Monthly Archives: May 2010

Bikers in the Twin Cities hit the highway for CdLS

The first-ever Motorcycle Ride for Cornelia de Lange Syndrome (CdLS) is Saturday, June 12, starting at Hitching Post MotorSports in Hopkins, MN. The event was organized by three area families with the hopes of raising $5,000.

Motorcycle ride organizer Dave Viland is grandfather to five-year-old Audrey, who has CdLS. Dave is a vice president of the CdLS Foundation’s board of directors, and all money benefits the Foundation. “Right after we found out about the CdLS Foundation, my wife and I decided that we wanted to be a part of it. When the previous director recognized my background in healthcare and asked me to join the board, I knew that I had to for my daughter and for Audrey,” says Dave.

Dave says he was inspired to start a fundraising event involving a motorcycle ride because he is a biker himself, and he wanted to start a unique event that would bring money to the Foundation. The Watczak and Drach families stepped up to help. Both families have children with the syndrome. “The major resources of revenue for the CdLS Foundation are from donations and fundraising activities. Being a biker myself, I knew motorcyclists do benefit rides all the time, so “why not?” ”

“We want to develop a template for this event for other regions of the country. We hope other bikers will see what we’ve done and want to start a CdLS benefit ride near them. If we can get motorcyclists around the country to get involved, people will be more aware of what CdLS is and want to help as well.”
The motorcycle event begins at 9:30 a.m. with registration and a continental breakfast, followed by the start of the motorcycle ride at 10:30 a.m. There is a mid-point stop and lunch break at 12 p.m. at the Lake Ridge Care and Rehab Center in Buffalo. The ride ends back at Hitching Post Motorsports at 2 p.m., where there will be an awards ceremony, a 50/50 drawing, poker run, and the chance to win prizes.

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Hoof-it 4 Hunter is June 12

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.”

• • •
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.

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CdLS Awareness Day gathering recap

A great time was had by all attending the CdLS Awareness Day gathering in Mt. Kisco, NY, last Saturday. Families and friends cames from New York, Connecticut and Massachusetts to enjoy a few hours of face painting, crown making and, thanks to Emily, dancing. Check out the slideshow below for a few highlights:

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CdLS Awareness Day is Saturday. Make your mark.

National CdLS Awareness Day is this Saturday. Consider hanging an awareness flier in your local grocery store or sending a Letter to the Editor to your community newspaper (go to http://www.cdlsusa.org/awareness_day/Awareness_Day_2010.shtml to download materials). And if you haven’t already shared your CdLS story for our story bank, consider doing so. Send it to outreach@CdLSusa.org.

Just in time for Awareness Day, check out this video montage of children with CdLS:

A big thanks to Rachelle (mom to Joey) and her friend for putting this together.

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Help the CdLS Foundation win $50,000 for research

The CdLS Foundation is in the running for a $50,000 research grant from Pepsi through the Refresh Everything program. The competition is based on number of votes–the top 10 win–so please vote for this project every day in May.

Go to www.refresheverything.com/cdlsresearch to learn more and to vote for CdLS research.
There you will also find tools to share the info with friends and family through Facebook, Twitter, blogs, and other social media.

Please help us fund important research into CdLS!

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