APRIL 25, 2012

Take a walk in Cave Creek and fight cancer

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Lace up your sneakers – it’s time to fight cancer.  That’s just what you can do on Saturday, April 28 when the American Cancer Society hosts the 2nd Annual Relay for Life in Cave Creek.

This unique overnight event will take place at Cactus Shadows High School, where team members will take turns walking, jogging or running laps on the track from 6 p.m. to 6 a.m.  So create a team with your family, friends, co-workers and neighbors and create hope - hope for those fighting cancer and hope for those who have survived cancer.  Proceeds from this event go directly to cancer research.

Our Lady of Joy’s Knights of Columbus will host a  Survivor’s Dinner for cancer survivors and their caregivers. All cancer survivors are invited and can register at www.relayforlife.org/cavecreekaz 

If you’re not a walker, but you’d still like to participate in the celebration, the public is invited to join in the fun from 6 to 11 p.m. for live entertainment, games, food and fun.   Cactus Shadows High School is located at 5802 E. Dove Valley Rd. in Cave Creek.  Go to www.relayforlife.org/cavecreekaz  and find out how to get involved, how to register a team and how to help in the fight against cancer.

APRIL 25, 2012

Diagnosis slow, even non-existent, for thousands with genetic condition

May 12 dedicated to raising awareness of Cornelia de Lange Syndrome

LogoFor parentsof children born with Cornelia de Lange Syndrome, the rode to diagnosis can take months, even years. That’s because most doctors have never seen a patient with CdLS before, or the disorder is so mild that it’s not immediately detected. Diagnosis is critical since life-threatening conditions such as twisted intestines, heart defects and seizure often accompany the syndrome

Diagnosis took nearly six month for one family, whose daughter spent that time in the hospital fighting or her life.

“The day Emery was born, we knew something wasn't right, as she was born two months early. We tried to stay calm and reassure ourselves that even though she was so small and fragile, that she would be okay… She coded several times that week, and we were told she wouldn't make it, and to go ahead and plan her funeral.”  

Over a six-month period, we went through the doctors’ guessing game of trying to diagnose her … so much blood work and tests. We learned of many things most people our age had never heard of. We felt as though we would never know what our sweet baby girl was faced with. We finally got the confirmation of CdLS. It was a bittersweet feeling.”

This family’s story is not untypical. National CdLS Awareness Day—taking place this year on Saturday, May 12—is an opportunity to educate the public and health care professionals about the syndrome.

An estimated 20,000 men, women and children are thought to have CdLS but remain without diagnosis or support services provided by the CdLS Foundation, the nation’s only organization dedicated to the condition.

About CdLS
CdLS is a genetic syndrome occurring in about 1 in 10,000 live births. It affects males and females almost equally, and is found in all races and ethnic backgrounds. CdLS is not hereditary in most cases; rather, it is caused by a random change in one of three genes. 
Common medical problems include gastroesophageal reflux disease, hearing loss and feeding difficulties.

Although individuals with CdLS range from mildly to severely affected, most have similar physical characteristics: small size, hands and feet; eyebrows that meet in the middle; long eyelashes; upturned nose; and thin, downturned lips. Some individuals have missing fingers or arms, and partial joining of the toes.

Behavioral issues, including self-injury and aggression, are not uncommon. More than half of people with CdLS are considered to be on the autism spectrum. Intellectual disabilities or learning difficulties are often present. With proper diagnosis and medical care, people with CdLS can live a full life, well into adulthood.

More information about the syndrome is available from the CdLS Foundation Web site, www.CdLSusa.org or by calling the Foundation at 800-753-2357. Read more of Emery’s story and other stories of children with CdLS at http://storybank.cdlsusa.org.