Meet Madison, a very happy and active almost 23yo young woman who was born with CdLS and diagnosed with a change in the SMC1A gene. She has been healthy and is active in Special Olympics where she plays four different sports. She loves music and dance and regularly enjoys both with her special needs dance class.
Madison is approximately 5’2"; she is quite tall for a person with CdLS. Her head, hands and feet are small, and has adorable little ears. She has the classic CdLS eyebrows and beautiful long eyelashes. She has webbed toes (2nd and 3rd toes) and curved in baby fingers (5th digit clynodactyle). She has an intellectual disability but is probably the smartest person I know. She reads at about a grade 2 or 3 level. Math is definitely not her thing and she does not have a grasp of money or adding etc. She loves music, dancing, her iPad and new cell phone. She will talk your ear off if you call her! In person, she is quiet and doesn't say much (except to me) I think it is a confidence and anxiety issue. She has a ton of friends (because I run a group for teens and adults with disabilities) and she loves her friends! She is so sweet, kind and really, really funny. She has a great sense of humour and can even be sarcastic. She is neat, clean and follows rules to a “t”. She is the best hugger ever. She has some anxiety but once she is comfortable in her environment, she is fine. She is for the most part the happiest person I know. Madison is always smiling. Since about the age of 18, we have seen some tantrums or behaviours but she is very easily distracted or redirected into a happier place. She has two sisters, neither of who have CdLS.
(written by Madison’s mom Elaine)
Meredith was diagnosed with CdLS at 6 months old. She has a change on the HDAC8 gene that causes CdLS. Meredith was born weighing 5 lbs. with a cleft palate and really struggled to gain any weight. She also has some hearing loss and just got new hearing aids that she loves. Meredith had her palate repaired at 18 months but it reopened, but she continues to eat well. Meredith is otherwise relatively healthy. She just started to have issues with acid reflux. Meredith is struggling to walk on her own but walks well in her walker. She prefers to stand or walk on her tippy toes at all times. She does not like to be flat on her feet. She is non-verbal for now but I believe she will learn to speak a few words. Meredith loves books, music, watching Nascar and Sesame Street. She also loves swimming and snuggling (when she feels like it). Overall she is a happy sweet little girl. She likes to make people laugh and smile and loves to be gushed over.
(Written by Merideth's mom Tiffany)