Andrew is not your typical 16 year old. He has a genetic disorder called Cornelia deLange Syndrome (CdLS) which has impacted his life in many ways. For example, he’s very small for his age and only weighs about 45 lbs. He has feeding difficulties and receives all of his nutrition through a tube in his stomach. He has significant speech delays and he cannot communicate verbally. Therefore, he cannot always communicate his feelings or health and pain issues appropriately which includes serious GI issues that are common in individuals with CdLS. Developmentally, Andrew’s cognitive functions are generally in the toddler range, with some areas reaching a little higher.
Even though he has faced many challenges, and will continue to face them throughout his life, he is happy, healthy and thriving and also continues to learn and love life. He goes to a private special education school which he loves! He enjoys learning new things and loves hanging with his “friends” at school. He is able to communicate some of his needs and wants using about 200 words in sign language, and also uses an app on his iPad to communicate. He loves watching YouTube videos as well as taking and editing pictures on his iPad. He has a really great sense of humor and loves to tease in his own way. There is nothing better than hearing his laugh and seeing his smile, and lucky for us we see and hear them often! Overall, life is so good!
But it wasn’t always like that. Until Andrew was born, we had never heard of CdLS. We were scared and had no idea how to care for this child with so many needs or how to navigate this new world we were thrown into. The first year was extremely difficult. There were so many doctor appointments, surgeries, emergency room visits, therapies, hospital stays…it was completely overwhelming at times and very scary because so much was still unknown. There was no CdLS Clinic back then, so coordinating doctor appointments and making sure we had all of our bases covered was challenging. I know there is no way we could have provided the level of care that we did for our boy if we hadn’t had the support we had from the CHOP staff and especially the support we received from the genetics team.
A great deal has been learned about CdLS since Andrew’s birth. The discoveries Dr. Krantz and his team have made in the genetics laboratory and clinics are paving the way for a much smoother process for families to provide the best care possible for their children. It’s still scary when faced with a diagnosis for your child, but the future is brighter because of all of the hard work and dedication that has been done to learn as much as possible about how to best help children like Andrew. The discoveries they are making will allow us as parents to be more proactive in our children’s care and development and allow our children to live a healthier and fuller life. We are thrilled and honored to be part of this!