Well, hmmmph. Big sigh. After getting ready to know; I still don't. Basically, he was able to rule a few things out. It's not MELAS (which is nasty). It's not glycogen storage disease (which I'd have prefered-the lesser of all the evils), nor is it fructase biosphate (knew it wasn't that though). They've ruled out some other things too. But not my greatest fear. And what I suspected most; PDCD.
Hope has to have a lumbar puncture tomorrow. I did plan to refuse this. Unfortunately, it is necessary if we want to know. And of course we need to, in order to treat it. He is not sure it is PDCD. But that's at the 'top of his list'. ;0(
It could not be that though he said. Other very rare metabolic disorders.
On a positive note; Dr Ch was impressed with Hope today. He could see how alert she was, that she was holding her head well. I told him she was rolling now too. He said she's come a long way since the first time he met her.
So I suppose that's a good sign. I mean, even if she does have a progressive neurological disorder, for the time being, Hope is still actually progressing. Albeit slowly. But importantly, not regressing!
Ps, if u didn't see yesterday's blog please have a look-photos!
1 week ago