Jessica’s Tale: ‘My Tummy Doesn’t Work’ : La Mesa Girl Is One of Only Six in World with Rare Disorder
“I get amazed all over again when I talk about her,” said Greg Roel of his 6-year-old daughter Jessica.
“Jessica is rather unique,” said Y.K. Leung of the International Institute for Infant Nutrition and Gastrointestinal Disease at Children’s Hospital in Buffalo, N. Y. Leung took a deep breath and gave this description of Jessica’s disease: “Neurogangliarnomotosis leading to secondary villus atrophy.”
“Wow, that sounds like a pretty rare disorder,” said Joan Chamberlin, the deputy director of information for the digestive diseases section of the National Institutes of Health. “It’s not in any of the textbooks on gastroenterology.”
“Jessica is probably part of a syndrome,” said Dr. Thomas Self, the chief of pediatric gastroenterology at the UC San Diego Medical Center and Children’s Hospital. “She does have some other unusual findings that make us feel the intestinal portion is part of the puzzle.”
Says Jessica, simply: “My tummy doesn’t work.”
Everyone agrees why Jessica’s tummy doesn’t work. The tiny, feather-like villi that line the small intestine and absorb nutrients from digested food are missing in Jessica, which means she cannot eat.
Since she was 3 months old, Jessica has been fed intravenously. According to gastrointestinal specialists, she is one of six or fewer children in the world known to have the condition, and the only one in the United States.
Most people who hear of Jessica’s problem think it is catastrophic. The Roels, who live in La Mesa, don’t think so.
“We’re just normal parents in an abnormal situation,” said Greg Roel, a 33-year-old specialty food salesman. In fact, he said, they have managed to redefine “normal” for their family.
“As far was we’re concerned, ‘Hey, kids don’t come with tubes? What’s wrong?’ ”
Jessica, the first child of Greg and Becky Roel, weighed a critically underweight 4 pounds, 1 ounce, when she was born June 9, 1982. A week later, the Roels brought Jessica home, but soon noticed some problems.
“She grew, but she did not grow at the rate she should have,” Becky said. “She was only 17 1/2 inches long . . . by Sept. 19. She was only 5 pounds, 15 ounces.”
The Roel’s pediatrician sent them to a growth specialist at UCSD.
“Two doctors examined her and came back with, ‘You must have smoked and drank when you were pregnant.’ I said ‘You got the wrong person here,’ ” Becky said.
Several weeks later, the Roels visited Becky’s mother and father in Redondo Beach. Jessica lost 8 ounces in two days. The Roels rushed to San Diego and, after a series of tests and biopsies, doctors discovered that her intestinal villi were missing. The only explanations doctors could give for Jessica surviving her first three months is that there may have been a “variant” of villi remaining after birth.
Slept by Her Side
Jessica, with Becky sleeping on a cot by her side, spent the next 84 days lying in the hospital.
“She was hungry,” Becky recalled. “I spent five days rocking and bouncing her. Then they gave her some formula that went right through. They hooked her up to hyperalimentation (liquid nutrition) and interlipids (fats). It was scheduled for six weeks.”
When six weeks dragged into eight and then nine with no change, the Roels wanted to go home.
“We finally said, ‘Hey, wait a minute here.’ We got out two days before Christmas,” Becky said.
The Roels trained with technicians and pharmacists to learn how to hook Jessica to the IV pumps. It wasn’t hard as some might assume. In fact, according to Geoffrey Fenton of Baxter’s Caremark home-care unit, which delivers Jessica’s nutrition, nearly 10,000 people in the United States receive TPN at home for a variety of reasons.
Now, Jessica is hooked to her pump, which she has named Ivan, every evening. The connection process takes her mother about 10 minutes. She injects vitamins and an anti-coagulant into the bag of fluid, runs the tube through the pump and hooks it into the semi-permanent catheter that has been threaded through Jessica’s jugular vein into her left ventricle and out her chest.
In the 12 hours Jessica is connected to the IV she will receive 1.5 liters of liquid directly into her veins.
Greg Roel says his daughter receives no feeling of fullness and is not hungry during the day. Because she has never eaten, Greg said, she cannot discern flavors.
“She was at school and they had a thing where the kids were supposed to tell lemon and lime and what they taste like, but she has never had them so she doesn’t know,” he said. “She can’t associate the smell with the flavor, although she can now tell you that her tongue tastes like pink bubble gum.”
Dr. Self believes Jessica is physically underdeveloped but mentally “all right.” A recent evaluation by Jessica’s future kindergarten deemed her average mentally. “You don’t know how happy I was to have somebody tell me I’ve got an average kid,” Becky Roel said.
Jessica suffers from a speech defect her parents attribute to lack of muscle development in her jaw and tongue from not eating, which Dr. Self suspects is neurological. But she speaks a language familiar to any parent of a 6-year-old. She giggles uncontrollably at “knock-knock” jokes of her own creation and frequently asks visitors if they are “hose heads,” a term Becky is trying to expunge from her vocabulary.
The longest Dr. Self knows of a person living on TPN is eight years, but he said Jessica could theoretically live a normal life span subsisting only on TPN. Still, her prognosis is unclear.
No Emotional Impact
Emotionally, her condition seems to have had little effect on Jessica.
“Were you expecting a sickly, little, fragile child?” Becky asked. “Well, not in this house. This has never been a bad thing for her. We don’t sit around and say, ‘Oh, this is awful.’ ”
“Her machine is her buddy,” Greg said. “The other day she asked what happens if we have a fire. How does she get Ivan out? She’s excited about me pulling up the carpet and laying hardwood floors so she can push Ivan around.”
Jessica attends a parochial kindergarten. . The Roels opted for private schooling after local public school officials wanted to send Jessica to a special school for autistic and mentally handicapped children. They plan to continue private schooling through high school, despite a state law that provides for free public education for handicapped children in either the classroom or at home.
Now that Jessica has begun to have contact with other children, she has questions.
“She was standing in front of the mirror,” recalled Becky. “She said ‘When am I going to get rid of this tube and look like other kids?’ I said, ‘You may never get rid of it.’ She shrugged her shoulders and said, ‘Oh, OK.’ ”
Jessica seems more bored with her condition than worried. If pressed, she will demonstrate on a teddy bear where she has had her half dozen operations and she will tell you which stuffed animal was given after which surgery, but that’s about it. She’d rather talk about her stuffed toy.
The Roels have had some help in coping. Since iron is difficult to absorb, Jessica battles anemia. A close friend with the same blood type donates packed red blood cells twice a year to boost Jessica’s count.
The IVAC corporation, maker of Ivan, has donated the $4,000 machines. San Diego radio station KGB helped the Roels finance a trip to Buffalo in 1986 to see specialists.
Greg credits his employer, Young’s Market Co., with helping him remain insured. As of November, Jessica had racked up $815,000 in medical expenses. Her bags of TPN alone run nearly $1,000 a week. Insurance caps out at $1 million, less than three more years at this rate. As a contingency, Greg has been contributing to California Children’s Services, which would have assumed the expenses until Jessica reaches 18. But as of March 23, they were dropped by CCS; the Roels plan to appeal.
Limited Social Life
The Roels say their social life is mostly limited to entertaining friends at home. The last time they were alone together was “a couple of months ago when we went out to lunch.” Becky admits to some feelings of anger and resentment, especially during the year Jessica was hooked up 24 hours per day.
“I’ve had people tell me that God just knew we were special,” said Becky. “He knows what a strong marriage we have. I say God did not do this. I despise it when I hear that we’re special because we have the strength to handle it. I don’t want to be special anymore. There are plenty of other mothers who could handle it. I was brought up that anytime I needed anything, there was Mom. Anything your kid needs, you take care of it, whatever you have to do, whatever it takes out of you.”
They speak of another responsibility.
“It’s our job to keep her from being used as a guinea pig,” said Greg defiantly.
Although the Roels have high praise for Dr. Self, their pediatrician, and the staff at Children’s Hospital, they have occasionally had stormy relations with physicians. “We have a terrible reputation,” Greg Roel said.
“We have the reputation that we do spout off and we’re not intimidated by anybody who has a different education,” Becky Roel said. “We don’t think that they are not on our side. All we demand is that they treat us like humans, not some peons . . . . Give me all the details and we’ll decide what we’re going to let you do to her.”
They have also been frustrated by a stream of specialists offering new hope.
“You learn pretty quickly that when a doctor says, ‘We think we’ve got it, she’ll be fine in a week,’ not to get all excited,” Becky Roel said. “Because then nothing happens and you get down so far it’s hard to pull yourself back up to normal.”
The Roels admit to feeling resigned.
“Greg and I have both decided that this is the way it is, this is the way it’s going to be for the rest of our lives.”
Still, the Roels feel they are lucky.
“If you ever start feeling sorry for yourself, go to a pediatrics ward,” Becky Roel said. “During all that first time in the hospital, we met seven other families whose kids aren’t alive today. They’re all gone . . . We went to Christopher’s funeral. He was 3 1/2 years old and died of cancer.
“He had a little, short, light blue casket. He was buried on a hill near the children’s cemetery. We walked through there and all these doctors and nurses at the funeral were walking through the cemetery looking at the small headstones saying, ‘Remember him? Wasn’t he a doll? Wasn’t she cute?’
“This is nothing!”