Angelman Syndrome

[happyvegemites]

Hi Guys,
I found this thread today while searching for references to Angelman Syndrome on the web in Australia. Im a mum to a little girl with AS, she was diagnosed almost 3 years ago & she is an amazing little girl. Having said that - dont in any way think I like AS!
When we got our diagnosis we found little information anywhere, most people misunderstood the syndrome and that was even if they knew about it at all. We started a National Charity last year, we launched in Brisbane in Oct and hope to announce some Australian research later this year. Part of one of our goals is to increase our web presence so that people can find us and in turn we can help :-) Great things are happening, there is alot of more up to date info on AS that we hope to be able to get online soon & correct the old stuff. Colin Farrell is a great advocate for AS (and is unfortunately often misquoted in things he says). I was lucky enough to meet him in 2009 in Chicago & he is a wonderful, caring dad to his son James. Anyway, Im so sorry to read you have a diagnosis of AS. I think that the pain I feel about my daughters diagnosis is most of the time right at the back of my mind now, but when I hear of new kiddos I feel so much for the families. I also know that there are loads of positives if you can get good networks. If you would like to know more about our Australian Foundation, have any quetsions about anything please contact me. Id love to hear more about your angel :-)

[Dansta]

G'day happyVeggemites.
I dont mine AS. yes, its not easy but my boy, DJ would not be him with out it. I'm a strange one and i'm the first to admit it. i have felt some sadness at the things DJ may not be able to do to. but i embrace all he can do. he can smile, be happy. he is adorable and most of all, he is himself. but i can understand how hard it would be to see other families ride the 'coster of is it, is it not. ect. DJ was just over 2 when we found out. he was our first and honstly, my "normal" (please dont see this as an attack) DH and I take each day as it comes. we cannot be more blessed to have him in our lives. he is an earth bound angel. AS is something that is not widely known about but i tell people who ask all i know about it (thus my post here ) and hopefully i can open the eyes of people who dont know what it is.

And from us
Dj had his MRI two weeks ago and it came back "all normal" - which is good to hear. rules out anything 'else' so my mind is at ease. we have started early intervention too, they have lent us a walker - DJ took 4 (aided) steps forwards with it! i was so excited about an hour later realiseing my little man WALKED! yes it was aided. but the joy...i could have popped! we have also manged to fight a cold off with out a fit so no hospital trips (or drugs) which is fantastic! but i'll be holding my breath until we pass the 8wk mark fit free. DH has gone back to work now, so i'm on my own but i feel i can deal with anyting that happens.
i'm so stoked DJ walked (aided) when he walks with an aid, i'll cry.

[Dansta]

Bah so much for fit-free.
DJ had two today. - ended up giving him Rivatril. ohh the irony at him having one while I went to the GP! at least it wasn't too bad. first was about 2mins (in the car) the second was 3mins. both time he woke, fitted then back off to sleep. so thats one of those things. the annoing part was its the first time i've gone to town WITH OUT the drugs. so half way i turned back and got them - after the first fit. knowing when it rains, it pours with DJ.

If he has another in the next 7 days i'll be calling his pead to ask what we can do. he did talk about another type of drug to add to the one he's currently on. but we'll cross that bridge when we come to it (which i dont doubt we will honestly)

I have also admited i need help dealing with the angelman. as in comming to "true" grips with it. while i understand it and DJ is my "normal" i also - deep down - blame me and i'm often worried about the next fit. when it will be, how i'll deal with it ect. so im getting that help now. while i'm not in over my head i want to face it head on. i need to be strong for me, DJ , Vic and DH. plus i also need to find ways of dealing with what will no doubt come up - the disapointment of Vic doing things before DJ. but i loves my earth bound angelman. nothing and no one can change that.

Upside is DJ has started saying mummummummum and a few other babbleing words. nice to hear mummummummum though.