So last Friday I took Joe to IU School of Optometry to get his vision checked (again). We saw an intern and a supervising doctor. They did similar things as last year (showing Joe pictures to see if he looks in the correct direction, looking in his eyes with their little lights, dilating his eyes and checking his true prescription, etc) all with the same result. Joe's eyes are working just fine, slightly farsighted but that is totally normal for his age. They can find no reason for his lack of eye contact. So, while its good to know his vision is good, but its not real helpful at this point.
Joe had blood drawn in January for some genetic tests. We were told they were extensive tests that would take awhile. So after awhile I called and tried to get the results. No one got back with me. So I called again awhile later. They said the doctor was on vacation and that he'd look over the results when he got back. No one got back with me. I tried again last week and the girl I talked to said there was no record of me ever calling before. She said she'd email the results to the genetic neurologist we had seen for him to interpret and then she'd get back with me.
Well, she did get back with me on Monday. Only not with test results. She said that there was no record of the tests ever being done. She said we'd have to come in and get his blood drawn again and have it sent away to do the tests. No apology. No nothing. Just matter of fact. I was very unhappy to hear that. Isaac called Clarian West where we had the blood drawn and checked their records (which is connected to Riley and they have access to). They did a few tests in house but did not even draw the blood that was supposed to be sent to a special lab for testing. Then he called Riley again. They said that on Friday the doctor would discuss the results of the tests that were done, and we'd have blood drawn then for the other tests.
So... we just got back from our appointment with the genetic neurologist. Basically there is no news. Just more tests that are normal and got blood drawn for the tests that were supposed to have been done already. I felt a little better about the blood test mix-up after the doctor was apologetic, even a little embarrassed by the whole thing and double checked the new test orders to make sure the were getting done correctly this time. We are testing for Angelman Syndrome. Seizures seem to be a big sign/symptom of Angelman's and Joe has never had any. The doctor does not think Joe has traditional Angelman's but might have an atypical kind. There is no cure for this. But we will just have to wait and see. Beyond these tests he said further (and probably invasive) testing would probably be more for our benefit than for Joe's because if it is something like a mitochondrial disease or something there may be no cure or even treatment.
I've been uncharacteristically calm following this visit to Riley. I'm usually a mess after these kinds of doctor's appointments. I guess I got it all out of my system before the appointment this time. ;-) That and I had a couple of good friends praying for us. Thank you all for your continued prayers concerning Joe.