I had never heard of this condition until Ben was diagnosed, and then my niece-in-law mentioned that she'd had a Trachea Esophagus Fistula (TEF) repaired when she was a few days old. She is now in her mid-20s with children of her own. Many health care professionals we have met are unfamiliar with EA/TEF, which shows how uncommon this condition is. To simplify, it encompasses one of the 5 groups of defects below where a baby is born missing part of the esophagus (EA) and/or has a fistula (TEF) connection between the esophagus and trachea. Ben was born with pure long gap atresia type A, which is in the 1st picture below. He is also type A2 since he has a little portion of his lower esophagus as shown in the 2nd photo.

Children with types C, D, and E are mostly repaired within a few days of birth, although they often face a life with complications related to an abnormally developed esophagus or a strictured connection that requires repeated dilation to keep food from getting stuck on its way to the stomach. Types A and B, shown in the 1st and 2nd photos, are missing a significant portion of esophagus and must wait for repair until the two ends grow close enough to be stretched and reconnected.

Many children, such as Ben, have a genetic component, such as Trisomies 13, 18, or 21 (Down Syndrome). This disorder is also a piece of the VACTERL syndrome, which is a group of defects that are found together in the same baby. VACTERL stands for: Vertebral defects, Anal atresia, Cardiac defects, Tracheo-esophageal fistula, Renal anomalies, and Limb abnormalities. In Ben's case, he also has a minor congenital heart defect, and his right hand has some minor abnormalities.

CHARGE syndrome can also apply to babies born with Esophageal Atresia. CHARGE stands for: Coloboma—of the eye, Heart defects, Atresia—of the choanae, Retardation—of growth and development, and Ear—abnormalities and deafness. As I mentioned, Ben has minor heart defects as well as retardation of growth and development and outer ear abnormalities. I'm not positive yet which syndrome applies to him as they seem to overlap. This will be determined by more testing later on.