Lissencephaly or other brain disorders

[anjelaszka]

Hi all,

My daughter is 6 months old and has a brain condition called Lissencephaly, just wondering if there was anyone out there with a similar diagnosis.

[kiwibird27]

Not me babe sorry..want part of my brain????? LOL

[anjelaszka]

You know what I mean smart *** :) How's Meegan? Fi says she's going home over the weekend, that was quick, good for her. Do you know when Desiree is going home?

[Miaow]

I hadn't heard of it before but I found this site that could help you with info etc...

http://www.lissencephaly.org/

[anjelaszka]

Thanks, I've pretty much exhausted all the internet info, just wanted to know if there were any Australian families around with children who have the same or similar disorders.

[kiwibird27]

Not for awhile....Home TPN I think!!! No Lissen........families around so far????

[anjelaszka]

No Lissen, didn't think there would be, have found a contact through AGSA though who know about 25 families with the condition in Australia, looks promising, haven't plucked up the courage to call though don't know if I want to see my future just yet...

[MamaRabbit]

Hi ~ nice to meet you. My 2 y/o son has a rare brain condition known as BPNH for short. I read an article about BPNH that also mentioned Lissencephaly so presumably it comes under the same very broad banner. I'm not entirely across it all yet but by the sounds we are likely to come across similar hurdles - particularly with development delays. The info on the internet hasn't been great - I've read alot of horror stories which don't relate to my son but by the same token we really don't know what the future holds - no one does. I haven't found any official support groups as yet, but did meet some families via BubHub.

Happy to talk more if you would like.

Good luck with the research, it can be quite overwhelming that is for certain.

[anjelaszka]

Hi, I've never heard of BPNH, but I never heard of Lissencephaly before either... We're still getting diagnosed properly, were not a priority because I don't plan on having any more children (I have two other girls 2 and 5). My daughter is one of the horror stories (well sort of), she is a gorgeous little girl, extremely developmentally delayed and a lot of uncontrolled seizures but a little angel nonetheless.

[MamaRabbit]

BPNH stands for Bilateral Periventricular Nodular Heterotopia.....you can imagine how I felt when we got that diagnosis! Our seizures are well controlled. Charlie was on medication for 2 years (virtually his whole life so far) - first one didn't agree with him so we changed over and just came off them last month so now we are completely med-free and have also been seizure free for just on 2 years.

The development delay however is another issue. He too is extemely delayed in all areas and we work very hard with various early intervention therapies.

He is very alert and gorgeous to look at. And he is a great little character - very chilled out considering! But he can get frustrated and bored by not being able to do things on his own.

Are you in some sort of early intervention program to help with the delays?

[anjelaszka]

Thats fantastic that he's med and seizure free!

I WISH!!!

We're with DADHC, we do OT and Physio, Speech pathology etc... she's an extreme case though, she cannot hold her head at all, can move her arms and legs but not too much and cannot reach for things her recognition is also not so good, we think she recognises us but cannot be sure, she does smile which is super cute if you can get it. She's also stopped drinking now so we're on a NG tube and will probably be getting a peg in the next couple of months...sigh

Despite all this, she's a pretty happy little girl, wish we could keep her that way for a while this time :)

[MamaRabbit]

I'm pleased your little one is happy, despite all of her troubles. Sounds a little like Charlie. He has certainly had his fair share yet still has the most angelic aura about him. He is having a little op later this week as he has always had trouble keeping food and drink down with reflux, they want to check for acid burn now. Despite all this he is still smiling and throwing up really doesn't bother him (aside from a cringe from the foul taste he just gets on with it). He is very tall and lean but still within a reasonably healthy range.

I know we can't really compare cases but Charlie had troubles holding his neck/head up even a year ago (at 1 year of age). He is now 2 and has just started to sit and prop himself and is exploring a little more, until now he had little interest in toys - it was easier not to play with them, his balance is not so good but the past year we have seen huge improvement in all areas. He is still very delayed for a 2 year old and crawling and walking (and talking) are still a long way off, but in our book he is going great guns.

Keep up with the physio etc, it's a really long, slow process, often you plateau before you peak but it does happen slowly but surely.

Keep up the good work.
:thumbsup:

[anjelaszka]

We're also going back to hospital shortly (next monday actually), Agnieszka has ureter reimplantation surgery and we have to remove the stints they put in during the surgery (nothing major, she just had severe urine reflux into her kidneys which should now be fixed). I'm also hoping that once we get the seizures under control she will be able to start working on head control etc... not easy to do all these things when you're having seizures most of the day.

Thanks for the encouragement, I wish you and Charlie the best of luck.

[will&samsmum]

Hi...I have a little boy named William who has a rare brain condition called Periventricular Nodular Heterotopia. He is 2 3/4 and has uncontrolled complex epilepsy as a result of this condition. He has a seizure about evry second day and is on lots of medication to try and control the seizures but unfortunately they can't seem to fing the right medication to stop the seizures. William is also very developmentally delayed. He has Physio, Speech, Ot and other therapies weekly. He doesn't walk or talk yet but hopefully one day he will. William is also a very happy little boy....a gentle soul. His head/neck was very floppy until he was about 1 1/2. He sits up by himself and bum shuffles across the room. He babbles and screams heaps but cannot talk although sometimes he says Mum (but I don't think he means to!!). The seizures are the worst thing about it all. He has all sorts of seizures ans we use Midazolam up his nose to stop them. Anyway....just thought I would say hi and let you know you are not alone.

Emma :wave:

[Amanda Hanna]

Hi there,

My name's Amanda and I have a son who's almost 3 years old (July) and has PNH and a malformation of the hippocampus. Luke has seizures (controlled on and off) and is very delayed also. At 6 months Luke couldn't hold his head up at all. It has been a long, slow process and the therapy is driving me crazy, but he is now sitting and playing with toys and standing with help. He is very communicative (non-verbally) and is desperate to walk. He throws one leg in front of the other in a clumsy sort of waddle. He is a very determined, delightful, happy little boy.

He is my third child also - the one who was supposed to raise himself! You never know what you're going to be dealt in life, do you. But I know some kids who had developmental delay as babies, all for different reasons, and they all ended up walking and talking and functioning as normal children so I'm patiently biding my time and trying to enjoy the journey, and my lovely little Luke.

Luke also has a gastrostomy tube due to swallow issues in the past. He was eating ok at 8 months but as soon as he started the epliepsy medication he began aspirating so we had no choice but to get the gastro. He's on regular food and drink now and we only use the gastro for meds. We were devastated when we first had to get it but it was actually a relief once we had it - we knew at least we could get food into him in a safe manner. He was failure to thrive but with the NG and then the gastro he gained weight and is now normal for his age. Now we want to keep the gastro as long as possible for the convenience. It's hard to watch your child go through all of this but it's not forever and she will grow into a strong little girl in time. Luke has had eye issues and reflux also but they have corrected themselves for the most part. I think the muscle weakness affects everything but they grow stronger and things start to get better all round. It just takes time and lots of hard work. But worth it in the end!

God bless you and your little girl.

Amanda

[MamaRabbit]

Hi Amanda....good to see you on bubhub. I nodded through most of your post. Who knows what our little ones will be up to in a few years time....it's hard work, but the potential is exciting.

[shanmickbre]

Hi, my name is Shannan I have a daughter who just turned three in April and she also has Lissencephaly. Would like to hear from you!!