What is Cornelia de Lange Syndrome?
CdLS is a genetic disorder present at birth and affecting an estimated 1 in 10,000 live births. The severity of CdLS ranges from mild to severe, but most individuals with CdLS share similar characteristics, such as small stature; joined eyebrows; long eyelashes; upturned nose; and thin, down-turned lips. Common medical issues associated with CdLS include severe gastro-esophageal reflux and feeding difficulties; cleft palate; vision problems; hearing loss; seizures; behavioral issues; missing limbs and/or limb differences; and heart defects. Most children with CdLS have some degree of mental retardation. Overall, cognitive and physical development is slowed, while delays in speech and communication are even more pronounced.
About Elijah and Our Journey So Far:
Elijah is a handsome, charming 11 month old (he'll be 1 years old on June 18th). He's currently 9 lbs and 22 inches long. His right arm is contracted with one finger and he has four fingers on his left hand. When he was 6 days old, he had surgery inserting a feeding tube into his stomach (G-Button/gastrostomy). Thankfully, at this date he has made major progress and is now able to drink some of his meals by bottle (thickened) (and the remainder by his g-button). He takes medicine daily to assist with his gastro-esophageal reflux. Elijah has a host of doctors/specialists and therapists. He has physical, occupational and speech/feeding therapy weekly; and bi-monthly appointments with a dietician.
Elijah likes dinosaurs, Cookie Monster, Chica (The Sprout Network), toys that makes sounds and fish aquariums.
Elijah's diagnosis was a surprise when he was born. My pregnancy was normal and I didn't have any issues or alarms. You can only imagine how I felt becoming a new mom and then to find out the things that were different about my child; on top of hearing about a syndrome I had never heard of. I was overwhelmed and to some degree tramautized.
Cornelia de Lange Syndrome is rare and because it's so rare, it's vital that we learn as much about it as possible to educate ourselves, as well as Elijah's doctors/specialists. For a few of Elijah's doctors, it’s a learning game, because they're not familiar with this syndrome, thus they learn from us. No syndrome is the same and with Cornelia de Lange, no child/adult with this syndrome is the same, so it’s a learn as you go situation.
Attending this conference would be so very beneficial to Elijah’s future in so many ways. Any help would be greatly appreciated. Please reach out to me if you have any questions or for more information on Cornelia de Lange Syndrome please visit www.cdlsusa.org.
We will be forever grateful.
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