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SALT LAKE CITY — Little moments make up a life — funny moments, hard moments — and some are tougher than others.
"He was just a really colicky baby," said Ashton Jenkins, mother to Sam, 6, and Lars, 3. "We kept bringing him back to the pediatrician's office and we'd always get the same answer, 'He's just a fussy baby.'"
Sam and Lars Jenkins have cystinosis, a progressive, fatal disease that affects all the organs of the body. It causes an amino acid, cystine, to form crystals that kill the cells.
Doctors diagnosed Sam at age 1, so his health problems are more serious; Lars was diagnosed at birth and began treatment immediately. The Jenkinses have a one in four chance of passing the condition on to their children.
"He (Sam) fell off the growth charts at 6 months. He started losing weight. He was very thirsty. Anytime he was in a room and he'd see someone drinking water, he would start screaming because he wanted water right away, and he'd drink it and he'd throw it up," Ashton said.
Stephen Jenkins, the boys' father, is a resident at the University of Utah. "We did just chalk it up to being new parents. We were just like, 'Man, this was harder than we thought,'" Stephen said.
His medical training is a blessing and a curse, he said. He can help the boys in ways only a physician can, and yet he also understands the depth and gravity of their ailments.
"That's what made it the most devastating," Stephen said. "Because I realized that it was a disease they would have for the rest of their lives, and it was going to change the course of their lives. They weren't going to have normal lives."
That's what made it the most devastating. Because I realized that it was a disease they would have for the rest of their lives, and it was going to change the course of their lives. They weren't going to have normal lives.
–Stephen Jenkins, father
The Jenkinses want to make their kids' lives as ordinary as possible.
Sam dons a Darth Vader mask in a fun video they posted on their blog littlebravesambo.blogspot.com to raise awareness about the disease.
Stephen and Ashton are advocates for better treatment and a cure. They find creative ways to raise money for the Cystinosis Research Foundation, which they said has been a salve. They pitch their cause on YouTube and social media. They recently raised $20,000 through a benefit concert with indie singer-songwriter Mindy Gledhill. All this, along with keeping up a grueling routine of medical care.
Sam takes 10 types of medication every day since his treatment is more complex. Lars has three types of medicine, but that still adds up to 24 pills each day. And as with any little kid, compliance isn't always easy.
"How about you give them to me?" asked Stephen while playing on the ground with Lars and trying to get him to take a pill. "Do you want to put them in my mouth?"
"Yah," Lars beamed.
"It's not a cure," Stephen said. "It basically prolongs their life. which we're very grateful for, but there's lots of side effects."
But keeping a positive attitude is key, she said.
"We met a family in Idaho who also had a son with cystinosis and, uh, sorry …," Ashton said as she got teary. "They were awesome. We realized that you could still live a normal life, and Sam could go to school and make friends, and their son Henry was skiing and doing all these exciting things, so they really gave us hope."
The family has good reason to hope. A researcher at University of California, San Diego, Dr. Stephanie Cherqui, has cured cystinosis in mice using stem cell transplants. You can read more about her research on the Jenkinses' blog.
The family also relies on its faith.
"For us, this is just a challenge and we can overcome it," Ashton said. "And we'll be better people for it. And I think our boys will be better people for it, too."
Little moments make up a life.
These parents don't take a single second for granted.
For more information, visit Stephen and Ashton's nonprofit website www.samshopeforacure.org.