Angelman Syndrome

[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,

[Jomaxbilly]

Hi Dansta,

I just came across your posts, I have a 6 year old son with Angelman Syndrome, his name is Billy and he was diagnosed at 20 months. Billy is in his second year of school now, he walked at the age of 4 and 4 months, he is very vocal although he only really has 2 words but he is learning to communicate using an iPad woth an app called TapSpeak choice. We live just out of Melbourne in the Yarra Ranges and have a few other families in the area with kids with AS.

I'm not sure how interested you are in finding out more but there are some great things happening at the moment in research and also events being organized so that families can meet and share info as well as lots of Facebook groups etc. Here are some links you may be interested in

FAST Australia (Foundation for Angelman Syndrome Therapeutics) Foundation for Angelman Syndrome Therapeutics Australia
If you sign up as a supported, you will be sent updates and newsletters with new info and events

Facebook groups -
Angels in Oz
Foundation for Angelman Syndrome therapeutics
Angel connections
These groups will eventually link you to other groups and to families all over the world if you want

There is also a Gala organized for the 23rd of March in Sydney where a lot of parents from around Australia will have the chance to get together and all funds raised go to FAST AU.

If you would like to talk or catch up at any time, please feel free to contact me. I'd love to hear from you and I'm planning to hold some sort of event in Melbourne later this year ( maybe a picnic)