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SHE'S WORTH IT'Surgery mends Hamden infant's disorder
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HAMDEN — Kaye Colello keeps a small box of light blue baby clothes on the top shelf of her closet. The clothes are sealed in plastic baggies, to preserve them forever. Beneath them is a piece of construction paper, and happy letters spell out a name: "Biaggio" Tears run down Kaye's face when she touches the sign. "I feel as if I lost a boy," she said. A few feet away, Christianna Faith Colello sits on the floor, bouncing and laughing to an Elmo video. Christianna, now 8 months old, is unaware that the blue clothes and sign were once hers. For the first five months of her life, Christianna was Biaggio. A genetic disorder made her look anatomically male, but internally, biologically, she was female. Surgery corrected her organs and she became Christianna. Kaye and Joe Colello did not know they each carried a recessive gene that would cause their second child to have ambiguous genitalia. Their oldest daughter, Gabriella, was healthy when she was born. When doctors looked at her child with ultrasound and told her she was having a boy, she believed them. Unlike the Colello's, doctors say most parents are too ashamed to talk about the genetic disorder, even though it affects one in every 10,000 to 20,000 newborns. The embarrassment, medical experts say, comes from both the taboo subject of infant genitalia and the desire of every parent to have "the perfect baby." "Throughout pregnancy there's so much concentration on colors and sex — 'Is it a boy? Is it a girl?' Then the child is born with a physical anomaly that has a sexual connotation to it. The mind races — 'What does that mean? Is my kid a freak?' Parents feel helpless," said Cathy Kelly, a surgical nurse practitioner at Cornell University Hospital in New York, where Christianna had her surgery. But the Colellos aren't embarrassed. In fact, they want everyone to know their story. They don't want money. They don't want pity. They want you to know this disorder exists. And to know their daughter is normal. "My daughter is a girl. She is a female child. Period. I don't want her to feel different," Kaye said. Christianna's condition is called Congenital Adrenal Hyperplasia, or CAH. The disease occurs when the adrenal glands, a pair of golf-ball sized glands near the kidneys, cannot make cortisol, a hormone that controls body energy, sugar levels, blood pressure and physical stress. CAH also blocks aldosterone, another hormone produced by the adrenal glands that helps maintain salt levels in the body. When the adrenal glands can't produce cortisol and aldosterone, they end up overproducing androgens — male hormones. As a result, female newborns with CAH are born with masculine looking external genitals because their bodies are producing too much androgen. The clitoris of a female newborn is enlarged and can look like a penis, and the labial folds are joined and wrinkled resembling a scrotum. Male newborns with CAH show no physical signs except occasionally some dark pigmentation around the genitalia. An infant who can't retain salt becomes violently ill in the first few weeks of life. Vomiting, poor weight gain, drowsiness, diarrhea, and dehydration. Sick infants with CAH can go into shock, or adrenal crisis and without proper treatment they die. Kaye Colello knew something was seriously wrong hours after her child was born at Yale-New Haven Hospital. "By evening, he was throwing up bile because he couldn't move his bowels," she said. The Colellos newborn was rushed to the Neo-Natal Intensive Care Unit, where he was stabilized but remained seriously ill. There was another problem. Doctors couldn't see or feel the testicles of her son. Tests were ordered to see if the testicles were in the abdomen and simply hadn't emerged, a common occurrence in newborn males. The results came back about five days later. Kaye was home when she got the call from her doctor. He wanted her to come back to the hospital. She demanded to know what was wrong. "They found a uterus," Colello recalled the doctor saying. "It was the shock that was the worst. From the fourth month, I was told I was having a boy, began bonding and naming a boy. Imagine having a son...then losing him." Kaye said she'd never forget that day. It was raining. She spent most of it crying. Her husband still has trouble talking about it. The Colellos' pediatrician referred them to Cornell University Hospital, where doctors scheduled Christianna for surgery in October. The doctors there will follow Christianna's health for the rest of her life. Maria New, considered the world's leading expert on CAH and one of the doctors who reviewed Christianna's surgery, said Christianna could have been born a girl if she had a pre-natal diagnosis. Pre-natal treatment can halt the excessive flow of androgens and prevent a female fetus from forming external genitalia, New said. "It's the only disease that pre-natal treatment can cure," she said. But the pre-natal treatment is given only to mothers who know they are at risk for CAH. Both they and the baby's father have to carry the CAH gene and the only way to know that is through genetic testing. "That's not something that's done routinely," said Scott Rivkees, a doctor at Yale-New Haven Hosptial who specializes in hormonal disorders. "There's no routine (pre-natal) screening even for the more common recessive disorders . . . like Cystic Fibrosis. Maybe some day down the road." Yale-New Haven does screen newborns for CAH, as well as other disorders such as sickle cell anemia and hypothyroidism. Connecticut is one of 20 states that requires CAH screening. The screening particularly helps baby boys with CAH, who do not have unusual genetalia that can act as a warning signal to doctors, Rivkees said. Kaye and Joe Colello never heard of CAH before Christianna was born and had no idea they were carriers, especially since Gabriella was unquestionably a girl. For the next two weeks, doctors taught the Colellos how to medicate Christianna and inject her with cortisone if she went into shock. The Colellos brought their child home after about two weeks and started thinking of a new name. Christianna Faith was born. Kaye said Joe's family has been supportive, but somewhat bewildered, about Christianna's condition. Kaye's parents are deceased and the rest of her family live in California. Emotionally, the couple depends on each other. Kaye turned to the internet to learn more about the disorder that affected her child. She said she found some good internet sites, but she also found sites that criticized parents who performed genital surgery on infants, some likening it to mutilation. Kaye has no doubt she made the right decision. Christianna will menstruate and be able to have children, her doctors said. She must undergo surgery again this year so her doctors can see if she is healing properly. She may need another operation when she hits puberty. Meanwhile, Christianna needs a prescription formula that costs $45 a can. Without it, she can't hold down the medicines she needs to survive. The Colellos spends almost $200 a month on the formula and their health insurance company reimburses them for the costs. The family pediatrician said Christianna probably will need the formula until she's 18 months old. Renovations to their home stopped when Christianna was born. Moldings in their living room stop in the middle of the wall, and blankets cover the windows — there's been no time or money to shop for curtains. Joe tries to work extra hours for the Hamden Public Works Department. But he's the snow plow driver, and the mild winter melted his opportunities for overtime pay. Gabriella, now 3, has stopped asking where her baby brother went and if he was coming back. She named one of her dolls "Biaggio" and knows now that she has a little sister, Kaye said. Kaye schedules her day around Christianna's feeding and medical schedule. She has to keep Christianna away from people with colds. The flu, a 101-degree fever, vomiting or diarrhea could send her into adrenal shock, Kaye said. Copyright © 1995 - 2002 PowerAdz.com LLC. All Rights Reserved. |
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