Third annual walk aids children with rare genetic disease
By Angeljean Chiaramida, Staff writer, Daily News of Newburyport
The family of a Seabrook boy stricken by a little-known genetic disease is gearing up for an annual two-mile walk to raise money and awareness to help others dealing with the effects of Cornelia de Lange Syndrome.
The Hoof-it 4 Hunter walk — named for 4-year-old Hunter Knowles — is set for Saturday, June 12, starting at 11 a.m. at Seabrook Elementary School on Walton Road, with proceeds to benefit the Cornelia de Lange Syndrome Foundation.
Hunter’s parents, Marcia and Jason Knowles, knew something was wrong with their sweet, loving child when he failed to gain weight and progress similarly to their other children. But it took dozens of doctors visits before Hunter was diagnosed at 21 months old with Cornelia de Lange Syndrome. Only then were his parents able to deal with the disease, make appropriate decisions and plan intervention therapies for his wellbeing.
Now a student in the special education preschool at Seabrook Elementary School, Hunter is doing well, his mother said.
“He’s started to talk. At school, he’s learning his numbers, his colors, his alphabet and he’s developing social skills,” Marcia Knowles said. “We’re so proud of him. He’s the best miracle for our family. He’s taught us so much.”
The Knowles family started the Hoof-it 4 Hunter walk three years ago, raising $6,000 the first year and $3,000 last year, even during a bad economy.
In addition to the walk, the Knowles family will be attending the CdLS Foundation conference in Texas next month. Marcia Knowles will be one of the conference speakers, perhaps supporting other parents who have children with the syndrome.
“The first two years of the walk, our main goal was to spread awareness,” Marcia Knowles said. “But, this year we’re hoping to raise more money, and all of it goes to the CdLS Foundation, since there’s such a lack of funds for this syndrome because it’s so rare. Many doctors still don’t know about it.”
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To get involved in the Hoof-it 4 Hunter 2-mile walk, contact the Knowles family at 603-474-1966.
About Cornelia de Lange Syndrome
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, experts believe CdLS may affect one in every 10,000 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 all do not need to be present. The characteristics include birth weight under 5 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 therapy and treatment, most children with CdLS can live into adulthood. However, left undiagnosed and untreated, heart, gastric and bowel abnormalities can threaten life.
Those who suspect their child may have CdLS should seek an evaluation by a genetic specialist.
For more on Cornelia de Lange Syndrome, visit http://www.cdlsusa.org.