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Friday, February 26, 2010

Rare Disease Day


The CdLS Foundation is a partner in Rare Disease Day, which takes place Sunday, Feb. 28. Take a moment to learn about this annual world-wide event by following the link below. You can even share your own CdLS story. Send it to rarediseaseday@rarediseases.org (500 words or less and please be sure to copy the CdLS Foundation at outreach@CdLSusa.org).

Here is our story...

Our son Joey was born in 2004 and diagnosed with Cornelia de Lange Syndrome (CdLS). CdLS is a congenital syndrome, meaning it is present from birth. The exact incidence is unclear, but CdLS is thought to occur in approximately 1 in 10,000 live births. As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight, slow growth, small stature, and small head size. Facial features include thin eyebrows (which frequently meet midline), long eyelashes, a short upturned nose, and thin downturned lips. Excessive body hair, small hands and feet, and incurved fifth fingers may also be indications of CdLS. These children and adults can battle such health conditions as gastroesophageal reflux, seizures, cleft palate, feeding difficulties, eye problems, hearing loss, behavioral issues, and developmental delays. Limb differences are also found in some individuals.

Joey is a source of extreme joy for our family. Blanketed by two older brothers and two younger sisters, he learns from them and they from him. He is one of the greatest teachers I have ever known. He has taught us patience and understanding. Joey has also taught us to take one day at a time and find joy in the little things. He has opened up a whole new world to us that we never knew even existed. A world we are blessed to be a part of. He has come so far and we are very proud of his accomplishements. Joey works very hard - he goes to kindergarten, attends physical, occupational, speech, and music therapies. He has also participated in equine therapy since he was three years old. All of these activities and therapy sessions have made it possible for him to reach his goals and for that we are grateful. We are also grateful to know that Joey has CdLS. So many children and adults are living without a diagnosis - therefore not getting the services they need to help them live their lives to the fullest. The Cornelia de Lange Syndrome Foundation offers information and support to children and adults and their famlies who are facing the daily challenges of living with CdLS. Without them we would be lost. If you know and love someone with CdLS, or if any of the characteristics described sound familiar for someone who may be living without a diagnosis, please contact the CdLS Foundation at 800-223-8355. The help you need is right there waiting for you.

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