Thursday, September 27, 2012
2 steps foward and one back...
I guess at least it's not one step forward and 2 back, though at times it sure feels like it. The good news is that Aubrey graduated from PT and OT today. She is where she should be with her gross and fine motor skills! She had a good time showing off for them today. She will continue to see the speech therapist for the foreseeable future, but I knew that we would be continuing with ST. The not so happy news came from our genetics appointment this afternoon. I went in fully thinking we would be discharged from their practice because all her tests have come back normal and her development, except for her swallow, is on track...but I was wrong. She wants another test run to test for PTEN syndrome. I've avoided Dr. Google, at least for now, because I know it will likely be a few weeks before our insurance approves/denies it and then at least 6 more weeks once the test is run....so to save what little sanity I have left I'm not getting on Google. I debated allowing the test to be run, but decided for a few reason's to do it...1. there is no poking involved, they can use the blood sample from her last test for this test. 2. if she does have this syndrome the doc said that one of the problems is an increased risk of early onset breast or endometrial CA. So, I feel like I need to know if there is a problem because at least then we know to watch for the "side" effect problems. 3. I have this need to know or not know that something or nothing is wrong with her. It's frightening because both her geneticist and her neurologist are convinced she has some type of syndrome. When I asked today why she feels Aubrey has a syndrome she said some of her features/characteristics are "peculiar"...not sure how I feel about saying my kiddo is peculiar, but it is what it is I guess. Tomorrow we head back to Akron for her follow up with her gastroenterologist and for another MBS. The MBS worries me as we have never gotten good news from it...each time it has showed a decline in swallowing/increased aspiration. I was all ready for it and then today's appointment kind of knocked the wind out of my sail. Tomorrow is also Brooklynn's 3rd birthday, so good or bad results tomorrow is about B :)
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