Angelman Syndrome

[Dansta]

I thought I'd throw it out there. as DJ has (about a month ago) been diagnosed with it.

He's got the delition of chromosome 15 (or part there of. the other part delition is Prader-Willi syndrome)

Dj was diagnosed after we found his development to be very, very delayed (global) so the pead we saw in Melboune had bloods done. the next night we faced our first fit (epileptic) that lasted well over half an hour. three weeks later our second which DJ was incubated for. three night stay at monash he was treated as an epileptic, we started on Keppra.

two weeks later we had an appointment with the pead saying that bloods (bar the genetic one) had some back "annoyingly clear" the genetic one came back as a delition of chrome15. DH and I then had to have bloods done in order to see if it was a random mutation or if it was one of us. after another 6 week wait we got a call (three days before our big move) it was angelman syndrome. (thus my gene is faulty).

part of angel man syndrome is poor sleeping. (we get 7hours if DH co-sleeps with DJ) always happy (but he is like a normaly 2 year old and becomes Mr cranky-c-pants when told no (but its quickly forgotten) he also loves chewing on things, drools alot and will have more fits (he had 8 in one night due to a cold) he also has hyperpigmentation - meaning that dispite DH being brown hair, brown eyes and tanned DJ is white haired, blue eye'd and pale skined (much like me but i have brown hair) he cannot talk (can make noise) cannot walk (unless aided) and cannot feed himself (much other then bikkies) but he is a happy little boy who is very gentle with his younger brother. as a baby he has issues, fluid on the lungs post birth, toung tie, feedinng issues (common with angel men babies) also failure to gain weight (maybe due to back ground fitting) combined with really, really bad reflux until just over 18 months and as i said global delay, he also "flaps" when he gets excited or over tired and he sits froglegged at the moment too (that list seems long when i read it back to myself!)

we started early intervention in melbourne but we moved (three hours north) so we will have to start it up again after easter. but hopefully we will be able to help him to walk unaided by four (my reading suggests this is the 'normal' age for angelmen babies to walk) and have 10 words by around 5. and hopefully feed himself too.

I am not saying i know it all. i have much, much reading todo but i thought i'd throw this out there. (massive step for me as i not long told extended family) and see if any other mums had babies with angelman or Prader-Willi syndrome on the boards even if they're just looking around i thought it might help them come forward. because as any mum and dad will tell you raising a child is hard. but some times this angelman syndrome can make it that little bit harder. but as with all babies one smile and its all worth it...

[Sterla]

I just wanted to reply and say I am in awe of you Dani. You have shown such strength through all this, DJ is a very lucky little man to have a mumma like you.
Much love to you and your gorgeous DJ.

[~mamaspice~]

Oh thanks for sharing this Dansta, I had not even heard of Angelman syndrome. It sounds like you've had a rough trot with your little guy.
It sounds like he's a beautiful little soul.

[Olive]

thanks for sharing darl xxx

[mummy of 3 boys]

oh Dansta, im also in awe of you, as much as you sound like that you have been through you talk like its nothing new

im so very sorry i don't have any help with this but i just wanted to let you know how much your determination comes across in that post to get the best for your lucky little man

sending love to your little family!

[Danielle_NZ]

Thank you for bringing this disability to so many people's attention, it must be difficult dealing with so many different challenges and still sound like your smiling.

Cause you do sound like you are... One special lad there having a mum like you.

[~ Zarava Flutterby ~]

Hun, your boys are gorgeous, your an amazing mumma and I hope you have someone else to discuss all of this with.




Sent from my iPhone, more than likely while I should be doing something else!

[Dansta]

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.

[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.

[Trillian]

Thats a heck of a lot for you and your DH to absorb

[Dansta]

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.

[Trillian]

What an awful name. I'm glad they changed it. Have you joined the Angelman association yet? I had a google to find out more about it after I read this thread and they at least have an Australian support network for parents which would help immensely I imagine. I guess too that because he's always been like this, you've already done the hard yards in learning how to deal with his little quirks and do what works best for you as a family, it's just that now you have a name for it

[Nai]

Dani, you and your DH have been through so much and have been so strong for your DS. I hope the early diagnosis helps you and him.

[LionsandBears]

I have heard of Angelman Syndrome. I remember seeing a program on it and someone well known like a sports star was on it as their child as Angelman. I cant remember who, I'll look it up. It must be tough to come to terms with. I know they are generally happy children despite their disabilities and bring a lot of joy despite the extra care needed.

I hope you have a lot of support for the tough times.

ETA: this isnt the celebrity I was thinking of, but Colin Farrell the Irish actor has a son with AS.

[*Sparklez*]

Dansta, i couldnt read and not post..
Wow, you are an extroadinary mum, and a huge hug hun.. no matter if you know now or found out later, its still a huge weight on your shoulders. But you know now, so there is alot of avenues for you to explore, His vey lucky to have you as his mumma, you sound absolutely amazing.. I dont know you that well and i cant say we have really crossed eachother, but you have taught me something today i never knew about, so Thank you..
Gl to you and your DH as you take this journey, and please even though you have plenty to read and stuff, if you dont mind please keep sharing your journey with your gorgeoous Dj.

P.s Im also happy they changed the name.. I couldnt imagine labelling a child with puppet child syndrome, just sounds and looks wrong..