Confirmed new angel in our midst

[talcam]

DD2 2.8 has just had a confirmed diagnosis of Angelman syndrome. We have known since dec that it was likely, and I thought in my head I was 100% sure that the diagnosis would come through. It was still a bit of a blow.
Are there any other angels out there?
She does not have the severe deletion but our bloods are away for more testing so should find out type in about 1 week.

Hi Talcam. My ds1 has Angelman Syndrome. (del+) How are you feeling after the dx? My ds is 7 and is an absolute star!! I am a trustee for ASSERT (Angelman syndrome support education & research trust) I also do the helpline so if you want to talk please call me anytime. 0300 999 0102. (free). There are other Angelman mums on here-someone else will be along soon. The mums on here are lovely and all have good advice about all kinds of things related to SN. What is your dd like? Can she talk at all? Walk? Seizures? sleep? etc. My ds1 has no speech or sign but he definitely makes us understand what he wants (usually chocolate!) He sleeps ok now and walks. Please call, it would be nice to talk to you and you can register with ASSERT for the newsletters and conferences etc. We can arrange for you to meet other AS families aswell if you want? Best wishes. x

We are very fortunate that she seems fairly highly functioning, we had no idea that something so serious could be wrong with her, thought she was maybe just a little lazy .
She can walk ok. Still no running or jumping but getting faster.
She has a few words and has picked up a few signs, we have watched a LOT of something special . Understanding is def at a much higher level.
No seizures thank god, and has slept not too bad recently although reading that some only sleep 5 hours I am feeling more refershed anyway .
We were obviously devestated at first, but have really taken heart from the fact that she is an absolute joy to have and that really there are much worse things that can happen. Also I don't know anyone else who is guareented that their child will always be happy, esp. as a teenager, I am sure my friends will be envious. Obviously our family will now become experts at charades. Every cloud indeed .
I have emailed ASSERT for info but I might call too. Thanks

dont bother emailing!! We are getting 1500 spam everyday so the chances are that your email might not get through! If you phone I will arrange to get the registration pack and info sent out to you asap. All I need is your address. You dont have to chat if you dont want to. She sounds like shes doing really well, they really do bring so much happiness to everyone around them, as do most sn kids I suppose. but a sloppy kiss off an angelman child is something else!