Hope for Hunter: Signs and words come together for 2-year-old boy with genetic abnormality

Tiny, 2-year-old Hunter Knowles is a precious toddler — blond curls and big, blue eyes with a sweet, friendly disposition and dimpled smile. Anyone meeting the Seabrook boy would be hard-pressed to find anything wrong.

And that's the problem that terrified his parents for the first 21 months of his life.

"For 21 months, it was pure hell in this house because we didn't know what was wrong with our child," said Hunter's mom, Marcia Knowles, as dad Jason Knowles looked on, nodding.

"We knew something was wrong. He was so tiny he didn't even make the (childhood standardized growth) charts. And he was developmentally behind."

Born three weeks early, Hunter was just 4 pounds, 12 ounces, Marcia Knowles said, much smaller than his older brother, JJ, who weighed in at more than 8 pounds at birth.

But, since Marcia Knowles had been ill during her last month of pregnancy, medical personnel simply figured Hunter's small size was natural.

"Everyone said, 'Oh, he's just small and thank God we got him out healthy," Marcia Knowles said. "But I knew something wasn't right. He was very quiet and had trouble nursing."

Having already raised two children — JJ and Tessa — the couple knew what to expect as children grow. What they saw in Hunter was a child failing to thrive. They tried everything recommended. They supplemented his diet. They went to a nutritionist. But little Hunter stayed little. And as he matured, he wasn't progressing as he should.

"He was so small and I was feeding him 1,200 calories a day. That's a huge amount for a baby," Marcia Knowles said. "He wasn't talking. He wasn't walking. His teeth grew in strangely. We were frantic because no one could tell us why."

Finally, at 21 months, Hunter's pediatrician thought he recognized something he hadn't seen since he was a medical resident. The reason he hadn't put the puzzle together earlier, he said, is because Hunter's symptoms were so mild.

The pediatrician recommended they see a geneticist, Dr. John Moeschler of Dartmouth-Hitchcock Medical Center in New Hampshire. Moeschler immediately diagnosed Hunter with CdLS, Cornelia de Lange Syndrome, a little-known genetic abnormality of which there is no known cure.

But while Moeschler put an end to the mystery, he put the family on notice that Hunter would need a lot of special treatment, perhaps for the rest of his life.

"Does any parent want to hear their child has a syndrome? No, of course not," Marcia Knowles said. "But once we knew what was wrong, we could get Hunter help."

In the six months since his diagnosis, Hunter has learned how to better communicate, thanks to a team of early interventionists. He is able to speak and can call for his parents, sister and brother as well as his favorite food, pasta.

Beyond that, Hunter communicates fairly fluently using sign language. His verbal skills and sign vocabulary grow daily, Marcia Knowles said.

Hunter's parents will continue providing their son with specialized programs and intervention for the rest of his life. They're happy to do it, they said, because "he's a keeper."

Why are Hunter's parents coming forward now? By calling attention to their son's problem, they hope they might be able to help other parents who might have a child with CdLS figure out what's wrong so they can get the necessary help.

"We want to make people aware of CdLS, because the experts believe there are 20,000 undiagnosed children with CdLS in the country," Marcia Knowles said.

Marcia and Jason Knowles say they're lucky, because Hunter's symptoms are mild and not life threatening. But there's a whole spectrum of symptoms with CdLS, some very severe, affecting the internal organs.

"In those cases when internal organs are involved, it can be fatal, especially undiagnosed," Marcia Knowles said. "We need to make people aware."

Named in 1933 for Dutch pediatrician Dr. Cornelia de Lange, who first noticed the similarity of symptoms in two of her patients, CdLS is a congenital syndrome, meaning it is present from birth. But CdLS is not considered a hereditary disease.

Caused by a genetic mutation or abnormality of one or more specific genes identified by researchers, authorities believe CdLS may affect one in every 10,000 live births. The exact number of cases however, is unclear.

Symptoms can range from mild to severe, but there are physical characteristics CdLS sufferers share, although not all must be present for a diagnosis of CdLS.

These characteristics include: birth weight of under five pounds, slow growth, small body, head, hands and feet; thin eyebrows, long eyelashes, short, upturned nose; cleft palate, thin, down-turned lips; excessive body hair, acid reflux, seizures, heart defects, bowel abnormalities, feeding difficulties, developmental delays, including speech; and finger, toe and limb abnormalities, including missing limbs.

With treatment, most children with CdLS can live into adulthood. However, undiagnosed and untreated, heart, gastric and bowel abnormalities can threaten life.

Children with CdLS are all different and progress individually, but slower than average physical and cognitive growth rates can be expected. Therapy and treatment interventions help and are highly recommended.

Those who suspect their child may have CdLS are urged to seek an evaluation by a genetic specialist.

For more information, visit the CdLS-USA Foundation's Web site at www.cdlsusa.org.

Marcia and Jason Knowles are organizing a fundraiser to benefit the Cornelia de Lange Syndrome Foundation in hopes of helping thousands of children across the country with CdLS, including their 2-year old son, Hunter.

The two-mile "Hoof It 4 Hunter" walk takes place Saturday, June 14, at 10 a.m. at Seabrook Elementary School on Walton Road. Refreshments will be served following the trek.

The Cornelia de Lange Syndrome Charity Golf Tournament marks its 16th year on Monday, May 19, at the Georgetown Club on Andover Street in Georgetown.

Tournament organizers John and Shelly Champion of Andover and Brian and Teddi O'Keefe of Salem are parents of daughters with CdLS.

The tournament has raised more than a quarter million dollars for the CdLS Foundation, a national family support organization.

This year's event kicks off with lunch and registration at 11:30 a.m., followed by a shotgun start at 12:30 p.m. Dinner is at 6 p.m. and a silent auction begins at 7. The entry fee is $175, which includes greens fee, cart, box lunch, dinner and prizes. For more, call the O'Keefes at 978-745-7794 or the Champions at 978-474-8823.

Photos

Two-year-old Hunter Knowles of Seabrook has been diagnosed with Cornelia de Lange Syndrome, a little-known genetic abnormality that slows physical and cognitive growth. A team of interventionists has been helping him to better communicate, both verbally and through sign language. Staff photo

Marcia Knowles of Seabrook is hoping to raise awareness of Cornelia de Lange Syndrome, a rare genetic syndrome, after her 2-year-old son, Hunter, was diagnosed. Staff photo

Two-year-old Hunter Knowles peers out the window of his Seabrook home. Staff photo

Two-year-old Hunter Knowles focuses on the camera at his Seabrook home. Staff photo