Tuesday, 6 September 2011

Summer is at an end.....

 Well what a hectic summer for the Skillicorn family we havn't posted for a while so I guess I have alot to squeeze into this one. We had our first big British get together of CDKL5 UK were we met up with other families in the UK who are affected by CDKL5. What a lovely day spent at Chester Zoo and it was really amazing, heartwarming, therapuetic, inspiring, sad, emotional to meet such lovely families who struggle everyday like we do.  We were so delighted at how similar our girls all were and yet so different too, although all beautiful. Having us all together really made me realise how little is known about CDKL5, I mean how can all our girls each affected by CDKL5 be so different yet the same! Bizarre and really reinforces the need to spread awareness, to fund vital research and especially in the UK get some kind of NHS proforma/policy going for it to help our little ones now and for those newly diagnosed in the future. (I am alittle weary of meeting blank expressions in our medical professionals on a regular basis :0( ).

   We had a lovely weeks long holiday in Normandie France which was our first venture abroad with Gracie without the safety net of the NHS. I was alittle apprehensive as you might have guessed and getting insurance was a hole new trauma I wasn't expecting lol. At first we tried getting it with a diagnoses of CDKL5 .......big mistake!!! Three seperate companies contacted and several hours later apparently Gracie was uninsurable!! And so a different approach after consulting with other mums (thanks ladies) insuring Gracie under the diagnoses of Rett Syndrome ( CDKL5 is termed as atypical Rett ) finally got us the insurance I needed for piece of mind. And so the car was packed and off we tootled down to Dover for the Channel Tunnel which I might add I was very impressed with. France is truly a beautiful country with breathtaking views and our log cabin, owned by my husbands friend ( thanks clint) was a lovely base for us to explore. Whilst in France Gracie celebrated her 7th Birthday (wow the time has so flown by) and we indulged in a beautiful apple tarte tatin to mark the occasion. We bought her an Ipad 2 with the help of family and friends and she adores all the touch apps, the music and videos and the communication apps that we are patiently going through with her.....hey Rome wasn't built in a day it was a stone at a time! On a sad note I was very aware whilst abroad the lack of other disabled people especially children also noted by a friend who took her CDKL5 angel to France. Gracie recieved some very unwelcome stares and points, of which she was oblivious thankfully, but oversensitive me took the brunt of them!!! I find it truly hard to deal with this at times, Gracie is my beautiful daughter who is pure of heart, loving, and as innocent as innocent can be. I wish all people could accept her and appreciate her for who she is and when they don't it cuts deep unfortunatley. I guess it is up to me and other mums like me to be strong teach our children about the world and I guess teach the world about our children also.
   Once home back in the UK we had alovely birthday BBQ for Gracie and her Daddy and we had alovely day surrounded by our family and friends. But now back to reality Gracie started back at school today her first day in the Juniors with new teachers and teaching assistants, I am so nervous!!!! Although Gracie was as cool as a cucumber even catching 40 winks before the bus arrived. I know she will have a great day because her school Hebden Green is just fantastic and thoroughly recommended. We have so much to look forward to before christmas, our first Retts Weekend which will have a CDKL5 stand for the first time manned by my friend and fellow CDKL5 mum Carol-Anne ( go girl lol), we have been referred to Dr Hayley Archer the UK's only expert genetisist who specialises in CDKL5 whoop whoop, carn't wait lol. And we may have an opportunity to present to Reaseheath Agricultural College in Nantwich, Cheshire who are looking for charities/people to sponsor for the year and if they pick Gracie.......wow that would be so great for the foundation and research into our cure.............( thankyou Martine). I have such lovely friends and family around me thankyou all, together we are strong lol.

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