Some of the best advice I was given early on was a method for delivering news of Molly's diagnosis, it might seem incredibly unconventional and very "this century" but it worked - an email.
An email allowed me to draft, read and read again to decide the words I should use for such an important announcement. I wondered about sharing this so publically but was assured by a friend that it might help someone in the same position as I was.
Please remember, this is in the very early stages of the diagnosis and some thoughts and opinions have changed since then.
"Hello everyone, Firstly I want to apologise for not getting thankyou cards out for those who acknowledged any/all of the big events in our life recently - particularly Mollys birth, our wedding and the girls birthdays.
Secondly, another apology.. This is probably the hardest email I have ever written. It would be better not to have to do this in an email but as you finish reading you will understand that repeating the story is upsetting & draining.
When Molly reached 6mths we started noticing that she was very weak & not meeting her physical milestones - sitting up, rolling etc. We started looking into & have been ever since. After zillions of tests & a few visits to the Royal Children's in Brissy we finally have some answers. Not great, but answers nonetheless.
Molly has a micro deletion in one of her chromosomes – which apparently anyone can have! BUT the area where her deletion contains one gene in particular that we all need. Well, anyone who did biology at school would say - we have 2 of each chromosome right? right! But in this case the body only uses one..
The syndrome isnt curable - you cant stick part of the chromosome back on, but there is a lot of research being done to make either the other chromosome 15 work or to make the gene work. There are some really promising projects being done.
Enough biology.. The name of the syndrome is called Angelman Syndrome & its quite rare. The reason we havent really told many people its name is because we didnt want people to box Molly into a syndrome and think that is how she will be. The spectrum is quite wide and although there are heaps of signs or symptoms molly wont have all of them & doesnt have a lot of them now.
The main impact to her will be she will probably not learn to talk, and she will have trouble learning to walk (it should still be achievable by 3?) There is nothing wrong with her brain, she understands everything, but she has trouble communicating it back (at this stage that is what is happening with communicating messages to muscles – that can be taught & we are doing that).
Weve been in physio & speech pathology with Molly since 6 mths old so we have a good head start. Most kids dont get diagnosed until a lot later with this - hopefully this will work in our favour. She is already going great guns.
Ive been talking to lots of mums & even what you read online about it is quite outdated - or from the States. A lot of the online statistics come from the States. There are kids who can talk so we are hoping for the best, we are already teaching her to sign & use pictures for communication.
A lot to take in hey?? Yes it is. Understandably we are all devastated.
However, it doesnt change who Molly is. She is happy, interactive & loads of fun to be around. I know she will be the centre of attention in groups for a long time to come - she may not speak but she has a lot to say!
Angelmans Syndrome is something Molly has - not who she is.
The upside is... Molly will always be happy, she is in no pain and she will have a normal lifespan. Things could be a lot worse.
I know a lot of you wont know what to say or how to act, I would be the same. Maybe I can help out a bit ?? If you could try & educate yourselves towards the syndrome & educate others around you to be tolerant towards people with disabilities then Mollys life might be easier for her. Please dont be strangers, more than ever we need our closest friends and family.
Also, please try to keep it a little quiet at this stage, its pretty hard to deal with at the moment and we have only just felt strong enough to communicate this to you all. We dont want to be fielding questions from people we have decided not to tell at this stage (however I have missed some people in families who I dont have emails for, please share with them).
Ive attached a pic of Molly - just so you know she doesnt have two heads! and a little on the syndrome. You can google it yourself but beware, you get a lot of info that is the full spectrum & Molly isnt like that.
Ive edited a copy of the handout I have to give you an idea of where she is.
Ive also attached a link to a great video that a mum made of her lovely little girl - get some tissues before watching tho!
Thankyou for bearing with me in what is a very long email, and my apologies again for letting you know our news like this. Its hard to be strong at times but each day gets a bit better & I hope that your support will help us. Ive also attached a lovely poem that another mum with an angel boy has sent me - pretty much sums up how we feel.
Love Meagan (Rohan, Eva & Molly)
Ive put some links below...
Some good looking research - (I spoke to this guy via email & he really thinks this will happen) http://spectrumpublications.com/index.php/April/May-2008/Spectrum-Magazine-Category/a-long-shot-pays-off.html
This one is a lovely movie, there are some pretty crappy movies but the ones of this little girl are worth watching if you watch any more. You need sound (to see them you click on More From: MomOf1Angel ) http://au.youtube.com/watch?v=-smToUcC-pw "
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