Family fighting rare disease

SANDPOINT - The clock is striking twelve in the Sturgis home, where 2-year-old Henry is about to have his midnight snack. His parents prepare the meal and deliver it to the toddler before heading back to bed. They will be up again in a few hours, making another visit to the child's room.

The nourishment disappears slowly, dribbling away a little at a time. Henry remains asleep as it is consumed, hooked up to the gastroendoscopy tube that sends the liquid directly into his stomach. At 3 a.m., it will be time for the first administration of his medications for the day.

The meds will be taken like clockwork, every six hours, until midnight marks a new date on the calendar and another day of fighting back against a disease that affects a splinter of a fraction of a tiny speck of the planet's population.

Like shards of glass

There are only 2,000 people in the world with a disease called cystinosis. Only 500 of them live in the United States. There is but a single case in Idaho - a tow-headed toddler named Henry Sturgis.

Cystinosis is a rare, incurable disorder of the metabolic system that allows crystals to form inside the body. Once there, they travel through a person like miniscule shards of glass, ravaging internal organs, tearing away at muscle tissue, wearing down the joints and shorting out the nervous system. A normally functioning body will break up and eliminate the crystals, but a person with this disease needs constant medication to do the same job.

"Without any meds, a child with cystinosis would die at about 10 years old," said Henry's father, Brian.

 "With the meds, you can hopefully prolong life until 30. But the crystals will still destroy the kidneys, so Henry will have to have a transplant in his teens."

While this serious news is being discussed around the counter above his head, Henry scoots across the living room, dragging a yellow skip-loader toy in his wake. Trying to get an active boy to swallow six different medications at regular intervals proved so difficult that his parents followed doctors' recommendations to implant a "G tube" for administering nutrients and medications throughout the day.

"It's easier than having him try to swallow all this nasty tasting stuff," his mother, Tricia, says as she holds out a bottle of capsules that reek of sulfur.

"Show him your button," she adds as the boy's blond head bobs around the corner of the couch. Henry walks proudly forward, lifts his Thomas the Train pajama shirt a couple of inches and points to the center of his stomach.

"Button," he says, smiling as he displays his belly button.

"No, show him your other button," his mother instructs.

Lifting the shirt higher, Henry reveals a sealed orifice that looks, to the casual observer, like the capped top of a toothpaste dispenser. His smile widens and he bounces rhythmically up and down in time to a song Barney the Dinosaur is singing on the television behind him. Two buttons, he seems to be thinking as he examines his tummy and points to each in turn. How cool is that? 

Meds as a lifestyle

Missing even one administration of medication is not an option for the Sturgis family. Cystinosis is so aggressive that it requires a non-stop barrage of chemicals to hold it off. At this point, nothing has been found that can defuse the life-shortening impact of the disease. Parents of children with cystinosis are left with only the hope that, as they carve each day into concise blocks of time between one dose of medicine and the next, they are treading water until a cure is found.

"It becomes a lifestyle," Tricia says. "Around the clock, we're giving meds or nutrients or going to physical therapy."

"You become constantly aware of time," says Brian.

A regimen of eye drops has just been added to the meds Henry already is taking. Doctors discovered that he is among a minority of cystinosis patients whose eyes are also attacked by the disease, making his little known condition even more rare. Henry hates being held down and he hates the drops even more.

"But he'd go blind without them, because of the buildup of crystals in his eyes," his mother says.

In a booster seat at the counter, the boy is working his way to the bottom of a plastic bowl of macaroni and cheese. Barney is now a drone in the distant background - Henry's full attention is on a video player in the kitchen, where Thomas puffs his way along a railroad track. As the toy train approaches a tunnel, it slows down briefly and then charges into the dark opening, which elicits a torrent of giggles from the 2-year-old.

Like his tank engine hero, Henry is chugging through toddlerhood. He might pause at the dark spots, but he moves right along anyway, mostly unaware of the battle being waged around him.

"That's the thing," his father says. "He's never known anything different."

"Thank goodness," adds his mother.

Small for his age

Henry's rare disease was detected right before Christmas 2007. Prior to that, there were only vague notations on physicians' clipboards, medical descriptions like "failure to thrive," which meant he wasn't growing, wasn't crawling, wasn't hitting the developmental benchmarks that came with being a 16-month-old baby. Doctors thought it was rickets - a softening of the bones due to vitamin D deficiency or lack of calcium. It wasn't until Spokane Children's Hospital sent the blood work to a University of Washington specialist that cystinosis was diagnosed.

The news that followed left the couple stunned.

There was no cure for the disease. Henry would need to take medication at regular intervals for the rest of his life. At best, they could only hope to have him in their lives for 30 years.

"If they don't find a cure, that will be his lifespan," Tricia says. "As a parent, that is so hard to get your head around. It just slaps you in the face."

Right now, Henry looks like a small 2-year-old. He didn't learn to walk until after his second birthday because weak bones wouldn't support him. As he grows older, the difference between his size and that of his peers will become more noticeable. By the time he reaches adulthood, the reality will be inescapable. He will start taking growth hormones once he turns three, but even so, Henry will never grow to be more than four feet tall.

Constant struggle for coverage

Henry is at the coffee table in the living room, walking in circles as he steers a toy locomotive and a string of boxcars around the simple oval of wooden track. His parents go round and round as well, navigating a more complex journey through the hoops of insurance companies.

In a way, the Sturgises are lucky. Brian has a good insurance plan through his job as a manager in the Internet division of Coldwater Creek, which helps cover thousands of dollars in medical expenses associated with their fight against cystinosis. Still, it wasn't until Henry qualified for Medicaid that the specter of financial upheaval was lifted from the family.

"Without Medicaid, our medical expenses would be about $2,000 a month," Brian explains.

"And that's with the insurance coverage we already have," Tricia says.

Much of the couple's time is spent pushing until insurance companies cover the medications Henry needs on a daily basis. Because the disease affects so few people worldwide, the prescriptions used to treat it are as rare as cystinosis itself. And with a limited number of candidates for the drugs, pharmaceutical companies have no motivation to develop generic versions of sky-high brand name prescriptions.

Brian and Tricia call it "a constant struggle" to educate insurers about a disease of which most of them have never heard.

Searching for a cure

When Henry's parents discovered the Cystinosis Research Foundation, it was as if a massive set of doors swung open to present them with something that had seemed unimaginable months earlier - a wisp of hope for their son's future. In Paris and the Netherlands, in University hospitals and medical institutes in several states, researchers were bearing down on the causes of the disease.

Within the next year, that research could yield a medication that can be administered a couple of times a day, instead of virtually all day long. Gene therapy is being explored, along with the prospects for newborn screening to catch and treat cystinosis as early as possible.

And with a new administration in the White House, the potential for stem cell research has emerged from ideological shadows to creep into the welcome light of scientific investigation.

"Research is Henry's future - there's nothing else we can do," Tricia says.

The couple has formed a non-profit organization called "24 hours for Hank" to raise money for the battle against cystinosis. Next weekend, a race event at Schweitzer Mountain Resort will be held to support that cause. (See sidebar)

"It's nice to have something like this to throw your energy into," Tricia says. "We had no idea this disease even existed, but here we are. The best thing we can do now is raise awareness and hope that something happens, that something opens up in an area like stem cell research."

Henry's parents are sending the money from the upcoming Schweitzer event to the Cystinosis Research Foundation. Some people have told them that they don't want to donate to research - it doesn't feel direct enough. They'd prefer to have their dollars go directly to Henry.

"But this disease is so rare and there are so few children who have it that we want to help support the research that might lead to a cure," says Tricia. "It's like it is helping Henry in a way."

For more information about cystinosis and the fundraising event, visit: www.24hoursforhank.org