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For someone who trekked the world when she was 21, Mindy Hegstad doesn't get out much.

The 36-year-old Longview social worker had serious wanderlust as a youth, globe-hopping from Australia to India, across South America, Asia and the Himalayan peaks of Nepal.

Today, Hegstad goes to work and comes home.

A full-time manager at Cowlitz County Human Services, she takes few vacations. She shops for groceries only when the caregiver can be with her 4-year-old son, Jay.

Forget parks, preschool and playgrounds. "It's too risky," Hegstad said.

Jay, one of only 111 boys in the world known to have a genetic disorder that leaves him with no immune system, has become Hegstad's new horizon, her endless adventure.

"This is a big change," she said.

It took three years crammed with crises, tests and procedures before Jay was diagnosed with a rare disorder called MeCP2 Duplication Syndrome.

Although he had low birth weight and breathing problems and was hospitalized for a week after he was born at St. John Medical Center, doctors saw no cause for concern, Hegstad said.

"They said, ‘Oh, he's fine.' They sent us home with a nebulizer."

In his first month of life Jay was back in the hospital twice for dehydration. He didn't respond to breast feeding, and doctors considered "failure to thrive" syndrome.

Once, said Hegstad, a prescribed medication put the boy into anaphylactic shock, an allergic reaction that can be fatal.

"He has been hospitalized 11 times, and pneumonia always played a part," she said.

When Jay was in the hospital to have feeding tubes inserted, doctors tried a new method because "his lungs were so damaged it might not work," Hegstad said. "I never left him. He was in a coma, and I sang songs to him. It's truly a miracle that he's here."

Hegstad's struggles were complicated by Jay's father, her former husband, who "never accepted the severity" of the disorder.

"He thought I was an overprotective mom," Hegstad said. "I knew. But his father didn't want to believe it."

When they divorced, and he terminated all parental rights, "I realized I would be doing this alone."

Jay was referred by his Longview pediatrician, Dr. Sue Abell, for genetic testing at Kaiser East Interstate in Portland, Hegstad said, where medical geneticist Dana Kostiner did two rounds of tests.

The first, a "broad panel testing for genetic disorders, showed nothing, Hegstad said, but in May of 2009, a second round, looking for fine mutations, found MeCP2.

"I was at work when I got the phone call. They said, ‘Are you sitting down? ... The good thing is, we know what it is. The bad thing is the prognosis.' "

She herself was tested in January to affirm that she was the carrier, Hegstad said.

Stories and songs

MeCP2 Duplication was discovered and named in 2005. Children who inherit it have numerous chromosomes that duplicate themselves, his mother said, with devastating repercussions to growth and development.

The disorder affects males only. If a woman has the MeCP2 gene mutation, her male children will have a 50 percent chance of inheriting it, Hegstad said.

The effects of MeCP2 are so damaging that, although one affected person lived to be 40, most die in childhood.

"Jay can't be vaccinated, like a healthy person," Hegstad said. and a cold or infection could kill him. "That's why he stays home. No school, no day care." Although he loves other little children when he sees them, "We don't go out in public."

From birth, children with MeCP2 are besieged with life-threatening infections, mental retardation, sleep apnea, muscular degeneration and features of autism and epilepsy.

Particularly tough for parents is that when their affected sons do learn something, such as how to speak or walk, they often regress and lose the skill.

Jay has surprised everyone by continuing to walk. However, he can't talk or learn to go to the bathroom, and he has to be fed through a tube. His lungs are so fragile that he sleeps in a special bed with a monitor on all night.

It's a dire litany. And it hardly does the little guy any justice.

"He loves books and music," said Hegstad. "Oh my goodness."

From shelves full of picture books, Jay can find titles suggested by his mother.

"Let's read ‘Love is a Handful of Honey' -- that's one of your favorites," she said. Jay nestled into Hegstad's lap and smiled and waved his hands as she read.

Love's when you hide in the forest, in a place that nobody knows ...

He toddles over and pulls out "One Fish, Blue Fish," and when they read it, he gestures and wriggles to the rhythm of the rhyme.

Jay understands a lot, his mother said, but it's easy to underestimate him because he doesn't talk.

"He went in for a blood drawing, and his blood pressure spiked way high. I said, ‘Have you told him what you're doing?' As soon as they told him, it went back to normal."

She carries on a constant, quiet patter with her son. If you watch his eyes, you can see he's tuned in.

He shares the treadmill with her to work on his leg muscles. They drum together. On quiet days, Hegstad will take him to trails at Mount Rainier and to the river at Willow Grove.

"He loves water," she said, including bath time. Special treats are chewing toys that come in chocolate, orange and wintergreen flavors.

"We have fun," she said. "I take it day by day. If you don't, it will consume you."

Hegstad flew with Jay to Texas Children's Hospital in Houston, where the top three specialists in MeCP2 Duplication conduct research and reach out to parents from all over the world.

One of the three, Dr. Melissa Ramocki, published the first definitive study on McCP2 this year in the American Journal of Medical Genetics.

With a recognized disorder, genetic research and contact with Ramocki, who has been very helpful, Hegstad said, "I have hope."

She also has support from her parents here in town, and her fiance, a Montana rancher and Border Patrol agent she met two and a half years ago on E-Harmony. He eventually met Jay and regularly visits Longview to see them.

Given the gene mutation she carries, would Hegstad have more biological children?

"I don't know," she said. "I do know that it would not be fair to put a child through what Jay has been through."

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