By Kerry Fehr-Snyder
The Arizona Republic
Feb. 16, 2002

Most new parents are excited to share the news of whether their newborn is a boy or girl.

But for Adina and Robert Hayton of Mesa, the joyous occasion turned into a nightmare.
"It was very scary, it was very embarrassing and we asked for people to stay away from the hospital," Adina said. "They told us at the hospital not to call the baby 'her' and to instead say 'the baby' or 'our baby.' "
The gender confusion was a result of Baby Hayton being born with a rare disorder known as congenital adrenal hyperplasia, which sometimes causes ambiguous genitalia.
Born in September, Baby Hayton was not screened for the disorder, which occurs in 1 out of 15,000 births. But starting this month, babies born in Arizona will automatically undergo the potentially life-saving test.
"It's exciting for us in that we'll be able to pick up these kids right away before they get really sick," said Dr. Khalid Hasan, a pediatric endocrinologist at Phoenix Children's Hospital.
On Feb. 1, the state health department began screening newborns for CAH, which can lead to mental retardation and even death if not treated with daily medication.
The new test marks the first newborn screening added to Arizona's testing program since it began in 1994. The state already tests babies for seven other disorders, including hypothyroidism and sickle cell anemia. With the recent opening of an obstetrics department at Del E. Webb Memorial in Sun City West, all Valley hospitals also offer newborn hearing tests.
Like the other genetic tests in the state's screening program, nurses prick each newborn's heel and squeeze blood onto a card that is later tested at the Arizona health department's lab. The blood is drawn before the baby is released from the hospital.
"It's one prick and five drops of blood, so we don't have to take any extra blood from the baby," said Ruthann Smejkal, program manager of the newborn screening program.
Ideally, the sample is taken 48 to 72 hours after birth, time enough for the stress hormones from birth to have subsided. Taking blood earlier than that often produces readings that show CAH is present even when it isn't. A follow-up test is needed to confirm the results.
In some ways the test is more crucial for baby boys than girls. Boys don't have any outward signs of the genetic disorder, which is caused by the adrenal glands not making enough cortisol and, in some cases, aldosterone, both of which are hormones. The body also may produce too much androgen, a class of male hormones. In the worst cases, children also suffer from "salt wasting" that leaves them dehydrated.

The only indication that boys are afflicted with the disorder usually comes five to 10 days after birth, when they face a crisis that can include dehydration, lethargy, poor feeding, cardiac arrest and even death.
Girls, who may exhibit similar symptoms, can be easier to spot because they may be born with ambiguous genitalia and require surgery.
That's what happened with Baby Hayton, now 5 months old.
Born Sept. 6, Baby Hayton had no vaginal opening, something doctors initially didn't notice. They told her parents that they had a baby girl.
But seven hours later, doctors returned to tell the couple that something was wrong and that the baby may have one of four disorders.
That's when hospital staff suggested the couple not refer to the baby as a girl and instead use more general terms, such as "the baby."
Adina refused, insisting that she knew she had a baby girl and would call her Savannah. Robert demanded an ultrasound, which revealed their newborn appeared to have a uterus and ovaries.
Doctors told the couple that Savannah may have CAH but could have three other disorders, including ones associated with mental retardation. It took eight days for the results of blood work, which confirmed that Savannah had CAH.
"Out of the four bad cards, we were dealt the best," said Adina.
Savannah's diagnosis prompted the Haytons to get their nearly 4-year-old son, Jake, tested. Like his baby sister, Jake had CAH. His pediatrician had missed the symptoms. Eventually, it became apparent something was wrong. The little boy grew a whopping seven inches in five months because his body was producing excess testosterone.
Adina's oldest child, Morgan, was not affected by the disorder. Both younger children must take medicine to replace cortisol and aldosterone three times a day. Savannah also is undergoing surgery in March at Cornell Medical Center in New York City to correct her genitalia.
Meanwhile, Adina said she is anxious for gene-therapy experiments to produce a long-term solution that will save her children from taking medication for the rest of their lives.
She's also happy that all newborns are being tested for the disorder so they can receive early treatment.
"I'm hoping that no parent will ever have to go through this," she said.
Reach the reporter at (602) 444-8975.