image courtesy Sheila Kambin

image courtesy Sheila Kambin

From the first time Dr. Sheila Kambin laid eyes on her newborn son Aidan, she knew something wasnt right.

Aidan had a sacral pita dimple on his lower backand low set ears. He was full term but weighed just 5 pounds and was sent to a neonatal intensive-care unit (NICU) where he was evaluated for low platelet count, low blood sugar, problems with temperature regulation and feeding.

He was never able to latch, but I never knew why, she said.

At just 4 months old, Aidan had surgery to repair an inguinal hernia, a bulge in the abdominal muscles. He also had ligament laxity (loose ligaments), hammer toes, distinct facial features, long tapered fingers, and the uvula in the back of his throat was split into two. Kambin later learned Aidan had a submucous cleft palate, or a cleft palate covered by a membrane, the reason for his feeding troubles.

Perhaps one of the most concerning symptoms to Kambin was that Aidan wasnt reaching his developmental milestones.

We started to notice he was delayed by about 6 months on every single one of them, she said.

His preschool teacher was also concerned.

His teacher said, Ive been teaching preschool for 30 years and Im not sure what exactly is wrong with Aiden but something is wrong with him.

See the original post here:

Genetic disorder discovered