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.
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."