GIRL WITH RARE LIVER DISEASE TAKES LIFE DAY AT TIME

PERRYVILLE -- For 5-year-old Emily Jones, life has been a constant ordeal, with repeated hospital stays and foul-smelling medicine.

The Perryville girl suffers from Ornithine Transcarbamylase Deficiency, a rare liver disorder. Less than 300 people in the nation have been diagnosed as having it, said Bernice French of Perryville, the child's maternal grandmother.

The liver condition, caused by a defective gene, results in a build up of toxic ammonia that can cause a coma, permanent brain damage and even death, French said.

Symptoms include lethargy and increasing sleepiness, unresponsiveness, poor appetite, irritability, difficulty walking, hostility and mild seizures.

Emily has had the liver problem since birth, although it was only diagnosed last August.

"She had quite a few ear infections, and she had pneumonia and that type of thing," recalled Jean Jones, Emily's mother.

"When she was a baby, she would throw up her formula a lot. Then she would get real lethargic and she would sleep, and then sometimes she would be fine for another two or three months," said Jones.

Sometimes, Emily would wake up and be violent and combative, she said.

"I first really noticed it when she was in the hospital with pneumonia when she was about a year or a year and a half old," said Jones.

At the time, she thought it was just an allergic reaction to medicine. Jones said that she would give her daughter medicine when she caught colds.

What Jones didn't know was that such normally minor illnesses only aggravated the situation.

Jones said her daughter lacks a sufficient level of an enzyme that helps in excretion of ammonia from the body.

French said that her granddaughter would at times seem to be having "a glorified temper tantrum."

She said Emily would seemingly be almost in a trance. "She lost control of her body movements, her arms and legs twitched. She would walk like she was drunk.

"We just thought it was a behavior problem," said French.

Although Emily was in and out of hospitals in Perryville and Cape Girardeau, the liver disorder was not detected.

It wasn't until August when doctors at Cardinal Glennon Children's Hospital in St. Louis discovered the problem.

Jones recalled her daughter was "so violent and out of control" on the evening of Aug. 11 that she was taken to Perry County Memorial Hospital in Perryville and then transferred to Cardinal Glennon.

Jones said her daughter was admitted to the St. Louis hospital around 1 a.m. on Aug. 12. Within two days, she said, doctors had determined Emily was suffering from the rare liver disorder.

Emily remained in the hospital for a week.

Since then, she has been restricted to a low-protein diet and must take two kinds of medicine, one of them an experimental drug developed and supplied by a doctor at Johns-Hopkins Medical Center in Baltimore.

The foul-smelling, foul-tasting medicine proved too much for Emily to take orally. "It is a powder and no matter what you mix with it, it does not mask the taste or the smell," said Jones.

Emily returned to the St. Louis hospital in mid-November. On Nov. 23, a tube was inserted in her stomach so that the medicine could be dispensed directly. Emily remained in the hospital until Dec. 5.

Later in December, she briefly returned to the hospital for blood tests.

Emily suffered another bout with the liver disorder earlier this month. On Jan. 3, Jones brought her daughter back to Cardinal Glennon.

"She caught a cold and she was vomiting and that is one of the first signs, because anytime she throws up, then her body starts breaking down what protein it has stored in her tissues and that makes her ammonia go up," explained Jones.

On Thursday, mother and daughter returned home.

French said any infection, however slight, could put Emily back in the hospital.

"When she gets highly toxic, she needs treatment right away," said French.

Jones said, "Even with the diet and the medicine, there is no guarantee that she will not get into trouble again."

In severe cases, patients may undergo dialysis and liver transplants.

So far, Emily's doctor has not felt such treatment is needed.

"She is one of the lucky ones. She is not as bad off as she could be," said Jones. "Her doctor told us that with male babies, they generally only live a few days."

Jones said, "The doctor was very optimistic back in November when we were here."

The drugs and low-protein diet have for the most part helped keep Emily's ammonia level under control, she said.

Jones said her daughter's hair is getting thin, one of the side effects of the low-protein diet.

"She can't have meat, cheese, any kind of dairy products," said Jones.

"She basically eats vegetables, fruits, and lots of fats, because they (the doctors) want her to gain weight. She has lost some weight since she has been sick."

Jones said her daughter has adjusted well to the diet and the numerous hospital stays.

But Emily, who turned 5 in October, doesn't really understand her medical problem.

"She doesn't really understand. She thinks sick is like when you are throw-up sick," said Jones.

Emily has no memory of her actions when she gets sick, said Jones. "When she feels good, she is a very happy child and full of energy."

The medical problem has put a burden on the family, which is trying to make ends meet on very limited income.

"It really has been a hard time since August," said French.

Jones' husband, Tim, used to be a self-employed maintenance man. But he has been unemployed for months.

Jones is employed at a nursing home, but she has been unable to work regularly because of the repeated trips she has had to make with her daughter to the hospital.

"Whenever I am not working, there is virtually no income at all," she said.

Emily's medical bills are being paid by Medicaid, but the family bills continue to pile up.

In addition to Emily, the family includes a 2-year-old son, Nathan. Jean Jones' 12-year-old son lives with another relative.

"It's pretty hard on the family. It is hard on me," said Tim Jones. "I have no job and it makes it that much worse.

"We are in bad shape all the way around," he said.

French has set up a special fund at Mercantile Bank in Perryville to help the family. Contributions can be made to Mercantile Bank, P.O. Box 190, or to French at P.O. Box 535, Perryville, 63775.

Tim Jones said the family is hoping for a miracle.

Said Jean Jones, "We just take one day at a time and hope for the best."