May 26, 2009

Visit with an Otolaryngologist

Today Bertrand saw otolaryngologist, Dr. Fredrik Grimmer, an Ear, Nose and Throat (ENT) specialist. Using an endoscope, Dr. Grimmer learned some important things about B.
  1. Bertrand's larynx is still inflamed from acid reflux, which went a long time without treatment.
  2. Bertrand's palate doesn't touch the back of his esophagus.
A short palate is a symptom of another genetic disorder called Velocardiofacial syndrome (VCFS). However, Bertrand doesn't have any of the other symptoms like heart problems or facial deformities. Also, it wouldn't explain his movement disorder, liver values, or lack of tears.

Aside from causing his spit-up to go out of his nose, a palate issue is a speech impediment since it prevents hard consonant sounds. We'll be working closely with Bertrand's speech therapist, speech pathologist and feeding therapist to work through this.

Dr. Grimmer will be following Bertrand's case with at least one annual visit. In a few years, if his speech doesn't improve through therapy, B will undergo surgery to narrow his esophagus to enable the palate to reach all the way.

Friday, Bertrand will be undergoing an esophagram to check for achalasia. Dr. G said that he has only ever seen achalasia in adults and a negative result now doesn't rule out that it may develop in Bertrand later.

P.S. - I'll be posting a summary for last week sometime tonight! Hopefully. :)

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