I realised that I left everyone with a bit of a cliffhanger yesterday. Would the paediatrician declare that Lil Z has CDKL5 or not?
Unfortunately, he couldn’t give me an answer. He checked the computer records and there is nothing there. But, he said, they often submit their reports in hard copy, rather than electronically (at the moment I’m beginning to think they have also dispatched it from Perth by carrier pigeon). However, because the paediatrician isn’t the one who actually requested the test – her neurologist did, for no reason other than I saw the neurologist shortly after we had our genetics appointment. So, the report would go to the Neuro instead of the Paed.
To make it even more complicated, our Neuro has been off on sick leave. So, the report may be laying unopened somewhere. Bizarre to think information so important to us could be simply sitting in an Inbox somewhere.
Fortunately, he understands that this is important to us and that we’ve been patiently waiting for a long time for the results. So, the paediatrician is going to phone the laboratory to find out if they have completed the test yet – and if so, what is the result. This is likely to take a few days, though, so we might hear back next week.
So it looks like we’ll be hanging over that cliff just a little bit longer…