National Rare Disease Day....

Saturday, February 28 was National Rare Disease Day. Even though CdLS is not considered a disease, National Rare Disease Day is used to recognize all rare diseases and/or syndromes that children and adults around the world are diagnosed with and living with every day. I have met many special families that have children affected by many different diseases or syndromes that I have never even heard of. Their struggles have touched my heart and I wish the best for their children and their search for cures. The following is something I wrote and submitted to Marie at the CdLS Foundation to share with the National Organization for Rare Disorders in observance of this day.


Our son Joey was born in 2004 with a rare genetic condition called Cornelia de Lange Syndrome, commonly referred to as CdLS. CdLS is a congenital syndrome, meaning it is present from birth. The exact incidence in unclear, but CdLS is thought to occur in approximately 1 in 10,000 live births. Common characteristics include: low birth weight, slow growth, small stature, and small head size. Typical facial features include thin eyebrows (which frequently meet midline), long eyelashes, a short upturned nose, and thin downturned lips. Personally, they are among the most beautiful children I have ever seen. Medical conditions include but are not limited to gastroesophageal reflux, seizures, feeding difficulties, eye problems, hearing loss, behavioral issues and developmental delays.

Unlike some other conditions or syndromes, we had no idea there was anything wrong with Joey until our doctor approached us the day after he was born. And from that day on, our lives changed dramatically. Therapy sessions, doctor visits and special education serevices have become our lives ~ our normal. Although Joey has CdLS, we are fortunate that he does not have a lot of the medical issues that can and do go along with it. Joey attends preschool 4 days a week, physical and occupational therapy twice a week and also speech therapy twice a week. He participates in equine (horseback riding) therapy once a week from May through October. Joey has two older brothers and has been to many baseball, football and basketball games. He also has two younger sisters that he loves to torment. We get an immense amount of information and support from the CdLS Foundation and do what we can to raise awareness about CdLS. We traveled to Chicago last summer to attend our first CdLS National Conference. It was so great to meet other families with children who also have CdLS. It was definately a life changing experience.

The last 5 years have been quite a journey. We have had to learn to watch carefully for the many signs we have encountered on the road we are now traveling. We have had to obey many detour, yield and caution signs, as well as watch for forks in the road, road blocks and dangerous curves. But you know what? We wouldn't change a thing. There have been so many wonderful people enter our lives because of Joey. People we probably otherwise would not have met. And now everyone that helps Joey is such a big part of our lives we don't know what we would do without them. Joey has taught us many things ~ patience, understanding and the true meaning of unconditional love. So even though we never know what a day will bring, we take one day at a time, hour by hour, minute by minute. And marvel at all the great things Joey is learning how to do.


For more information, please check out National Organization for Rare Disorders.