Boy with rare genetic disorder touches many :: The SouthtownStar :: News

Boy with rare genetic disorder touches many lives
Adam's world: One Oak Lawn family's story of living with Lowe syndrome

October 30, 2010
BY ELISABETH MARTIN

Adam Carrillo has become something of a celebrity at Hope Children's Hospital in Oak Lawn. When his mom and dad wheeled him into the hospital's lobby on a recent afternoon, everyone greeted him by name.

"Adam! How are you?" phlebotomist Virginia Kolodziejczak asked, bending over to touch his shoulder. She's taken his blood plenty of times in the past few years.
"He's a sweetheart," she said. "He's so good-natured."

It's no wonder everyone at Hope knows Adam, considering how much time the 16-year-old has spent here. But Adam's mom, Caroline, said this reception is typical everywhere they go, from Wal-Mart to the Hooters in Oak Lawn, Adam's favorite restaurant.

"Adam has that effect on people," Caroline said. "People say his hug is electric."

The diminutive teen was diagnosed nine years ago with Lowe syndrome, a rare genetic disease that causes physical and mental disabilities. It affects only boys, and just a few hundred people in the U.S. have it.

In Adam Carrillo's case, the effects of Lowe syndrome have been severe. He's just 3 1 / 2 -feet tall and weighs 43 pounds, the size of an average 5-year-old, and his eyes are huge behind the thick bifocals he wears to correct his vision.

Despite his disabilities, though, Adam's world was full before a stroke sidelined him earlier this year. He went to school at Elim Christian School in Palos Heights, where teachers dubbed him "The Mayor" because of his popularity. He struck up conversations with strangers, spent hours drawing and loved to dance.

"Before this, it's terrible to say, but Adam had a life," said Adam's father, Lou.

That all changed in March. Now, the entire family's life revolves around Adam's recovery from a stroke and seizure that have left him unable to stand on his own or speak. Lou and Caroline Carrillo spend their days encouraging Adam at physical therapy sessions, giving him his meals through a feeding tube and wondering what his mysterious disease will bring next.

A sixth sense about people

Adam is Lou's and Caroline's only child together, which Caroline says was a blessing in disguise. As soon as he was born, it was clear that he would need all the attention they could give him.

"He blew all of his milestones," Lou said. "They used the term 'developmental delay,' so you think, 'Oh, he'll read at a third-grade level in fourth grade.' We didn't realize at first he had hard-core special needs."

It wasn't until 2001 when Adam, then 7, was officially diagnosed with Lowe syndrome. Though the Carrillos had been dealing with the effects of Adam's disease for years, the diagnosis scared them, partially because of its rarity.

"It's different than getting diagnosed with Down syndrome or autism, where people at least recognize it," Lou said. "With Lowe syndrome, everyone says, 'What the hell is that?'"

Still, Lou and Caroline continued to raise Adam the way they had before, giving him chores to do, sending him to time out if he acted up and taking vacations as a family.

The Carrillos say Adam often had a sixth sense about people, breaking out a little quip or giving them a hug if they were down.

"To us, it was like this secret that Caroline and I had, all the great things that Adam did," Lou said.

But even before Adam's stroke, his health had begun to falter, a phenomenon his parents say is common among Lowe boys. His hair began thinning, and he developed kidney problems. After his stroke, doctors scanned his brain and found deterioration similar to the kind found in the elderly.

"They treat him like a geriatric patient now," Lou said.

The day before his stroke in March, Adam hadn't been feeling well. The Carrillos woke up that night to the sound of him wailing and rushed him to Hope's emergency room. Even there, Adam tried to lighten the mood, doing the "Chicken Dance" as he lay on the gurney.

Suddenly, Adam's tiny body was gripped with a seizure that lasted 45 minutes, and his organs began shutting down. Amazingly, he made it through the night, then slowly began to improve. He spent five weeks in pediatric intensive care and received 330 visitors in his first week alone, a powerful reminder to the Carrillos of how many lives Adam had touched with his own.

"Even the people from the kitchen at Elim came to see him," Caroline said. "I asked, 'Which one of you wants to hold him?' They were so excited, it was like I was giving them the best present ever."

Being Adam's mom a 'privilege'

Life at the Carrillo household has been in flux since Adam came home. He's not toilet-trained anymore, and his left arm is permanently curled up. Taking him out of the house is now complicated by lots of extra gear - diapers, medications, a feeding tube - so trips are limited mainly to Adam's four-times-a-week physical therapy sessions and frequent doctor visits. Both Caroline, a stay-at-home mom, and Lou, a loan officer, never miss a session.

The Carrillos are matter-of-fact about the challenges their son faces. Even without complications, life expectancy for those with Lowe syndrome tops out at 35 or 40 years, and doctors say it's likely Adam will have another stroke.

"He's not ever going to be where he was before (the stroke)," Lou said.

But Adam and his parents still keep fighting. At a recent therapy session, Hope therapist Mari Jo Pesavento helped Adam stand on his feet and walk on a treadmill in a harness, singing a song about him to the tune of "This Old Man" to help him with his rhythm.

"He's a charmer," said Pesavento, who's given Adam therapy since he was 5. "We knew he was getting better when he tried to reach out and touch people. It's a slow, steady process."

Back at home, Lou cradles Adam in his arms as they sit on the edge of Adam's bed, surrounded by dozens of his stuffed animals.

"One of the saddest side benefits of Adam's stroke is being able to do this," Lou said as he gently rocks Adam on his lap. "He never would have let me hold him like this before if Mom was in the room."

People keep telling the Carrillos to enjoy every day with Adam, since they don't know how many they have left. But the Carrillos say they've been doing that since Adam was born.

"One mom asked, 'How do you do it?' I said, 'I can't determine Adam's outcome,'" Caroline said. "I look at it as, I've always had the privilege of being Adam's mom."

MORE ABOUT LOWE SYNDROME

Lowe syndrome is a rare genetic condition that causes physical and mental disabilities as well as medical problems. The disease exclusively affects boys, and only about 300 people in the U.S. are known to be living with the disease.

Lowe syndrome affects three major organ systems - eyes, brain and kidneys. Boys with Lowe syndrome are born with cataracts, and many of them also have glaucoma. The effects of the disease can range from mild to severe and include delayed motor development, poor muscle tone, seizures, behavioral problems and short stature. The average life expectancy for those affected with Lowe syndrome is 35 to 40 years, barring any complications.

Lowe syndrome is named after Dr. Charles Lowe, a Boston-area doctor who first described the disease in the 1950s. Though scientists have pinpointed the gene mutation responsible for causing Lowe syndrome, there is still no known cure for the disease.

As Lou and Caroline Carrillo work to keep Adam as healthy as possible, they have also firmly established themselves in the Lowe syndrome community. This year, Caroline helped to organize the Lowe Syndrome Association's biannual conference, which was held in Oak Brook in June and drew 168 people, including attendees from as far away as Australia and Greece.

Though much about the disease remains unknown, the Carrillos say just talking to other parents with Lowe boys helps.

"I have a rapport with parents I haven't seen for two years," Caroline said. "Every child is different, and yet they're all the same."

For more information on Lowe syndrome, visit the Lowe Syndrome Association Web site at www.lowesyndrome.org.

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