Bianca X!

Bianca eats, sleeps and poops

 

Cornelia de Lange

Who?  Cornelia de Lange

Well, we found out about a week or so ago that Bianca has Cornelia de Lange syndrome. It is a rare genetic disorder which you can find out more about at cdlsusa.org. After having gone to a neurologist, we were referred to a geneticist who diagnosed her based on her physical features — short, long eyelashes, very defined eyebrows that meet, short upturned nose, etc… Bianca does seem to be on the mild side although we will be going through lots of checks (eyes, ears, heart, kidneys…) to make sure all is well. She should be getting physical therapy soon also to help her develop her motor skills.

On a lighter note, she is enjoying eating her mushy foods and making a big mess! She took her first plane ride and also went swimming for the first time at the Palms in South Beach (nothing like doing it in style!) We’ve found out since then that cdls kids enjoy swimming so we’ll have to go more often.

Filed under : cdls,updates
By kp
On April 11, 2008
At 6:21 pm
Comments :1