Timothy update

Here's what went down yesterday: Appointment with the geneticist went very well although very stressful and scary at times. They believe this calcification of his airway is either 1) a hormonal issue, 2) a disease known as Keutel ("coid-al" is the way it sounds) Syndrome, or 3) just something that's happened for no real medical reason. Blood was drawn yesterday (unbelievably horrible experience) and a urine sample taken to rule out the hormonal issues. We should know the results by Monday at the latest. All the hormonal issues it could be are not life threatening or even something that would affect his quality of life according to the geneticist. To determine if it's Keutel Syndrome, several tests have to be performed. Keutel is a "clinical" diagnosis meaning that there isn't any one test they can do that says he has it or he doesn't. They take a physical exam coupled with several other tests to see if all the pieces fit together for this diagnosis. The tests he needs are:
1) a neck x-ray (done yesterday),
2) a chest x-ray (done yesterday as well; both x-rays taken to look at the bone development as Keutel tends for bones in both places to be more calcified that normal),
3) an ultrasound of the heart and an EKG (I can't remember why this is necessary but I do know that he said -- several times -- that this isn't life threatening nor something that would require heart surgery; he said something about being "just another piece of the puzzle"),
4) a CT scan of the middle ear bones which requires sedation so they will do this the day of surgery (May 16).

Keutel Syndrome is not life-threatening or even very serious but is associated with moderate hearing loss. Once we have all the pieces of the puzzle and once his tubes are in his ears, then we will repeat a hearing test to see what, if any, kind of hearing loss he has. If it's Keutel, then we should expect hearing loss. If the hearing loss we know he has now is related to the fluid, then a hearing test after tube surgery should be normal. The geneticist didn't seem to think that any of these tests should delay or cancel the surgery. If there is something going on with his heart, however, he'll have to be "cleared" by a cardiologist for the anesthesiology department before surgery begins but he said he doesn't think that will happen. So, now, we wait. Wait for test results, wait for the EKG/heart ultrasound to be scheduled, and then wait to see if the ear, nose, throat dr wants to change or do anything differently as far as surgery goes. As of right now, we're on for surgery on the 16th as scheduled.

No comments: