AS Guidelines

[Mum2Philip]

I thought you might like to read the following AS Guidelines, recently brought out by Prof Jill Clayton Smith (geneticist)and Dr Bernard Dan(neurologist) and other professionals.

http://www.dyscerne.org/dysc/digitalAssets/0/263_Angelman_Guidelines.pdf

The only AS photos are on the cover page - they are all of Philip over the years. The last two photos are in the wrong order. He is nearly 18 on second last photo. Now he is almost 21, and he has more defined features, as with any older male adult.

This was written more for the professionals so you may find it difficult to understand in places.
Rosemary

[Magster's Mom]

I think this is such a wonderful document! Rosemary, its wonderful that you participated in this project!

I think the hardest part about having a child with AS is often the way there is no road-map. We have had so many health issues and no one knows if they are related to AS or not. The more that professionals like Dr Clayton-Smith and Dr Dan can research the syndrome and publish materials like this, the more that families and our doctors will have a road map that will take some of the confusion and worry out of our lives. Good work, and thanks for sharing! I've already shared the link with all of Maggie's medical team!

Erin
_________________
Erin Sheldon, mom to Maggie, del+, DOB 8/14/03 and Ella DOB 8/19/06. www.sheldonhickey.com

See Maggie star in her movies on YouTube: http://ca.youtube.com/user/magstsersmum

[Mum2Philip]

Thanks Erin, I didnt really do anything for the project other than read it when it was finished, and give permission for them to use Philip's photographs.
I did mention other things, like a parent would see, (we parents can observe things that the professionals dont see on brief visits) but for an official document they cannot use anecdotal references.

We also felt his early years with tonsillitus and having them removed played a huge part in Philip's general health, sleep patterns etc.

Therefore this is where this forum is extra special to parents, they can learn by others experiences, share problems and special moments...all things parents appreciate. Whereas the professionals really do like to read - facts and figures.....by other professionals, though most doctors will listen to parents, but others can be blunt.

Even 18 years since Philip's diagnosis, there are still professionals out there who have never heard of AS, but the internet has made such a difference to awareness.

I have never read too much about the genetics of AS, as Philip has a deletion, we knew the 1% risk of having another AS, and we werent planning on having more children. In the early years many were only clinically diagnosed as tests were not sophisticated enough to detect micro deletion....and research in later years UBE3A and other variations etc.

Erin loves and explains very well any of these things....I think she said at one stage her particular interest was epilepsy.
Rosemary