Family struggles to find answers for boy with rare stiff skin syndrome

Compared with the developmental and emotional problems Jaiden suffered from the time he was born, the odd patch of skin that appeared on his right thigh when he was 7 seemed minor.

He noticed it first. It was about the size of a postage stamp and looked no different than the surrounding skin. But it felt as hard as pavement.

Natalie and Tim Rogers — Jaiden's legal guardians — weren't particularly worried, and neither was his pediatrician. But a specialist ordered a biopsy and told Natalie to sit down before giving her the news over the phone.

She imagined cancer. The doctor gave her a different diagnosis: stiff skin syndrome.

It sounded so innocuous, until she learned more about it.

In healthy people, a protein known as fibrillin helps form the elastic fibers that enable skin and ligaments to stretch. But in people with the syndrome, a genetic mutation causes abnormal production of the protein, thickening of the skin and limited joint movement.

In the worst cases, hardening tissue can squeeze vital organs.

The syndrome is extremely rare. Since it was identified in the early 1970s, fewer than 50 cases have been documented worldwide.

Having so little experience with the disease, doctors said they had no way of knowing how it would affect Jaiden. There is no cure.

Alone at her computer, Natalie searched online for other families afflicted by the disease — to compare notes about possible treatments, or just to commiserate. But she found none.

"If you have cancer, there are places you can go ," she said.

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Natalie had her own health problems. Doctors advised her long ago that pregnancy would be too risky.

So she had her husband set out to find another way to make a family. They adopted. A baby girl who grew up to become a physical therapist. And a 12-year-old orphan from Russia who now serves as an officer in the U.S. Air Force.

"It didn't matter if I had my own kids," said Natalie, 49. "There were kids out there that needed me, and I love them as much as any child that I could have given birth to."

She had stayed in touch with her daughter's biological family, including a sister with a 2-year-old boy named Jaiden and too many problems of her own to take care of him.

Natalie offered to do it. At the time, she and her husband were living in Minnesota, where Tim was a manager in the federal prison system. Their plan was to eventually retire on an 80-acre plot they had purchased near Alamosa, a tiny town in Colorado.

Jaiden had already been diagnosed with fetal alcohol syndrome, attention problems and autism. Those problems never scared Natalie, who simply saw an easygoing little boy, she said.

And soon those issues would be overshadowed.

By early 2013, a few months after the first hard patch of skin appeared, it had grown to cover Jaiden's entire thigh.

He began struggling to walk because hard skin coated the backs of his legs. He was already using a wheelchair when the family moved to Colorado that fall.

The hard patches continued to grow, spreading across his back. Eventually they spread to his neck, left shoulder and much of his stomach.

Most worrisome, Jaiden began having breathing difficulties as a result of the skin around his chest tightening. Last summer he began using an oxygen tank, and soon after stopped going to school because his medicines left him so drowsy that he would drift into sleep during class and topple out of his wheelchair.

The school district now sends a tutor to the house.

The couple have turned over the master bedroom to him — the only room with enough space for maneuvering a wheelchair.

It wasn't the retirement that Natalie and Tim had imagined.

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It is difficult living with such a rare disease so far from a major city and medical specialists.

Mikaila Pence, a pediatrician in Alamosa, keeps up with the literature on stiff skin disease and in close touch with Jaiden's specialists in Denver.

"He came to me with a diagnosis I don't know anything about — I've never heard of," Pence said. "I'm not only having to learn about a new patient and a new family, but having to learn about a new disease."

Treatment options have been limited. Natalie and Tim raised $85,000 in an online charity campaign to install a heated pool so Jaiden could do water exercises aimed at maintaining his range of motion in his arms and legs.

For a time, he took a drug normally used to treat leukemia that seemed to slow the disease's progression. But doctors stopped the drug after a year and a half, when the side effects became too severe.

At least once a month, Natalie drives Jaiden to Denver. The four-hour journey starts on gravel county roads that link up with the highway, most of it two-lane, running east through the Sangre de Cristo Mountains to the interstate that leads north.

His pediatric dermatologist there recently tried another leukemia drug. It is too soon to know whether it is working.

Now 10, Jaiden weighs 105 pounds and stands 4 feet 7. He often rides in a large stroller, which he started using after falling out of his wheelchair during bouts of tiredness.

Yet he also enjoys many of the things healthy children do, especially video games.

"He likes his picnics and he likes to sit in the grass," Natalie said. "We have chickens, and every once in a while he likes to see the chickens. He likes to roast marshmallows and sit out by the fire pit."

He calls Natalie and Tim his parents and says he would like them to adopt him, something they have been reluctant to do out of fear that it would threaten his Medicaid benefits.

"We're going to consider him our son whether we adopt him or not," Natalie said. "We're going to love him no matter what. I'm going to fight for him no matter what."

Bryson is a special correspondent.

Copyright © 2016, Los Angeles Times
A version of this article appeared in print on January 31, 2016, in the News section of the Los Angeles Times with the headline "Rare disease means a lonely fight - Boy's little-known stiff skin syndrome leaves guardians and doctors with nobody else to turn to." — Today's paperToday's paper | Subscribe
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