Hi there folks!  Firstly, thanks to those that have found our website and made contact with us!  It's been great to hear from your all, and also to meet up with some other parents and relatives looking for information.

Beth had her second round of immunisations a little while ago now, and did have a little bit of a reaction to them.  We decided to give some panadol to her beforehand, as last time she had a bit of a temperature and high temperatures/fevers are something that is associated with triggering seizures.  She was a grumpy little girl for a few days there, not her usual self, and one of the injection sites on her leg came up with a nasty red lump that took a couple of weeks to go away.  Thankfully, she's all back to normal now.

We also visited the paediatrician again, he checked her over and was happy with her progress overall.  The problem is that it is difficult to understand just how well she is doing because the expectation is the she won't do well... which is a little annoying. Really brings home something we've heard now a number of times, that as parents, we will become the ones that understand Beths' progress and abilities the best; Doctors look at the condition and may not expect much progress and in some cases "give up" and not even encourage it, on the basis of they don't want to raise false hopes.  We are of a different mind set though - we are going to hope and pray and encourage Beth in every way, and we just know she will surprise us all more than we think!

Beth's been waking up a little crying and then sometimes going straight back to sleep, other times just calming but staying awake.  Not too regular an occurrence, but neither the paed or neuro could offer any suggestions.  She's also taking to sticking out her tongue a lot more - even when playing, not just feeding - no real suggestions for this either, but it could be that she is starting to develop some of that "stick everything in my mouth" type of exploration, but she hasn't got the hands grasping enough to pick up things yet...

Speaking of the neurologist, our DNA testing results came back, with mixed results. It seems that Beth's Lissencephaly is the more common variety, which is a deletion/mutation in the LIS1 gene.  The good news is that this is something that is a random deletion rather than a hereditary one, so this means that any other children we may have are not really at any higher risk of Lissencephaly than anyone else.  This was and still is one of the BIG unresolved issues we are coping with - having further children or not, but this result opens the door up somewhat.  We are booked in to discuss further with a Dr specialising in genetic counseling, so will understand this result more fully then.  The other thing the tests showed was that it does appear that Beth has a variant of Lissencephaly known as Miller-Dieker Syndrome (MIDS).  Dad was suspecting this from some things he had read and from Beth's cranial features - her temple was a little pinched in...  We don't know fully what this implies but  MDS is generally a little bit worse than Isolates Lissencephaly Syndrome...  we are still waiting on the letter from the Neurologist which will hopefully give us the results a little more clearly to look up etc.

Otherwise, just generally, Beth's head control is still improving, and she is showing the first signs of a roll - lifting her legs in the air and then sort of falling them over in one direction, but it is still a little ways of a full roll yet!  She is still a happy girl, feeding well, although a little noisily!

We have been keeping a lookout for seizures - the Neuro says you basically won't miss them.  We have been looking for any repetitive type action where Beth goes absent, clenches up, jerks or otherwise.  Over the last month we have seen some strange "startling", generally after feeding, as she is falling asleep, particularly when we are holding her upright.  So we would feed her, then hold her upright to rub her back/burp her, and she would all of a sudden, and repetitively jerk her arms and legs out, and head back.  Although we both thought this was simply a startle - you know when you just go to sleep or you touch something during sleep and you startle back awake a little - we were a little worried whether it was a seizure or not.  We videoed it and showed it to the Physio, Paed and Neuro and all agreed that it was just a startle.  Also the fact that it was only occurring after feeding as she was sleepy and that they stopped pretty much as soon as we laid her back against us, or down onto her bed, also seem to confirm this.

Beth's also had a couple of showers with Daddy now, instead of a bath.  At present she's not entirely fussed on them, but she does seem to enjoy the shower on her tummy and back.  Her head is a different matter though - she does not like that at the moment, so will have to see how she goes.  We have been thinking about maybe taking her swimming a little bit - she does like her baths in that way, so she might like a little swimming.