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...