Sandpoint Couple Doing What They Can To Find a Cure for Son's Rare Disease

As first-time parents, Brian and Tricia Sturgis did not immediately recognize when their son Henry was not progressing in his development. But looking back, the signs were there.

Tricia began to notice Henry, now 3, was different when the two attended play groups. While other kids his age were sitting up and bearing weight on their feet, Henry did not.

“Play dates are your guide,” said Tricia. “You do not want to compare your kids to others, but you can put things on your radar.”

At the age of 16 months, Brian and Tricia finally had a diagnosis for their little boy – cystinosis, a genetic disease which causes the amino acid cystine to accumulate in the body’s cells. As it accumulates it destroys some of the body’s organs, including the kidneys, liver, muscles, white blood cells, eyes and central nervous system.

“He already had rickets (softening of the bones) and kidney disease at 16 months,” said Tricia, who would like to see screening available at birth so immediate treatment could keep some of the side effects at bay.

Because the disease is so rare – afflicting only 500 people nationwide and 2,000 worldwide – the couple quickly found that there is little research money, support or resources available. But that has not stopped Brian and Tricia from doing everything in their power to find a cure for their little boy.

They first sought support from other families who face the same challenges.

“There is a little girl who lives in Clarkston who has it,” said Brian. “That was pretty key to meet someone else living with it.”

Then in May 2008 they attended a fundraiser put on by The Cystinosis Research Foundation and were inspired when they learned what is being done to raise money for research and the progress that has already been made.

“That really inspired us,” said Tricia, who with Brian and the help of many friends and relatives put on their first fundraiser in September 2008. Since then the couple have raised approximately $200,000 and are recognized as among the leaders nationwide when it comes to donating to the California-based Cystinosis Research Foundation.

“We really looked to see where people were putting their money and this place made sense,” said Brian. “These people are hopeful they will find a cure within five years.”

Since its formation in 2003, the CRF has funded more than $10.8 million in cystinosis research.

“Twice a year the CRF puts out a worldwide call to the scientific community for research proposals,” said Tricia. “Currently, the CRF is funding 41 studies and 10 research fellows in North America and Europe.”

Currently Henry is on eight medications, six of which must be administered every six hours.

“When he was first diagnosed, we gave it (his medication) to him through his mouth,” said Brian, describing how he and Tricia had to wake Henry up at midnight and sometimes it would take 40 minutes to get him back to sleep. But in June 2008, they had a gastrostomy tube implanted in Henry’s stomach allowing them to administer his medicine without waking him up or subjecting him to the medications’ terrible taste.

Henry, or Hank as some call him, is a bubbly 3-year-old who attends preschool two mornings a week and also goes to speech, occupational, physical and water therapy. Tricia says she enjoys watching Henry interact with other kids, especially those from whom he receives support, specifically a boy who attends speech therapy with Henry.

“They make each other feel secure and welcome. They’ve become best buddies,” she said. “It is definitely one of the positives.”

In spite of the busy therapy and medication schedule, the couple seem to take it all in stride.

“It’s your new norm,” said Brian. “You forget how life was before.”

Tricia encourages others facing challenges in their life – medical or otherwise – to seek support from others who may be in similar circumstances.

“Find someone who can offer the support of hope,” said Tricia.

The couple say their primary goal is to continue to raise money and to donate it to research to find a cure in time for Henry; their secondary goal is to have better treatment available.

Tricia was recently appointed to the CRF board of directors and will travel to California on March 18 to present the foundation with a check from the latest fundraiser, a 24-hour ski event that was held at Schweitzer Mountain. They are in the planning stages of a Sept. 11 bike ride to raise more money for their foundation – 24 Hours for Hank. It is hope for their son and others like him that keeps them going.

“You never know whose life you’re going to change,” said Tricia, in her heart praying that Henry’s will be one of them. “I have a renewed sense of hope. People should never give up on hope because it (a cure) could be just around the corner.”

For More information go online to http://cystinosisresearch.org/ to learn more about cystinosis. To learn more about fundraisers for Henry Sturgis, go to http://www.24hoursforhank.org