, and can be performed on very young babies.