Jake's still smiling

The Dering family of Tualatin celebrates Jake's first birthday and his progress after 16 hospital stays and four surgeries to treat a rare genetic disorder

Thursday, October 20, 2005

CATHERINE RYAN

TUALATIN Jake lay on his back in the living room, playing peekaboo with his homemade baby blanket.

"Mama, mama, mama, mama," he gurgled through labored breathing, the vestiges of a lingering cold. He waved his legs in the air, pumping them up and down, and giggled.

"See him working his legs around?" said his mother, Chellie Dering. "He's so good!"

Now she has even more reason for enthusiasm: On Tuesday, Jake celebrated his first birthday. It was a milestone that family members and his doctors sometimes feared he would never reach.

Jake has otopalatodigital syndrome type II, a rare genetic disorder diagnosed in only about 30 cases worldwide. The condition often causes skeletal abnormalities, cleft palate, joined toes and fingers, club feet and hearing loss. Most OPD patients die as infants, usually from breathing problems.

Jake was born with club feet; dislocated knees, elbows and hips; some webbed toes and fingers; shortened arm and leg bones; mild scoliosis; a cleft in the soft palate; and a vertebra fused to the base of his skull. He also has tracheal malaysia, which impairs his breathing and can lead to a collapsed windpipe, especially when he's ill.

For the first 10 months of life, his legs splayed sideways at 90-degree angles. Two weeks ago, doctors took off Jake's hip-high casts after his recovery from open-reduction surgery, during which they removed a 1-inch section from each femur and created new knee joints for him.

When he sat in his high chair Tuesday to blow out his one birthday candle, his legs dangled like any other child's. Despite 16 hospitalizations for respiratory distress or failure, Jake continues to breathe, grow and smile.

Chellie Dering and her husband, Steve, marvel daily at their son's progress. Sixteen hospitalizations and four planned surgeries -- with more to come -- have not soured his disposition.

"Jake, you can't stop him from smiling," his mother said.

Jake's still smiling

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Jake's mojo

Strangers don't always realize that Jake has complicated medical problems, though he still has bad days. A common cold can devastate him, and he can end up in the emergency room at any time.

The Derings appreciate each time they can use their favorite phrase to describe his improvement: "Jake's got his mojo back." They talk of Jake's ability to walk in terms of "when," not "if." Still, they try not to get ahead of themselves. They push away visions of track shoes and instead focus on the present and near future.

For Halloween, Jake will be a caterpillar. He will soon undergo surgery to separate his fingers. And he will eat cake for the first time at his birthday celebration this weekend, when they have a party to celebrate Jake's achievements. They've invited the people who have baby-sat their 2-year-old daughter, Sidney, run errands and cooked dinner to support the family.

"People really have a special connection with Jake," Chellie Dering said. "I think the reason why we had him is to touch people's lives. They don't do things for him; he does things for them."

Jake also has become a familiar face to many local health care professionals. The family's Web site, www.jakesake.com, names 33 nurses, doctors and therapists and 10 medical sites.

His doctors are most encouraged by his growing resistance to colds. He also is able to concentrate better on improving his motor skills because his windpipe has continued to develop.

Since January, Lesley Freeling, a physical therapist at Therapy Solutions for Kids, has seen Jake once a week. Now that he has functional knees, Freeling will work to develop his muscles and skills for standing. His dislocated hips won't prevent his progress, she said, and the Derings hope he will catch up to other children his age.

Sister learns compassion

The words "special" and "different" have no place in the Derings' tidy home, where they incorporate physical therapy into their son's daily routine.

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And having Jake as a brother has taught sister Sidney compassion and understanding beyond her years, Chellie Dering said. She recalled one day when Sidney was playing with Jake, who was still wearing the dark blue leg casts. The girl was tugging on his arm, which is bent because of his dislocated elbows.

Their mother stepped in to stop the rough play. "Honey, Jake's arm doesn't work that way. His arm is different than yours," Dering told her daughter.

"Mom, he's not different!" Sidney answered.

Although she occasionally clamors for attention, Sidney rarely resents the care Jake receives, her parents said. She hugs and kisses him, and always wants to play.

"She really embraced her little brother," Steve Dering said. "She's never said, 'Please send him back.' "

Different milestones

The Derings probably will remember different milestones than most parents.

Though Jake's first haircut may not stand out, Chellie Dering said she'll never forget the first time she held him to her chest. For most of his first year, Jake's dislocated knees and leg casts prevented his mother from comfortably cuddling him. Now that his legs hang normally, she can hold him face to face.

Because the Derings both have backgrounds in exercise and movement science, they paid special attention to signs that Jake was developing normally. They rejoiced when they saw that his eyes tracked movement and that he was able to sit up -- progressions many parents take for granted.

Doctors say such signs of development show that the boy probably was born without the neurological and hearing problems some other OPD patients have. Yet Jake has developed more slowly than other 1-year-olds because of his frequent hospitalizations, Chellie Dering said.

The family tries to live as normally as possible, but sacrifice and change now form part of their routine.

"We've tried to embrace that new normal," Steve Dering said. "Jake makes it very worthwhile, though, because of who he is."

Like any baby, he cries for milk, gums teething rings and laughs at his father's silly faces. His singularity stems not from his rare condition but from his remarkable ability to be a normal 1-year-old boy despite those hardships.

"He's always shown perseverance and done it with a smile," his father said. "There's something to be learned from that."