Angelman Syndrome

[Inertia]

Thanks girls. Yep its nothing new to me in a sence. Dj is my eldest so to compair him to any other kids was hard. But it was and still is mine and dh's reality. Our normal.
Angelman syndrome was originaly puppet child syndrom. Thank goodness it was renamed.

That is it exactly, Dan. The ONLY thing new to you is the name. This has always been the case for you. Learning the name changes very little.



You are completely amazing. I am not facing angelman, but just that I could be facing anything that has a name has me sad. I have moments where I grieve the dream. You seem so much more pulled together compared to me.

[Kazbah]

Thankyou for sharing Dansta - I remember seeing a family doing the run for the kids for their angleman son.

[Dansta]

Thanks again girls.
I checked out colin he said it was 'a type of cerbralpalsy' which angelman is not. Its a faulty copy of the maternal chromosome 15. It is its own thing.

I have looked at the angelman foundation website but it seems more like people from over seas. I guess its to be expected when its a one in 20,000 to 80,000 depending on the study you read. Hopefully in time, i'll find some local people with earth bound angels too.

Honestly the hardest part so far was the emence disapointment my fil showed when we broke the news to him and mil. People where we are now just see dj as happy. In melbourne a mother with her dd dj's age stared for half an hour at djs flapping. Broke my heart...but she had no idea.

Angelman was orginonaly named puppet child syndrome because if you look at dj flapping his arms are strait, hands floppy. His legs the same. He is also almost always smiling. But I have told dh if any one calls dj a puppet to mock him they can have a black eye. When dj had his fits last week I did have to explain to the ambos and pead in the hospital that puppet child = angelman. But hopefully we wont need to go through it again any time soon.

The hardest thing for dh and I is that to get more than 3hrs sleep a night dh has to co-sleep with dj on a matt on the floor. We do hope to move it into our room soon though so at least dh and I can sleep in the same room. Daysleeps are ok. We get two hours sometimes...

I'm glad that by telling people about it i'm opening up eyes. Its not an easy road...but I guess signing up to being a mummy isn't always easy. Hopefully in time i'll be able to share the mile stones, should we reach any. No doubt i'll share the tought times too. As dh and I are currently weighing up if an mri is needed knowing its angel man syndrome or not.

Thank-you for your support though. It means so much to me.

[ferrals5]

While waiting our genetic testing on ourselves and our daughter i reserched angelman syndrome and prader willi syndrome as we were given a few different syndromes that our daughter could of had and they were pretty awful syndromes i am sorry your son has them our daughter was diagnoised with the extreme form of smith lemli opitz syndrome and DH and i are carriers sadly our girl is not with us.
I wish i new what else to say other than reserch and find a support group they did wonders for me.

[Teeki]

Wow Dansta, I have nothing but respect for you. You are incredibly strong - I think a lot of the time these things affect the parents so much more than the children. This is just life for DJ, he doesn't know any different. It does sound as though he's a gorgeous boy.

Many years ago my Mum did respite care, where she'd look after disabled children for a few days at our place while their family had a bit of time out. The first child who started coming to us regularly had Prader Willie Syndrome - I'd never heard of it til then. He was 13, but seemed younger. He came to our place regularly for years, and he was an amazing guy really. He's now 31, and the Syndrome hasn't stopped him doing what he can - he moved out of home (to a local group home - just a regular house where the tenants have extra care) and got a job. His symptoms were quite different from how you've described Angelman's, it's interesting that they're kind of related

[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.