Karen Garloch

Charlotte mother wants parents to know about testing, treatment for XY chromosome disorders

Kellan Cyr’s mother Michelle, left, applauds after she encourages him to climb through a tire during a therapy session at Pediatric Advanced Therapy in Mooresville.
Kellan Cyr’s mother Michelle, left, applauds after she encourages him to climb through a tire during a therapy session at Pediatric Advanced Therapy in Mooresville. dlaird@charlotteobserver.com

At 2 1/2, Kellan Cyr is as verbal as some of his preschool classmates. But when he was a baby, Michelle Cyr worried her son might never talk.

Predictions that Kellan would be developmentally disabled and might have to be institutionalized proved wrong. But Cyr had to push to get to the truth. She wants other parents to know the story of her third child so they might avoid some of the hurdles she faced.

It began when Kellan was born Jan. 19, 2013, five weeks premature and not breathing. He was revived and spent three weeks in the neonatal intensive care unit at Levine Children’s Hospital. When he failed to gain weight and showed “floppy muscle tone,” Cyr said doctors chalked it up to the baby’s prematurity and her “advanced maternal age.”

Cyr, who was 45 then, and her husband, Andy, took Kellan home, but a week later, he stopped breathing again. “He was sleeping in my arms, and I looked down, and he was gray and lifeless,” she said.

After a week in the hospital, doctors sent Kellan home with a monitor. Three days later, he stopped breathing again. “I caught him turning blue before the monitor even went off,” Cyr said.

Kellan went back to the hospital, where Cyr said doctors told her they thought he was suffering from obstructive sleep apnea and reflux disease. They suggested an operation, called Nissen fundoplication, to strengthen the valve between the esophagus and the stomach and stop acid from backing up so easily.

The way Cyr saw it, the surgery would prevent Kellan from being able to vomit for the rest of his life. She and her husband thought it was too drastic and refused. They took their son home, and he never stopped breathing again. But Michelle Cyr knew something was wrong. At 5 months, Kellan never cried, and he didn’t coo when she spoke to him.

“I couldn’t put my finger on it,” she said. “He just didn’t look normal.”

Genetic disorder detected

Cyr expressed her concerns to Kellan’s pediatrician, who ordered some tests. Sure enough, one detected a genetic disorder. Instead of having the typical XY chromosomes that most boys are born with, Kellan was born with two extra X chromosomes.

His disorder is called 48XXXY because he has 48 chromosomes instead of the typical 46, and three X’s instead of one. Boys with this disorder can have behavioral and developmental delays that are often confused with mental retardation, autism or attention deficit disorder.

With that test result, the Cyrs saw a geneticist who said Kellan would probably be significantly developmentally delayed. Cyr refused to accept that. Through another Charlotte geneticist, she was referred to a neurodevelopmental specialist at the Focus Foundation, a Baltimore-area organization dedicated to the early identification and treatment of children with chromosomal disorders.

In October 2013, when Kellan was 8 months old, he was evaluated by Carole Sprouse, chief science officer of the Focus Foundation and associate professor of pediatrics at George Washington University. She recommended an unusual therapy.

It’s based on the understanding that boys with Kellan’s chromosomal variance are deficient in the male hormone testosterone, Sprouse explained. Research shows that boys have two surges in testosterone before puberty. One occurs before birth, at 8 to 24 weeks gestation, and the other is in the first six months of life.

Like other boys with extra X chromosomes, Kellan didn’t get those surges. Sprouse suggested that he see a pediatric endrocrinologist about getting testosterone injections, each a month apart.

That treatment approach developed after a serendipitous experience 15 years ago. Several sets of parents had brought their sons with X chromosome variations to the Focus Foundation for evaluation. Separately, the parents told Sprouse they had recently noticed improvements in their sons’ development. Each of those boys had been receiving testosterone injections to treat hormone deficiencies associated with the chromosome disorder.

“Every family said things like, ‘He was totally different after the second shot. It was like he woke up,’ ” Sprouse said.

She did a study of boys who had received hormone shots to see if the parents’ perceptions could be documented. “When you think about how much hormones affect brain development … it makes perfect sense,” Sprouse said. “If you’re deficient in testosterone, it may affect how you behave, how you develop, how you grow.”

Testosterone shots help

Since 2011, Sprouse has published several studies showing that boys who got testosterone injections showed improvements in language and motor skills and also had fewer behavioral problems and fewer symptoms, such as headaches and stomach aches, that are common in children with anxiety and learning disabilities.

“Pediatricians need to be aware of this (chromosome disorder) because they will see many boys who end up on medication for attention problems. They should be looking for this,” Sprouse said. “It’s a very simple test to identify them. It’s a swab of the cheek.”

One in 500 children are born with an extra X or Y chromosome, and 75 percent are never diagnosed, Sprouse said. It’s more rare to be born with two or three extra chromosomes. And unlike children with Down syndrome, which involves an extra chromosome, children such as Kellan don’t have a distinctive appearance. “These boys don’t really look any different,” Sprouse said.

Children with chromosome variations often go undiagnosed because people think they’re just good babies, Sprouse said. “People used to tell me ‘I had the perfect baby. He never cried. He never fussed.’ To be honest, babies are supposed to be demanding attention. They’re supposed to be crying.”

A huge difference

After seeing Sprouse, Cyr took Kellan to a Charlotte endocrinologist who gave her son the testosterone shots.

At that point, Kellan had not yet rolled over or begun to babble. But he slowly began to change.

“In a week, I noticed a huge energy difference,” Cyr said. “He grew really quickly and became more active. … He was so far behind, and he’s slowly caught up.”

Today, Kellan gets physical, occupational and speech therapy. He will get two more sets of shots before puberty, and after puberty he’ll need to use testosterone cream for the rest of his life, Cyr said. But she expects him to “turn out just like his brother and sister. … I expect it to be the full, happy, content life.”

In the meantime, Cyr and her husband have helped produce a video about Kellan’s life, and they have organized a fundraising workout for 9 a.m. Saturday at Champions Sports Performance, 18831 Statesville Road, Cornelius. Proceeds go to the Focus Foundation, www.thefocusfoundation.org.

“I want babies that have these symptoms to be tested immediately, no questions asked,” Cyr said. “Doctors have not caught up to where genetic testing has advanced. We need to change this.”