Racing to find a cure for cystinosis

SANDPOINT — Like most kids these days, Henry Sturgis keeps a very busy schedule. And like most moms, Tricia Sturgis stays busy shuttling him from one place to another.

For Henry, this mad dash has not involved activities such as soccer, music lessons or karate classes. His days have been filled instead with speech, occupational and physical therapy. Even his swimming lessons are geared toward helping to improve his balance and muscle tone.

Life has been different for the boy and his family since the time Tricia and Brian Sturgis learned he has a rare kidney disease called cystinosis. When he was a toddler, his they began administering meds to Henry at six-hour intervals, 24 hours of every day. Without such treatments, he would not have been expected to live much past 10 years of age.

Now 5 years old, he bounds about like other kids and looks forward to starting public school next year. And although he is still small for his age — in the 50th percentile for both height and weight — the growth hormones he has taken over the past few years have been a big help.

His parents perform the bedtime ritual of checking on their son, but this, too, is different, because they enter the room with a hypodermic syringe in hand to give Henry his nightly injection of growth hormones.

“It has to be when he’s really asleep, like 9:30 or 10 p.m.,” his mother said. “It’s a lot less stressful on him that way.”

Last week, as Henry made the rounds of equipment in the physical therapy room at Farmin Stidwell Elementary School, his mom called him away from the trampoline and knelt beside him with a pair of syringes in hand.

“Do you want to take your own medicine today?” she asked.

Not missing a beat, Henry pulled up his shirt, popped the lid on the gastroendoscopy tube that sends liquid directly into his stomach, inserted a syringe tip and injected a dose of clear medication. Handing that one back to his mother, he took the second syringe filled with pink liquid and did the same. Then he snapped the top back onto the “G tube” and ran off to play again.

What would have been a traumatic and disturbing moment for most families has become absolutely commonplace in the world of Henry Sturgis. Thanks to a clinical trial for a new medication, the youngster’s med schedule has been cut in half. Because of that, Henry and his parents are sleeping through the night for the first time since they began fighting back against cystinosis.

“Life is feeling more normal,” Tricia said. “The new drug replaces the harsher drug he had been taking before and he only has to take it twice a day, instead of four times.”

The drug, known as RP103, recently was developed by Raptor Pharmaceutical Corporation and entered the trial stage late last year. With nothing to lose — cystinosis remains an incurable disease — the Sturgises contacted the Cystinosis Research Foundation and asked to be included in the trial phase.

“It opened up in November and they were accepting patients, so we got right in and got on it,” Tricia said. “It turned out to be like God in disguise.”

Finding concise information about how best to treat Henry’s disease has been a push at every step along the way, his mother explained, partly because cystinosis is so rare. There are only 2,000 cases worldwide and only 500 in the United States, which often leaves parents to make what amounts to judgment calls about their child’s care.

“They’re hard decisions because you’re on your own — you pretty much have to forge your own path,” Tricia said. “You follow your heart and take cues from your child.”

The Sturgises never meant for their son to become the poster child for cystinosis, but Henry’s face shows up regularly as part of the quest for a cure. The home page of the Raptor Pharmaceuticals web site shows a photo of him at about 3 years of age and, for local residents, Henry’s likeness makes an annual appearance on posters for the 24 Hours for Hank fundraiser at Schweitzer. Through that event, the family has been named among the top contributors to the Cystinosis Research Foundation, which spends the money in search of a cure for the disease.

Raising money was not enough for Tricia Sturgis, who has combined her fundraising prowess with a passion for sharing the knowledge she has gained with other parents now facing the same fight. As a member of the Cystinosis Research Foundation’s board of trustees who also sits on the organizations advisory board, she is on the front lines in the battle.

“I use my involvement as a way to cope and as a way to try and do something,” she said. “Our family has devoted so much time to this — it has consumed our lives.

“We’re hanging on in hopes for a cure,” she added. “I don’t feel as desperate, on a day-to-day basis, as we did in the beginning, because they say a cure is coming.”

Tricia Sturgis said she plans to carry a message to this year’s annual Cystinosis Research Foundation conference, telling parents not to lose sight of themselves in the process of caring for their children.

“Caregiving can be a rewarding and life-affirming experience, but can also be draining and exhausting,” she said. “Things like having a date night or going to a yoga class for stress relief are so important, but they’re hard to do when you’re a 24-hour caregiver. Whether you give care to others as a parent, professional, a volunteer, a relative or a friend, you can sometimes forget about your own needs. 

“Yet to effectively take care of others, you must take care of yourself.”

As Henry nears his sixth birthday, his awareness of both the disease and the enormous community effort to find a cure have increased. He asks tougher questions and, at times, has a harder time being the face of a fundraiser that has grown to the point that it overshadows the physical stature of the little guy for whom it was named.

Last year, the 24 Hours for Hank skiing event raised $90,000 for cystinosis research, as 120 skiers completed more than 9,500 runs at Schweitzer Mountain Resort. This year’s fundraiser will be held on March 30-31 on the hill and Tricia already finds herself having to explain the difference between Henry’s real life and the hoopla that surrounds his alter ego, Hank.

“He’s pretty shy to begin with and he doesn’t really like all the attention,” the boy’s mother said. “He knows he takes medicine and that we have these events, but he’s still too young to understand what it all means or how much people do for him.”

It would be hard to get a 5-year-old to understand the ripple effect of community support. Harder still to get him to wrap his little head around the stakes involved in finding a cure for a deadly disease such as cystinosis. Or, for that matter to prepare him for what it means to be the kid who lives with that disease.

“He’s getting more aware all the time,” Tricia said. “But at school, he still likes to show his G tube to everybody to show he has something different from the other kids — I know that will turn the other way, at some point, when he gets made fun of for it.

 “It’s hard, as a parent, to know how much you should tell him about his disease,” she continued. “It’s hard, but that’s life. You just hang on and hope you’re doing the right thing.”

This year, Feb. 29 has been designated as Rare Disease Day to underscore the importance of research as a life-saving tool and to encourage medical professionals and legislators to see past the politics involved and rally for the cause.

For information about that effort, visit: www.rarediseaseday.org

To learn more about Henry’s battle against cystinosis and the upcoming skiing event at Schweitzer, visit: www.24hoursforhank.org