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RARE DISEASE MAKES BOY DIAMOND IN A ROUGH SPOT

Five-year-old Garrett Lee Thomas loves rock 'n' roll, boating and watching "The Three Stooges" on television. He goes to preschool and is excited about starting kindergarten this fall.

He is, in fact, so active and full of fun, it is hard to tell that he suffers from a rare genetic metabolic disease called cystinosis and must be monitored year-round by a nephrologist, endocrinologist and geneticist at Kaleida Health's Children's Hospital.

He also is seen by an ophthalmologist at Millard Fillmore Hospital and is being followed by a specialist in metabolic disorders at the National Institutes of Health.

"Garrett's personality makes his symptoms not so obvious," noted his father, Larry.

"We decided early on to be as normal as possible, to make life very rich and not be pulled down by Garrett's cystinosis," added his mother, Lynn.

Fewer than 400 people in the United States are known to have cystinosis, which primarily affects children and causes cystine, an amino acid, to accumulate in crystal form in various organs of the body -- including the kidneys, eyes, liver, muscles, pancreas and brain -- slowly destroying them.

For the Thomases, of Orchard Park, this means constant vigilance, including giving Garrett four different drugs four times a day -- one to help break down the cystine crystals, the others to treat the renal component of his disease.

Lynn, a Kaleida Health computer systems analyst, and Larry, owner of a billing service that processes medical claims, have devised a way to do this, liquefying the pill and powder medications so that Garrett can take them orally.

The four years since his diagnosis have been "healthy" ones for Garrett -- a fact for which the Thomases thank both an alert nurse practitioner at Orchard Park Pediatrics and the medical staff at Children's.

"Garrett was diagnosed when he was a year old," his mother said. "With many children, it takes seven or eight years before it gets figured out. Since damage is significant by the time a child is born, you can imagine how ill a child is by the time of a late diagnosis."

Garrett was born Feb. 12, 1996, in Buffalo General Hospital, with an umbilical cord "that had two, not three, vessels, which is an indication of kidney issues," his mother said.

His sucking reflex was weak, and he soon developed difficulty swallowing. By the time he was six months old, he was refusing baby food, requiring more and more liquid and not growing at a normal rate.

A nurse practitioner at Orchard Park Pediatrics thought Garrett could be suffering from "failure to thrive." Special blood tests indicated a renal condition known as Fanconi syndrome, and Garrett was seen immediately at Children's.

"Children's walks on water," Lynn Thomas said of her son's cystinosis diagnosis at the age of one year and the care he has received through the hospital. The diagnosis was made on the West Coast but initiated by Children's.

Garrett is treated, three to four times a year, in Children's metabolism program, kidney center and feeding disorders clinic.

Because his disease robs essential nutrients from his bone marrow, he remains small for his age and may be a candidate in the future for growth hormone treatment. He probably also will require a kidney transplant.

"When Garrett was first diagnosed, we thought the disease was 100 percent fatal," said Larry Thomas. "But a nephrologist at Children's told us that strides were being made, and that there were things we could do."

In addition to keeping in touch with the National Institutes of Health specialist in metabolic disorders, Garrett's parents are active in a national effort to promote more cystinosis research.

Lynn Thomas compiled a cookbook, "Garrett's Grub," to help raise funds for research. Published two years ago, it sold out in nine months, raising $8,000.

Garrett, whose medical condition makes him crave salty foods, likes a certain lasagna recipe on its pages. Although he eats very little, he also is fond of a cheese pizza made at a Pizza Hut in Blasdell, and steamed clams.

What is his prognosis?

"The fact is, he will die, and he will die before either of us," his mother said. "He could live to 19 or 20, or to 30 or 40, depending on research and new treatments.

"What we do to deal with this is, appreciate what we have -- and live today for today."

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