Nine-year-old Amy Shaw won't be eating heart-shaped goodies on Valentine's Day. But, like the candy, a gift from her dad will carry an obvious message of love.
Through surgery at the University of Utah Medical Center, Gary Shaw will donate one of his kidneys to Amy - his way of prolonging his daughter's life.Shaw's youngest daughter, 7-year-old Emily, will be focusing her big blue eyes on her sister's recovery. Soon she too could also need a new kidney.
Both Salt Lake youngsters suffer from cystinosis, a rare disease that destroys some of the body's organs. Only about 200 American children are victims. Five are Utahns; two are members of the Gary Shaw family.
"When they diagnosed Emily, I went through a period of resentment, questioning, `Why is this happening to us again?' " their mother, Kathy, said. "Of course, the laws of nature - they just happen. If both parents are carriers, there's a one in four chance that any child they have will get the disease."
The Shaws defied the odds. Two of their four children were diagnosed as having cystinosis.
Dr. Miriam C. Turner, a pediatric nephrologist at the U. Pediatric-Adolescent Renal Division, describes the disease as a malfunction of the protein transport system, which causes the cystine amino acids to build up and crystalize within the cells of certain organs. Usually the first organs to malfunction are the kidneys.
When Amy was born, a child with cystinosis had a life expectancy of about 10 years. Now, thanks to the success of kidney transplants, some have lived into their 20s.
Yet their lives are anything but problem-free.
Cystinosis causes a gradual degenerative process. The muscles, eyes, liver, brain and thyroid glands are also targets for the disease. A patient's physical growth is stunted.
At age 7, Emily is the size of a 2- or 3-year-old. Amy, 9, is commonly mistaken for a 5-year-old.
"They get a little insulted when people say, `Hello, baby,' " Mrs. Shaw said. "Some (patients) have reached their 20s, and never even gone through puberty."
Yet both girls are up to par - and speed - in many ways.
Neither of the Emerson Elementary pupils sees the illness as a handicap or hindrance. Amy, in fact, recently found that being short can be helpful - especially when auditioning for the part of angel in Sandy City's production of "Nutcracker."
The director, Mrs. Shaw said, felt Amy would be great since she's old enough to understand what they wanted her to do, but short enough for the part.
"Agile as a monkey and climbs just like one," is the way Mrs. Shaw describes Emily, another perpetual motion machine. "If she can't reach it she'll just climb up and get it."
Emily, who like Amy can be an irritant to older siblings, Jenny, 11, and Cory, 10, is always exploring.> "Her favorite treasures are bugs; she was stung very badly by a bumblebee once because she wanted it to play with her," Mrs. Shaw said of the dainty doll, who nestled her brown pigtails on her mom's shoulder. "Once she had a pet lady bug that she kept in a cup and would take it for walks and sing to it at night."
Emily, who believes that hugs should flow freely, thinks she's pretty invincible. Not too much stops her except a little bit of shyness.
"That's why a lot of people who see the youngsters say, `They're too happy to have anything terrible wrong with them,' " Mrs. Shaw said.
But the people on the "outside" of the family's restored "house of seven gables" don't see the frequent illnesses.
It was Amy's persistent vomiting, insatiable thirst and continually wet diapers that prompted Mrs. Shaw to seek medical help.
Misdiagnosis and misdirected statements from medical doctors followed.
"She's too fat to have anything wrong with her," or "I'm sure she just has a passing allergy," were among the common comments.
One physician suspected the flu; another said the baby was just having typical childhood ear infections.
Said Turner, "The disease does mimic some childhood illnesses and because of its rarity may not be considered by the pediatrician evaluating the child. The main tip-off is that over the space of two to four months, the child's height and weight will not progress as expected. That will signal a more serious illness."
It wasn't until Amy was 13 months old that a Sandy physician thought she might have some kind of kidney malfunction. Specialists at the U. confirmed she had cystinosis.
Amy provided a preview of what Emily can expect - bottle after bottle of medication, regular blood transfusions, and, possibly, a kidney transplant. Mom will be the likely donor - two or so years down the road.
Kathy, a former schoolteacher, and Gary, an independent electrical contractor, are preparing - physically, mentally, financially - for the long journey.
"Financially, we have hung in there," said Mrs. Shaw. "For the first eight years, our bills would build up, but we would pay them off at $15 to $30 at a time."
The insurance company pays 70 percent of the medical expenses; the couple pays 30 percent. Gary and Kathy also pay $393 a month for insurance premiums. "And each year it goes up $50 to $60."
Fortunately, a lifeline of financial assistance has come from Primary Children's Medical Center, Medicare, and the Shaws' church. Support from family and friends have helped the couple keep their spirits high.
Yet, they remain realistic about their young family's future.
Even with a transplant, each major organ is eventually destroyed by cystinosis until the child is no longer able to survive.
"It's hard to deal with that," Mrs. Shaw said. "But we have had to accept the fact that they are here for as long as they are here. God sent them to us for a reason.
"They don't view themselves as handicapped, so we treat them as just two of the kids."