Just had diagnosis of Angelman Syndrome. What now?! Help please

(13 Posts)
hanflan Wed 08-Jun-16 18:17:46

Got genetic results today and was told our 16 month old daughter has AS and I have no idea what to do now. Any others here with children with AS? I feel totally lost. What is the future going to be like for her? Is there any hope of her living a relatively normal life?

OP’s posts: |
ApocalypseSlough Wed 08-Jun-16 18:29:00

I'll just sit here with you until someone more knowledgeable comes along. DS was investigated for this syndrome- I've just read the criteria and can see why- although in the end he doesn't.
Did you ask what happens next? Where you given details of support groups?

hanflan Wed 08-Jun-16 18:35:46

Apocalypse - thanks for replying. We are going to see the genetic specialist who will be able to give us more answers. I'm just sat here on the sofa in the meantime not really knowing what all of this means!
It was a paediatrician who gave us the results and he said he had very little experience or knowledge of Angelman Syndrome so all questions would be better directed to the geneticist. So no details of support or anything yet.

OP’s posts: |
ApocalypseSlough Wed 08-Jun-16 18:36:38

Here's a support group.
How are you feeling? I'm sure there will be posters with experience along soon, until then what are your plans for tonight? Do you have a DP coming home tonight to talk the diagnosis through with? What does your DD like doing? Do you have other children?

ApocalypseSlough Wed 08-Jun-16 18:46:42

Im just ploughing through advanced search- there are a few links I'll post but I though you might be heartened by this quote from Colin Ferell I think who has a son with AS
There is no heartbreak about it, it's not a sad story. I'm incredibly blessed to have him in my life. He has enriched my life incredibly and I wouldn't have it any other way.'

ApocalypseSlough Wed 08-Jun-16 18:50:06

From this article- no pictures and not 100% accurate as it says it's a form of CP which I think is wrong.

hanflan Wed 08-Jun-16 20:05:22

DD is asleep and DH has gone to get a takeaway and some wine! Going to write a list of questions for appt tomorrow as I know I'll forget when I'm there.
I love that quote from Colin Farrell. Very true as well. I can see why they would say it's a form of CP as it's essentially small parts of the brain losing function... however it's because of a gene being missing or not functioning, whereas I think CP is more physical damage to the brain or something? I might be wrong.

OP’s posts: |
ApocalypseSlough Wed 08-Jun-16 20:13:53

I thought so too! Anyhoo- have a lovely evening and good idea to write down questions.

hanflan Wed 08-Jun-16 20:15:11

Thank you for your support and help so far smile

OP’s posts: |
ApocalypseSlough Wed 08-Jun-16 20:35:34

You're very welcome. I researched it when DS was suspected of having it and although it was obviously going to be life changing it didn't feel devastating iyswim.
Good luck- I'll keep this bumped in the hope another Mnetter with more relevant experience comes along.

StillinMyPJs Thu 09-Jun-16 11:14:54

I can't say that I know much about Angelmans Syndrome, but I did consider it for ds1 when we were undiagnosed.

Are you on Facebook? A vague acquaintance of mine has a child with Angelmans syndrome and she gets a lot of support from the Facebook groups. Just type it into the search bar at the top.

I'm only on Facebook for the support I get from other families with kids with special needs.

triplespin Sat 11-Jun-16 11:58:22

My son is also being tested for this and I have almost convinced myself that he has it. Very smiley baby, limited head control, feeding issues and small head size.

Doesn't have a fascination with water though - so far...

PetersonPeterson Mon 04-Jul-16 13:31:49

Hello, my son has a very similar thing, and is now 2.5. I went through a horrible time finding out something was wrong, real grief for the child we thought we had. Life does change, but you will be so proud of your daughter, love her so much and you will cope. Good luck!!!

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