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Rare genetic disorder threatens life of Scott County toddler

Sunday, January 9, 2005

(Photo)
Craycen Beardslee plays tea party with her friends at her Oran home.
ORAN -- Graycen Beardslee is just like any other 2-year-old in the sense she loves playing with her dolls, having tea parties and watching "Barney."

But Graycen is also a unique child.

Every morning before heading to preschool the blond-haired, green-eyed little girl must lather up with a coat of lotion containing sunscreen in addition to a sunblock specially ordered from Spain.

Her clothes, consisting of long-sleeved shirts and pants, typically made of opaque fabrics, have been washed with a rinse containing sunblock. Topped with a jacket, a hat and sunglasses, Graycen is ready for the day.

Graycen will follow this similar routine for the rest of her life. In July she was diagnosed with xeroderma pigmentosum, or XP, which is a rare and incurable genetic disorder that makes exposure to the sun or any ultraviolet light life threatening.

Less than 200 people in the United States and less than 1,000 people in the world have XP. Both parents must be a carrier of the XP gene to pass it on to their child; however neither parent has symptoms of XP, according to the National Institutes of Health.

Known as "children of the moon" or "children of the night," those who are born with XP do not have the ability to repair damage done to their skin cells by the UV light. They rapidly develop skin crusting, scarring and cancers. Blindness and deafness can also result.

"She was the kid who would cry to go outside," said her mother, Kim Beardslee, 30. "Once we were going to church and we passed a playground and she wanted to play, but she couldn't. And those are the hardest times for me."

But Graycen doesn't generally complain to go outside.

"I think in some way she knows. How? I don't know -- but she'll tell you, 'Sun is bad,'" Mrs. Beardslee said.

High School sweethearts Kim and Eric Beardslee of Oran first learned of XP through their daughter's day care workers last spring. The workers showed Graycen's mother an article in Family Circle about a child from Utah who had XP.

Looking back, Graycen's mother said all the signs were there.

"Graycen had freckles at 6 months," recalled Mrs. Beardslee. "And I never thought anything of it -- Eric and I both have freckles."

But babies don't have freckles, and usually children don't get freckles until they're about 3 or 4, depending on their sun exposure, Beardslee noted.

Following a visit to their local family doctor, Graycen was referred to Dr. Susan Mallory, a pediatric dermatologist at St. Louis Children's Hospital, who clinically diagnosed Graycen with XP. Graycen was also tested for any eye damage, which she has none.

With the help of a friend, Mrs. Beardslee contacted the family from the article in Family Circle, and they provided her with contact information for a leading researcher of XP, Dr. Kenneth H. Kraemer at the National Institutes of Health in Bethesda, Md.

In October, Graycen and her parents traveled to the National Institutes of Health, where all three were examined for different XP studies. It's not unusual for teams of medical students or researchers to be present at Graycen's doctor visits, Beardslee noted.

Although the Beardslees have remained positive, they have had their tough times since Graycen's diagnosis.

Weeks after her first visit with her pediatric dermatologist, Graycen developed a fever blister on her lip, which grew to a size larger than a half dollar. She had surgery to remove the growth, which later doctors determined was pre-cancerous. Plastic surgery was also performed to repair the damage.

In addition to the one on her lip, Graycen has had a pre-cancerous growth on her forehead. Other growths have been detected on her nose and eye, her mother said.

In February the Beardslees expect to get test results back to determine the level of XP Graycen has. This will also identify what percentage of Graycen's DNA will repair itself, Mrs. Beardslee said.

Currently there is no cure for XP. Researchers in the United States and throughout the world are learning about XP and trying to correct the DNA repair defect in laboratory grown cells from patients with XP, according to the Institutes of Health.

"Some patients with XP will experience, speech or psychological problems and we pray that Graycens's not in that 20 percent. Everyday I have her, I'm grateful," Mrs. Beardslee said.

XP patients cannot be exposed to sunlight, halogen lights or unfiltered fluorescent light. Unfortunately most public places, including stores, have fluorescent lighting -- something that can be fixed with a plastic cover, Beardslee noted.

At home, a heavy black trash bag covers Graycen's window in her bedroom. The family expects to move into a new home later this year in Blodgett, where the windows will be specially tinted to keep out UV rays. John Hansen of Cleveland, Ohio, provides this service free for XP families, Mrs. Beardslee said.

Both graduates of Kelly High School, Mrs. Beardslee works in security at Associated Electric in New Madrid and her husband works in construction. Graycen is the granddaughter of Danny and Joyce Lambert of Sikeston and Harold and Joyce Eftink of New Hamburg.

It's been friends, family, members of the community and even strangers who have been really supportive over the past few months, Mrs. Beardslee commented. In fact family members have planned a fund-raiser for Jan. 22 in New Hamburg so the Beardslees can purchase a suit that shields XP patients from ultraviolet rays and construct a building for Graycen to play in.

Mrs. Beardslee often communicates across the United States via the Internet and telephone with other XP parents who have been helpful with providing her with tips and information about XP. The Beardslees are also hoping to attend to an XP camp this summer called Camp Sundown, which is a free camp for XP children and their parents.

Other than taking precautions with sunblock, avoiding sunlight and wearing protective clothing, there's really nothing else that can be done.

"You just have to wait and try not to get new damage," Mrs. Beardslee said. "And we check her everyday for new bumps."

Mrs. Beardslee pointed out their situation could always be a lot worse.

"God doesn't give you anything you can't handle," Mrs. Beardslee noted. "We still go to the pool and we swing, but just at night. You just have to use your imagination."

For more information about XP, visit the XP Society Web site: www.xps.org.