Somewhere out there is another Utahn just like Kimberly MacNaughtan. At least her family hopes so.
Kimberly, 7, has a form of a skin disease known as ichthyosis. The outer layer of her skin grows at an accelerated rate and holds no moisture. As a result, her skin thickens and then constantly sloughs off.The term ichthyosis notes that the skin of people with the disease looks like fish scales.
At her best, Kimberly looks as though she has a sunburn. At worst, she looks like her skin is about to peel and crack away.
Depending on its severity, ichthyosis can also interfere with a person's hair growth, body temperature, water balance, physical and mental growth and development. In some cases, the skin is so tight it impairs breathing.
Kimberly would like other children to know this: "We don't give it (the disease) away and it doesn't hurt," she said. "I was born with it, and they shouldn't be afraid."
At Kimberly's birth, it took only moments to realize there was something different about her, said her father, Mark MacNaughtan, a teacher at Orem Junior High School.
Her skin looked shiny and taut; as the doctor began to clean her up, the surface of her skin began to bleed.
Her skin began to split everywhere that her tiny body bent - elbows, torso, neck and knees.
Kimberly was whisked into another room where nurses and doctors began evaluating her condition, trying to determine what was wrong with the MacNaughtons' fourth child.
"It looked like she was in so much pain," Celeste said. "Everything look pulled - like she was inside this tight body."
So began the family's introduction to the statistical odds of rare diseases.
Only one in 300,000 people have the same form of the disease that Kimberly does - lamellar ichthyosis. Both parents must carry a recessive gene for lamellar ichthyosis in order to pass it on to a child.
One in 250 people have a more common form of the disease, ichthyosis vulgaris. Annually, 17,000 people are born in the United States with one of the nearly 40 forms of ichthyosis.
While there is no cure for the disease, adults can be given high doses of accutane or Retin A, which in some cases causes the layers of skin to function properly. Children such as Kimberly are bathed several times a day to remove flakes and then swabbed with a heavy cream to keep the skin supple.
Dr. Richard Stone, Kimberly's dermatologist, said treatment consists of preventing secondary infections and trying to give patients a more normal appearance.
The MacNaughtans never had met anyone else with ichthyosis until this summer, when Mark's brother arranged for Mark, Claudia and Kimberly to travel to Florida to attend a two-day conference.
"If percentages hold true, there are five or six (people with ichthyosis) in Utah," Mark MacNaughtan said. "We don't want people to feel (alone). They face the same challenges we do."