I haven't been able to get on here lately due to some scheduling changes and being very busy. I start school next Wednesday but I promise to try and keep everyone updated. Let's jump right to the chase.
We have had a recent change of events. Back in February, we received the diagnosis of 22q13.3 Deletion Syndrome for Zoe. On April 7th, we saw her pediatrician who told us the test result was negative. I told him we were told positive, and so he gave me the report. It turns out the lab at the hospital accidentally tested her for the wrong chromosome deletion. They tested her for DiGeorge Syndrome, 22q11, instead of Phelan-McDermid Syndrome, 22q13. That same afternoon we sent Zoe for another blood test. Yesterday, just three weeks later, our pediatrician's office called to say the 22q13 test was negative, it was normal. Baffled, was I, because the lab had told us with the original test that the FISH test would take 8 weeks to complete. This test took only 3. So I called the lab and they told me that, yes, it should have taken 8 weeks, and there is a possibility they did just a simple blood test. Currently, Zoe's file and testing is now sitting with both the Genetics Director and the Hospital Director searching for answers as to why there is this confusion.
So now we do not know for sure if Zoe has the deletion or not, and we are not going to poke her anymore. We decided we're just going to wait to see our geneticist in July and get the results from the microarray test instead.
On another note, Zoe has been starting to have what we think are absence seizures. She will be playing happily and blank out, staring at the ceiling. It takes a few seconds to get her out, and she will not respond to us yelling her name. When she does snap out of it, the entire upper body twitches and her shoulders and head shake as if she's shivering. While we know this could be nothing, we'd still like to have a test done to find out why and if anything is happening. Her pediatrician says he will not send her to a pediatric neurologist until her genetic testing is completed. We have since contacted her geneticist asking for a referral.
Other than that Zoe is doing very well with speech therapy. We are well into our PECS program. We attempted to implement the program into the home which did not go over so well, due to the unfamiliar environment. Instead, we are continuing weekly sessions at the Centre, and working on travelling. She's still a little confused with travelling and requires hand prompts, but she is doing very well and is very enthusiastic about the program.
Zoe has also started Occupational Therapy to address her sensory delays and issues. We haven't started on anything specific, except trying to get her to do more structured activities also implemnting the PECS programs (we let her choose the activity through her PECS boards),