Angelman Syndrome

[~ 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.

[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 :-)

[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*]

WOw, that is definently scary stuff...
Huge 's thats alot to deal with and absorb, not me but for youand then to deal with it on a day to day basis.. your amazing..
He is truly a work in progress and such a little fighter!! he sounds amazing.. Like his fighting for the norm, even though he doesnt know what the norm is? Does that make sense?
Yeah i get what you mean with medications. my ds has ADHD, nothing compared to what your going through, and he is very trial and error, his been on 4 different medications to find what suits him and even now they are right for him, its bringing unwanted effects that will have to be maintained with other stuff. Unfortunately, his still undergoign diagnosis, but hopefully his will be one and not a whole lot.
Can i ask also, What about you? Do you feel like you can handle this? Although you already are, its hard to say on here lol, i mean are you able to do this unaided? Hope that makes sense..?
Do you have to have training to help with meds and stuff?
What day to day dealings do you have to do? Like physio? speech therapists?
Also do children with Angel men, have problems with hearing etc?

It just sounds like you really do have your hands full, but you ar doing such a great job that i dont ever think to ask people the whats hows and whys? Ya know?
Just seems that there is an under appreciation for mothers that have to do so much and not get any recognition for it..

I must sound weird lol, sorry, its just ive been following since you first posted and its such a rare syndrome that light isnt shed on this condition enough, well not enough as it should be.

[Dansta]

Do you have to have training to help with meds and stuff? kind of. the fit drugs we did have to go though some training with one of them - the medaz as its tecnicly an IV drug, which we have to put into the mouth so its aborbed by the membrain in there. but the rivitril no. mind you getting the 'drops' out of it is a biatch in the heat of it all.

What day to day dealings do you have to do? Like physio? speech therapists? none really. once every two week an OT comes out with maybe a speechie/phyiso depandant on what we need. as its part of the Early Childhood Intervention Service we've been hooked up with. but each day we do pop DJ into a walker with a sling to help him understand he CAN walk (as he has fantastic mucle tone) and just getting him to stand more then he currently dose.

Also do children with Angel men, have problems with hearing etc? not that i'm aware of. Dj has a hightened risk (or did) of hearing issues due to the fluid on the lungs at birth that ment AB's. but he can hear. its kind of like with a dog though as his understand of things is very tone based (at this point) so a loud, low "OI, Enough" will make him stop quick smart. and a happy, soft "good boy" will make him understand we're happy with him KWIM?

AFU (And from us, lol)
Last week was horrid. as in the last weekend of june was crud. saterday he was "off" but nothing kind of happened. oh, no he saved it up for sunday. he had 9 fits in 12 hours. off to the hospital as we reached the max. dose of Rivatril and fits where under 5mins so we couldn't give medaz. we saw the pead on monday morning (he was on at the hospital) and he was supprised to see us - as i'd talked to him sunday and given another dose of the rivatril. which didn't do much. so we're now on:
Keppra 4ml X2 daily
Eppilom 1ml (soon to become 2ml) X2 daily

and for fits its the same
over 5mins - 1ml medaz
under 5mins (and more then 1) - 2 drops rivatril and the same 12hrs later.

here's hoping we have hit things on the head right now. its hard with DH at work. i know that its 'our life' but that isn't makeing it easy to face right now.
but i'll pull my socks up and untie the knot in my knickers and deal with it. - what choice do i have?

so for now i'll sit back and watch my earth bound angel take those aided steps in his walker. and admire that. and i also gotta be thankful we got an 'early' diginoius too. most kids they find out between the ages of 3 and 7. Dj was just over 2 when we found out. so i gotta count the blessings i guess,