Walk-a-thon to raise awareness about CdLS
Mom Marcia Knowles is rallying a "Hoof It 4 Hunter" walk-a-thon to raise awareness for Cornelia de Lange Syndrome, a condition she knew nothing about until her own son was diagnosed.
Hunter James Knowles, 27 months old, has a sunny disposition to match his full head of curly blonde hair and ever-ready smile. He also has CdLS, a condition that gives him the characteristic small stature, hands and feet, eyebrows that meet and long eyelashes.
CdLS Awareness Day is Saturday, May 10.
Those with CdLS have health issues ranging from mild to severe, including mental retardation, and internal, sometimes life-threatening conditions such as heart defects, gastroesophageal reflux, and bowel abnormalities. The condition is rare, about one in 10,000 births, and is caused by a gene mutation. It is expected most children with CdLS will live well into adulthood, according to www.cdlsusa.org.
The family feels lucky, Knowles said. Hunter has a mild form of the syndrome and is expected to attend Seabrook Elementary School with his peers. He communicates using sign language, and by grabbing his favorite books, opening them, and looking up with a big smile. Being read to is among his favorite activities, said his mom.
As is common to many families who have a child with CdLS, it took months for Hunter to be diagnosed. He was born three weeks early on Jan. 23, 2006, and wasn't diagnosed until Oct. 15 that year, Knowles said. The couple went to a nutritionist, wondering why Hunter wasn't gaining weight the way he should and finally ended up at the Dartmouth-Hitchcock Medical Center, where he was diagnosed.
"We never had heard of it," Knowles said. "Hunter's diagnosis was bittersweet for us. For 21 months, we didn't know why he wasn't walking, talking, growing. It was quite the struggle for our family."
Hunter is the couple's third child. Marcia, 34, and her husband Jason, 36, are also raising Tess, 13, and Jay Jay, 9.
"We went through the emotions of anger and sadness," Knowles said. "When he was finally diagnosed, they told us there's a few things that can be wrong internally, a heart (condition) that could be fatal. Luckily, all Hunter had was acid reflux."
Hunter loves books, taking the covers off the tops of bottles and anything else he can find and putting them back on, playing outside and his "blanky." He is curious and outgoing.
The entire family has learned sign language to keep up with him.
"We've looked at this as an honor from God," Knowles said. "He must have felt we're patient people ... Hunter is just a beautiful baby, we're lucky to have him."
In the community, she said, "Everyone has rallied together."
On Saturday, June 14, at 10 a.m., residents will go on a two-mile walk from the Seabrook School on Walton Road, to Farm Lane and Centennial Street and back up Walton Road to raise money and awareness for a condition few know about. Several employees at Town Hall are joining in the walk.
Local businesses have also rallied. Marcia Knowles has worked at the Old Salt Restaurant in Hampton for seven years. Her employer has been extremely supportive and generous, she said, donating a gift certificate for a raffle at the end of the walk. Myra Fowler of L & W Auto Repair in Seabrook has raised funds, as has Atlantic Health and Fitness, Fitness Revolution (formerly Positive Steps) in Hampton and Dana's Auto Repair. All of the money will go toward the Cornelia de Lange Syndrome Foundation, Inc.
Cornelia de Lange was a Dutch pediatrician generally credited with describing the collection of symptoms comprising the syndrome that bears her name. The CdLS Foundation put Knowles in touch with two other families in New Hampshire who have children with the syndrome. The Knowles get help from the Richie McFarland Children's Center, a local organization in Stratham that provides support services for children with special needs.
They family lives each day much like any other family, Knowles indicated, and feels blessed to have Hunter.
"I feel like he's taught us so much," she said, "it makes you stronger."
What: A two-mile walk-a-thon to raise awareness for Cornelia de Lange Syndrome. When: Saturday, June 14 at 10 a.m. Where: Seabrook Elementary School, Walton Road, Seabrook Contact: Marcia Knowles, 474-1966