Angelman Syndrome

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...

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.
:hug: Much love to you and your gorgeous DJ.

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. :hug:
It sounds like he's a beautiful little soul.

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

:hug: sending love to your little family!

thanks for sharing darl xxx

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.

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

:loveshower:


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

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.

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

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.

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 :hug:

:hug: 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.

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.

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..

Hugs Hun & thankyou for sharing :)

Wow, that is a lot to absorb :hug: I'm another who is in awe of you, you are doing such a great job x

:

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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.

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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.

:hug:

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.

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

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.

Thanks for sharing your and DJ's story. I'm sure it makes no difference to his happy little disposition but I hope this gets you and your DH some extra support. I looked up the foundation and the beaming smiles of the kids just jumped out at me. If only more people were as happy as that!

Sending you both strength to help him manage his physical and developmental struggles.

Other ppl won't always understand, I get that. :( I have a 8 yr old foster sister with CP who is very developmentally delayed. Try to ignore what others do or say that is hurtful. They just don't get it. It's their loss because they miss out on wonderful kids like DJ and my foster sister.

DJ sounds like a beautiful young man and you sound like a great mumma. Thank you for sharing your experiences with us; it is one thing to read about an illness or a syndrome in a book, but much more beneficial, interesting and heart warming to hear it from someone who is living the life.

I'm looking forward to reading about DJ's growth and your lives together. Again, thanks for sharing!

I said angelman children are bad sleepers, even worse when sick it seems. 4 hours sleep for 2 and up for the day. Poor dh. Dj is sick with a cough the poor mite. Sadly djs immune system suffers also with angelman. Which makes it harder again.

Its been 3 weeks since the last seasure(s) and I'm now waiting for another one they seem to come when he's sick. Hopefully I'm wrong though...

My mum works with an angelman girl at school, she is about 15 now I think. My mum adores her!

You are truly inspirational xx

well we had another trip to hospital yesterdy/ today it seems djs current 'normal' is cluster seizures. which means we now have one daliy drug;keppra plus two other drugs madazalin for fits OVER 5mins and another starting with R for cluster fits. i feel like a pharmacist!!

dh i think is in part struggling to deal with aspects of it all.24hrs in hospital and he cant really handle it.i got angry with him for his annoyance at our nurse for making the jr doc re-do our action plan due to very poor english.

dj though it seems will be 'an interesting study' due to his atypical seizure presentations. hopefully it will help them understand angelman.as at the moment they know little odds and ends.

heres hoping for a better nights sleep.

Huge hugs Dani :hug:. Sending you lots of strength and love. Thinking of you.

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.

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

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 :-)

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 :D ) 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 :dance: 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.

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.

Nawww dansta :hug:
I was just thinking of your little man today..
He Sounds so gorgeous! Your a great mum, a child with a medical condition Is never easy, but they ate so much more lovable, how is his walking going? So good to hear Jim saying mum!!! You must really feel the part now? :)
And boooooo to fits, poor guy...
Can I ask?
Does he know his had one?
Does it effect him afterwards?
Apart from medication is there anything else you can do?
Sorry I'm just curious and also learning from you,
I take a bow to you, you really have put everything into this and you may not know, but educating at the same time!!
Thank you xox


Sent from my iPhone using Tapatalk xoxox

Its all good sparklez, i'm happy to explain the ins and outs of it all. better to have it some place on the interwebs then not. plus it helps me as well!

dose Dj know he's had one: i think to a point he knows. as i know when i've passed out he's just unsettled (or of late goes to sleep as fits take alot of engery way from the poor kid)
How does it affect him after: he's very tired. and as i said unsettled. the best way i've had a fit explained to me is its like a windows computer sending you an "error" message, you ignore it then the computer re-starts. or if you like its when watching TV and for no real reason you get that "snow" fuzz stuff on it.
Is there anything else we can do: at this stage he's on the full dose of Keppra for his weight if his "normal" is a fit every 6-8 weeks well...we ride it out as i did yesterday. if the Rivatril fails - then we stilll have Medaz there - but agian the pead isn't 100% sure if we can manage BOTH drugs given at home. so we'll deal with that later on. we do have an option of another drug to be given with the keppra - but it all comes back to the EEG. dependant on which part of the brain is re-booting is dependant on the drug KWIM? if its just one part then we're ok. if its two, or three well...more drugs or a differant one all together. but its a wait and see to a point

last night was bull dust. DJ didn't sleep til after midnight - and me until after 2. but even then it was FAR from a rested sleep. the fear of another fit was there. i guess given his first two (although 6 months ago) where so long and drawn out i fear that again. hopefully it wont though. but again its there.
Hopefully it'll be another 6 weeks before we have to deal with another one - and it WONT be on the waiting room floor/in the car next time. as its scary seeing him fit in the car :-/

WOw, that is definently scary stuff...
Huge :hug:'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.

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,

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)