Guest guest Posted December 15, 2003 Report Share Posted December 15, 2003 Rochel, congratulations on the birth of your baby. How did you find the list so soon? Did someone at the hospital know about us? How nice that your father is with you to help our and lend support. I hope the heart cath/surgery goes well today. I am the genetic counselor with the CHARGE Syndrome Foundation. A couple of comments on 's conditions: 1) polyhydramnios is very common with choanal atresia (not just esophageal atresia) - even in the womb, babies are " obligate nose breathers " - so if the nose is blocked, they don't " breathe " as much amniotic fluid and it builds up. Be sure they look for an H-shaped TEF (tracheal esophageal fistula) - the esophagus isn't blocked, but it connects with the trachea, which is a major risk for aspiration pneumonia. 2) How wonderful that she is sucking. Maybe she won't have the feeding problems. She probably won't be able to eat by mouth until they open up the choanae - you are right that she can't breathe and eat at the same time if she can't breathe through her nose. 3) if they are doing another MRI to look at the choanae, ask them to look at the inner ear as well. Many children with CHARGE have what is called the Mondini defect, where the cochlea (snail-shaped organ in the inner ear which is where the nerve transmissions to the brain occur) is malformed, typically in CHARGE it has 1-1/2 turns instead of the normal 2-1/2 turns. Also, the semicircular canals (responsible for balance) are often small or missing. Information on the inner ear from the MRI will give you some idea of hearing and balance status. 4) How nice that the ophthalmologist didn't predict anything. So often, doctors take test results and make blanket pronouncements that turn out to be less than the full story. Even with significant vision loss, many kids have lots of " functional " vision - they make maximum use of what is there and do much better than, for example, and adult who loses that much vision. Hang in there, and keep us all posted on your little treasure. Meg Meg Hefner MS Genetic Counselor St. Louis MO meg@... Quote Link to comment Share on other sites More sharing options...
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