North Dakota family adapts to son's fragile X disorder
GRAND FORKS — When she held her baby close, Jessica Eliason had a feeling that something wasn’t quite right with Larry.
“You know how babies, when you pick them up, they kind of snuggle into you? He didn’t do that.”
As Larry got older, she noticed that he wasn’t meeting certain developmental milestones.
“He wasn’t rolling over, crawling or pulling up on things,” said Eliason, who lives with her husband, Jeff, and their two children in Thompson.
At first, she wondered if she might be unfairly comparing her son to his older sister, Cindy, she said. “I think she was more advanced for her age.”
When she brought Larry to the family doctor for a checkup, both she and the doctor “felt that there was something not right,” she said.
The doctor recommended that Larry receive occupational therapy to “learn to do some of those basic things,” she said.
It would take more than a year — and several detours to explore possible causes for the delays — before an exact diagnosis was found.
Searching for answers
For a while, health care professionals thought Larry might be autistic or have something wrong with his ears.
“They were concerned that he was deaf,” but that was ruled out, Eliason said.
At 9 months, he started receiving physical therapy at Little Miracles Pediatric Therapy Clinic in Grand Forks.
The clinic is “awesome,” she said, noting that professionals there “worked with us for a year before we knew what (Larry’s diagnosis) was.”
As he grew, Larry exhibited poor balance, his mother said. “He struggled to stay upright — like he’d just gotten off a boat.”
The Eliasons took Larry to an Altru Clinic pediatrician and a Mayo Clinic pediatric neurologist who sees patients regularly at Altru Clinic in Grand Forks.
At 1 year old, “he was not walking, not standing next to things,” she said. Six months later, he wasn’t saying any words yet.
Occupational and speech therapy were added to Larry’s sessions at Little Miracles, she said. He also receives occupational therapy, through Grand Forks County Social Services, biweekly at home.
Last fall, shortly before Larry’s second birthday, Jessica and Jeff Eliason learned that their son has fragile X syndrome, a genetic disorder caused by a mutation in a particular gene that plays a role in the development of specialized connections between nerve cells.
An abnormal magnetic resonance imaging, or MRI, scan revealed that Larry had the condition, which is “kind of rare” in this region, she said.
There are no medications and no cure for it yet, she said.
The condition occurs in about one in 4,000 males and one in 8,000 females, according to the Genetics Home Reference website.
Larry’s diagnosis ended a long year of testing, Eliason said. “He’s gone through a lot, that little guy.”
The mutated gene that causes fragile X syndrome is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome.)
Fragile X causes a range of developmental problems, including learning disabilities and cognitive impairment. Usually, boys are more severely affected by this disorder than girls.
“There’s such a range (of symptoms) with fragile X, everything from autism up to mental retardation,” Eliason said. Attention deficit hyperactivity disorder is common in children with fragile X.
Larry has a rare form of the condition, “mosaic fragile X, which doesn’t affect all of his blood cells,” Eliason said, and so may help him avoid more serious symptoms in the future.
“It’s not a death sentence. Maybe he’ll work his way out of that, who knows?” she said. “It was as good of news as we could hear, at that point.”
Eliason is relieved to finally have the answer, she said. “That’s helpful. It’s better to have the diagnosis, to know we’re on the right track.”
The correct diagnosis frees her son from “all the testing, having needles going into him, and blood draws.”
She and her husband took Larry to a University of Minnesota clinic that specializes in the study and treatment of fragile X to ensure they were doing all the right therapies, she said.
“We don’t want to look back years from now and say, ‘We should have done that (particular therapy).’ “
Now 2 1/2 years old, Larry has trouble conveying what he wants or needs, so Eliason and therapists are teaching him sign language to make communication easier, she said. “We’re teaching him to say things like ‘more’ and ‘eat.’”
Until the diagnosis was confirmed, Eliason said she had no idea that she had a “premutation” of the chromosome, she said. “It had never shown up anywhere in our family.”
The diagnosis “has been quite a lesson in genetics for me and my family.”
Besides finding the most effective therapies for Larry, Eliason and her family also have taken steps to build public awareness of fragile X and support for research leading to better treatments.
This spring, Eliason dedicated her run in the annual Boston Marathon to Larry.
In March, she and her husband launched a foundation, “Larry’s Legends,” on Facebook to raise money for the study and treatment of fragile X.
They are planning events and a raffle to generate support for the FRAXA Foundation, which seeks to identify interventions for children with fragile X.
The Eliasons treat Larry like any other kid, she said. “He doesn’t know any different; it’s his normal. He’s happy. … There’s a lot more concern on my part than his.”
She is philosophical about his diagnosis.
“You want your child to be independent, to have accomplishments and happiness and achieve that on his own,” she said.
“We want to maximize his potential.”