Family deals with Cystinosis diagnosis

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Brett and Brittney LeBeau accompanied their children Alexis and Evan to Disney this year. The Make-A-Wish Foundation granted Alexis’s wish to go to all the Disney parks and meet the princesses. Both children have Cystinosis, a rare disease that primarily affects children. | Submitted by Brittney LeBeau

Updated: November 9, 2011 4:15PM

When Brett and Brittney LeBeau got married in 1997, they had no idea they both carried the gene for Cystinosis, a rare disease that primarily affects children. When their daughter, Alexis, was born in 2001 and was constantly vomiting and would not eat, they had no idea what was wrong.

“Doctors were telling her she’d grow out of it or it was her personality. I just sensed there was something more going on there,” said longtime family friend, Lisa Simon, who encouraged the LeBeaus to continue to find help for Alexis. “It was obvious she wasn’t feeling right.”

It took more than two years of seeing therapists and doctors to receive the diagnosis of Cystinosis. In the meantime, Brittney became pregnant with their son, Evan, born in 2003.

“I knew right away that my son, Evan, had it,” Aurora resident Brittney LeBeau said. “There were too many similarities.”

Cystinosis is a condition in which the body accumulates cystine, an amino acid, within cells. The excess cystine forms crystals that can build up and damage cells, negatively affecting many systems in the body, especially the kidneys and eyes. The build up of cystine in the corneas makes it painful to go into the sun and eventually causes blindness.

Managing illness

To try to control the damage to their bodies and slow the progression of the disease, every six hours Alexis and Evan take powerful medication (Alexis takes 10 pills a day, Evan takes seven) — but it is not a cure. The LeBeaus stick to a strict schedule for the medication, including taking doses twice a day at Owen Elementary School where Alexis is a fifth-grader and Evan is in second grade.

Although the medicine has allowed the children to be medically stable the last few years, it is sulfur-based, which causes them to be sick. Alexis and Evan also see numerous specialists, because the disease affects every organ in their body from the liver to the brain, heart to the eyes.

Because Alexis did not receive a diagnosis until she was two, some damage already was done to her body, including slowing her growth.

“You would look at them and never know there’s anything wrong,” said Brittney LeBeau. “(Alexis) struggles with chronic pain. Those are things people don’t see.”

New direction

Their children’s diagnosis obviously changed the life the LeBeaus had thought they would have.

“It’s a constant thought all the time,” Simon said. “There’s no breaks (for them). They have to really rely on one another.”

After her children’s diagnosis, Brittney became involved in the Cystinosis Research Network, a grass roots nonprofit organization that had reached out to her. LeBeau felt there was a need to spread the word about the disease as well as become more knowledgeable.

“I’ve just kind of thrown myself in it because it’s allowed me to help other people,” Brittney said. “I’m one of those parents who wants to know everything.”

CRN raises money for research and supports families by sending pamphlets all over the country to recently diagnosed families. They also have a biennial conference where they meet with researchers and doctors who are looking for cures and treatments for the disease.

In addition to being a part of CRN, both Brett and Brittney, who were high school sweethearts at Naperville North High School, cope with the stress of dealing with the disease by attending and serving at Harvest Bible Chapel in Naperville. They also both are avid athletes competing in triathlons and marathons.

“It’s hard to have something like this that’s in your life and that you know is not going to go away,” Simon said. “They’ve been an example to many people.”