By Brett Buckner
Staff Writer
12-07-2008
WHITE PLAINS — Payton Thornton wants what every 3-year-old boy wants — to play tee-ball and wear flip-flops in the summer, to have a puppy like the one in Old Yeller and be able to wrestle with his big brother.
But because of a disease with a big name, Payton is denied those things.
It's called epidermolysis bullosa, or EB. It affects about 20 out of 1 million births, but the most severe form, recessive dystrophic EB, which is the kind Payton was born with, occurs about twice in 1 million births.
Payton's parents, Joy and Reid Thornton, don't pay attention to statistics.
"The numbers don't matter," Reid says, as Payton balances like a gymnast between his knees. "Payton's tough, tougher than most grown-ups I know."
Children born with EB are missing collagen VII, a protein that helps layers of skin stick together. Friction — from a hug to a fall — can cause blisters the size of water balloons. His toes are "mittened," fused together and the same thing could happen to his fingers.
The lining of his stomach is fragile as butterfly wings. Simply eating an Oreo cookie could rip his esophagus. Payton gets extra nutrition through his "special bellybutton" — a port in his stomach connected to a feeding tube.
"That's where my milk goes," he says, tapping on his stomach. "But I can't really taste it."
If nothing is done to help his skin heal, he will likely develop an aggressive form of skin cancer. Children with Payton's form of EB rarely live to see their 20th birthday.
And yet Payton doesn't do without much.
A few weeks ago, his grandfather bought him a green, kid-sized four-wheeler. Though it's slower than the red one his older brother, Parker, rides, it "goes fast enough," Payton says. And he'll prove it … in the living room.
"It goes like this," Payton says, stretching out his bandaged arms and gripping the imaginary handlebars with tiny pink fingers. "VRRRrrrrrroooommmmm!!!"
Watching him race across the linoleum making motorcycle noises, it's hard to feel sorry for Payton.
But there are just as many bad days — days of four-hour baths to clean bleeding sores and of 18-gauge needles used to pop his blisters, there are the medications he takes to fight infection and the gentle hands in latex gloves that change his bandages.
Though pain is all he's ever known, hope is a lesson Payton is starting to learn … perhaps sooner than anyone imagined.
Time to wait
It was well after midnight in early November 2007, when Joy read the story about a 2-year-old with EB named Nate Liao.
On Oct. 19, 2007, doctors at the University of Minnesota transplanted bone marrow and umbilical cord blood, both rich in stem cells, from his healthy brother through a catheter in Nate's chest and into his bloodstream.
Within months, the boy's body was producing collagen VII. His scabs and blisters started to heal. The bandages came off, and he was eating regular food.
The procedure was performed by Dr. John Wagner, head of the pediatric Blood and Bone Marrow Transplantation Program and director of the Stem Cell Institute at the University of Minnesota.
Joy wanted her son to have the same transplant. So she began a yearlong siege of letters, e-mails and phone calls to Wagner's office. Last month, the family flew to the University of Minnesota where Payton was evaluated by the transplant team and accepted into the experimental program.
"When just looking at his body surface, Payton's case is obviously severe and worse than most I've seen," Wagner says via cell phone on his way to a convention in San Francisco. "But his overall health is good and strong."
For three days, the family toured the hospital and the bone marrow transplant wing. They saw the germ-free rooms where Payton will spend upward of six months because of the chemotherapy that will leave his body "profoundly immune suppressed," Wagner says.
But every room has a TV and a Wii game system, which impressed Payton almost as much as his first airplane ride.
Joy was overwhelmed to finally meet the doctor she'd read about and watched on Good Morning America talking about this miraculous new procedure to help kids with EB.
"It was amazing, just to hear someone talking about a cure," she says. "When we talked to doctors before, no one ever gave us any real hope. Dr. Wagner changed all that."
For as much optimism as this treatment has created, it's important to remain cautious, says Geri Kelly-Mancuso, a nurse educator for the Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA).
"I'm very leery of the word 'cure'," she says from her Cincinnati office. "If … there's a lot of ifs involved. If the procedure works for a specific subtype of EB with a specific mutation, it may not work for everyone with EB. But the good news comes in that the research is being done.
"Good news is rare for a disorder that disfigures and destroys so many lives."
During their visit, Payton underwent four biopsies to establish a baseline for his specific form of EB and to help find a cord blood donor.
But finding a donor wasn't going to be the hard part. The real fight was going to come from the insurance company, which was unlikely to cover such an experimental procedure. Wagner prepared the Thornton's for a lengthy process that he expected to last months if not years.
The transplant alone will cost $500,000.
"I knew, somehow, it would work itself out," Reid says. "We've been through too much to let money hold us back."
Three weeks later, on the day before Thanksgiving, Joy came home from dropping Parker off at school. As soon as she opened the door, the phone started ringing. On the other end was Karen Foster, transplant coordinator from Blue Cross/Blue Shield with incredible news.
Against all odds, they had been approved. Blue Cross/Blue Shield agreed to cover Payton's transplant.
"I was so excited and relieved," Joy says. "We were all speechless. Nobody saw it coming, and now it's all happening so fast."
Many more obstacles lay ahead, but finding an unrelated cord blood match for Payton won't be one. That will be "very quick," Wagner says, adding that it could take only a few weeks. But he doesn't want to rush.
"Could we go immediately to transplant with Payton? Yes, we could," he says. "We know we have good donors. We also know that Payton's in good condition — he's young and isn't malnourished as so many children with EB are. So I think we should delay for now; see what can be learned from the others who can't wait.
"Payton has time."
Wagner is quick to add that if for some reason Payton's health suddenly deteriorates, the transplant team is prepared.
"We're ready to go at any time," he says.
But this will never be a risk-free procedure. Wagner is honest about the real dangers lurking behind what so many are hailing as a miracle.
"There will be deaths," he says. "But the only reason parents see this as a real choice is because the disease itself is so bad. These kids can't have a normal life or a normal life expectancy.
"We know it can work. It just takes time … and funding."
That's the reality Joy and Reid continue to face. Before the actual transplant, Payton will have to make several trips back to Minnesota for more tests — with airfare alone costing upward of $2,000, which Joy and Reid have to pay "out of pocket" — not to mention the six or more months he'll have to live in isolation following chemo treatment.
But those are worries for another day. For now, they'll all go on living as normal a life as possible, which won't be a problem — at least for Payton.
Outside their house, where the open farmland seems to stretch on forever, Payton revs the engine of his four-wheeler. But he can only ride as fast as the rope in his father's grip will allow.
Trotting behind, ready to pull the motorcycle to a stop if Payton starts going too fast, Reid tries hard to keep up. But Payton never bothers looking back. He just grins and blinks against the cold breeze blowing in his face.
"He's really just like any other little boy," Joy says, laughing as Reid tries not to slip in the mud. "And that's all we want for him to be."
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