Nutritionist Marcia Nielsen looks puzzled as she sums the ounces of child formula scribbled on her notebook, shakes her head and presses George's mother for details. It's just not adding up, she tells Elizab
MARK ANDERSEN AND LINDSEY RODRIGUEZ / Lincoln Journal Star | Posted: Saturday, April 5, 2008 7:00 pm
Nutritionist Marcia Nielsen looks puzzled as she sums the ounces of child formula scribbled on her notebook, shakes her head and presses George’s mother for details.
It’s just not adding up, she tells Elizabeth Ramirez.
George is 4, but he weighs just more than 20 pounds. He should be drinking 3½ cans of formula daily, but the amounts Elizabeth describes don’t seem to add up to 3 cans.
Why do you feed him for only four hours at night? Nielsen asks. Why doesn’t he feed the entire time between 9 p.m. and 6 a.m.?
Because he cries a lot, Elizabeth says through an interpreter.
“He doesn’t want to be hooked up, so I untie it and let him rest. I try to give him more during the day,” she says.
But, Nielsen questions, you give him only a few more ounces at 6 a.m. before school?
Any more, Elizabeth says, and the movement of the car causes George to throw up.
George throws up a lot. When he coughs, he throws up. When he’s too full, he throws up. When he cries hard, he throws up. When she tries to feed him all night, George cries and throws up.
And then, as if on cue, sitting on the floor of the small Children’s Hospital of Omaha clinical room, George throws up some of the canned formula he has taken through the small surgically placed port leading directly to his stomach.
Elizabeth wipes his face absently with a cloth. She wants him to eat more, she says.
The family got excited recently when George finally hit 20 pounds. He’s a good boy. These days, when his parents say it’s time to eat, George lights up and raises his shirt to expose his feeding tube.
Elizabeth hopes this annual visit to Children’s Hospital will result in another swallow study for George. She’d like to be able to give him a few Cheerios when the family sits down for dinner because he cries when the others eat. Earlier swallow tests showed that much of the food George ate normally wound up in his lungs.
Early on, George’s doctors suspected he had asthma, or flu and asthma, Elizabeth says. He cried all of the time.
“I gave him food every hour,” she says, wiping a tear.
It took more than a year to solve the swallowing puzzle. It took even longer before George was diagnosed with the rare genetic disorder Cockayne’s syndrome and longer still for the family to deal with the death sentence it carried.
The small boy can’t crawl, sees and hears poorly, has stiff joints and can barely speak. Throughout the day, he seldom strays more than a few feet from his mother’s lap.
Does parenting George ever seem easy?
“Yes,” Elizabeth says.
“But it didn’t always.”
Cathy Miller, a nurse and longtime Children’s clinic coordinator, says she once noticed only the patients. Over the years, she says, “You do start looking more at the family.”
The boys and girls could get lost in the big medical diagnoses, she says. Over the course of their daylong visits, as many as a dozen specialists might cycle through their rooms.
In the end, she says, “It’s still a child with a family.”
And while their lives seldom resemble the norm, she says, “the families create their own normal.”
Born at BryanLGH Medical Center, the third child of Elizabeth Ramirez and Jorge Ortiz, George was by most measures a healthy child, other than that he cried constantly. More problems began to appear almost immediately, and by the time he was 3 months old, his parents were worried.
An MRI at 5 months found his brain was small. He moved slowly. He had fevers. And he still cried all the time.
At 18 months, George weighed 15 pounds.
He needed surgery to correct crossed eyes. His hearing was poor. His testicles didn’t descend. His tight muscles made it difficult for him to bend even during warm baths. He couldn’t walk.
His olive-toned skin burned after 20 minutes in the sun, says Elizabeth, fetching the Coppertone SPF-50 lotion she lathers on his skin every time they go outside.
Jorge and Elizabeth sit with George in the cramped living room of their aging mobile home in northwest Lincoln. Their daughters, Ashley, 10, and Melissa, 6, work and play quietly in the kitchen.
George keeps his deep-set black eyes glued suspiciously on the strange men in the room, as if they might be doctors about to poke or prod. He flirts readily with women. George has a pronounced, angular nose, which accentuates his small but decidedly elongated head. His attributes are classic markers for his disease.
Juan Rodriguez interprets from Spanish to English for the parents, who left Mexico eight years ago.
They had never heard of Cockayne syndrome, Jorge says.
The medical literature lists the prevalence of Cockayne syndrome at likely rarer than 1 in 100,000 children, but the genetic disorder spans a spectrum from severe underdevelopment apparent at birth to milder forms, in which the most notable feature is an easy sunburn.
Cockayne results from a deleted segment or mutation in either of two crucial genes. Every person has a complement of two of both types, inherited from each parent. The presence of a normal gene of both types inherited from either parent results in a normal baby, so the disease occurs only when the set of inherited genes from both genes parents are malformed.
In George’s case, one of his defective genes is a mutation and the other has a segment deleted, said Dr. Ann Haskins Olney, a geneticist.
Parents who each carry one of the two defective genes have a 25 percent chance of passing on the disorder, a 50 percent chance of having children who are silent carriers like themselves and a 25 percent chance their children will have no risk of passing on the disorder.
The genes are related to corrective enzymes that prevent DNA mutations during cell replication, but it’s almost certain they also have other roles. If George’s problems resulted purely from an enhanced risk of random DNA mutations, he wouldn’t have the constellation of deficiencies clearly associated with Cockayne’s, which also include jovial personalities, premature aging, small heads and brains, small stature, spasticity, micropenis, rounded backs, dental cavities, progressive retinopathy and cataracts, progressive hearing loss, chronic cold feet, low body temperature, tremors, liver abnormalities, high blood pressure and severe itching.
Those with symptoms apparent at birth typically die around age 7. Those whose symptoms appear immediately after birth typically reach 12 but may live longer.
Haskins Olney says she’s able to pinpoint the genetic cause in a child with multiple birth defects in about 50 percent of cases.
In the rest, she says, “We don’t know the cause.”
Just 15 years ago, she says, there was a 20 percent chance of making a diagnosis with any certainty.
Parents usually find it helpful to know the cause, she says.
When they can see the faces of other children like theirs, they know they’re not alone.
And while there’s a huge spectrum of possible problems even after diagnosis, she says, it’s a much more finite spectrum than what they feared earlier.
Every Sunday begins with the family’s preparations for a three-hour service at Templo El Nuevo Nacimiento, or Church of the New Birth.
Elizabeth dresses up in her ruffled, long-sleeved red satin shirt, straight black skirt and black strapped shoes. Jorge dons a blue dress shirt, black slacks and tie.
George, in his father’s arms, wears an Elmo sweater, khakis, black socks and no shoes.
Elizabeth sings in the church choir, standing at the front of the church. Jorge sits in a pew four rows back. Church members walking by greet George with a handshake, a hug or a “God bless you.”
Elizabeth says churchgoers tell her there is something spiritual that George emits.
Song and praise consume the first hour of service, with drums, guitars and singers trying to shake the walls. George slips in and out of sleep. The machine connected to his feeding tube beeps, and Jorge reaches into the black shoulder bag to stop it.
George seems to grow attentive, and reaches for the toys of a child in the pew behind him. Then he reaches for the blond, curly-haired woman sitting next to him.
“He plays with me, he wants me and then he doesn’t,” she says.
Elizabeth laughs at the anecdote later.
“George likes to flirt,” she says.
“At first it was very painful to accept that our boy would not thrive,” Elizabeth says, “that he would die.”
She withdrew into her metal home to avoid the envy she felt upon seeing healthy children playing. It stung when friends gave birth to thriving babies.
Elizabeth, who cares for her children full time, says she suffered from depression after George was born, thought about committing suicide and blamed her husband, because it had to be somebody's fault.
When the weight grew too heavy, she says, the only thing saving her was God.
“He’s the only one who can help us,” Elizabeth says.
Their church opened the door for them.
Jorge, who gets disability after a fall onto his head during a construction accident last summer, no longer can work. After they turned to God, he gave up the nights he used to go to the bars.
“All the pain,” he says, “we put in the hands of God.”
Sometimes, Jorge says, people want to place blame, to know who is at fault.
“It’s not an issue of fault,” he says. “It’s God’s will. It’s nobody’s fault.”
“God loves all of my family,” Elizabeth says.
When they were having problems in their marriage, God sent George to add substance to the relationship. He brought them closer together.
Esperar, she says. To hope.
Elizabeth says she apologized to her daughters for not having more time to share with them.
“We don’t know how long he’ll be with us,” she says.
The girls have learned to love other disabled children, she says, and they love their brother very much.
“He’s an angel for our family,” says his mother. “If God decides to take him, the things not done here will be done with God.
“We realized we needed to be more united.”
She learned that if she fell, the whole family would fall. And if she’s fine, the family’s fine.
Elizabeth says she sometimes sees other families with a disabled child and thinks: God has given you a special child because you are special parents and he knew you could overcome.
“Nobody can be certain when anybody is going to die,” she says. “Show them love. Love them every minute.
“As a mother, we know when they’re born, but we don’t know when they’re going to die.”
And without love, she asks, what good is it?
Reach Mark Andersen at 473-7238 or mandersen@journalstar.com.