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.

Friday 5 August 2011

The week that went with a bang!

........Wow what a week we have had in the Skillicorn household, project garden is well under way to get things ready for Princess Gracies Birthday Party at the end of the month! So all hours not dedicated to work and sleeping have found us dressed in our scruffs painting fences and garden furniture, trimming hedges, mowing lawns and jet washing anything that doesn't move, which coincidently works wonders on wheelchairs!!! even though  Gracie squeeks now whenever in her chair lol (Wheres the WD40 when you need it).
        A visit from an old friend left us unexpectedly saying goodbye to our lovely west highland terrior Doggy Dexter! Before Gracies diagnoses when we were scrambling around in the dark we had the bright idea that getting a puppy may help Gracie 'come along' (little did we know) that a little friend would help her develope and catch up with her peers......hope is a wonderful thing I guess and so along came our white little bundle of fluff aptley named Doggy Dexter. Well as you have guessed Gracie showed very little attention to Dexter especially when she was younger as the seizures would really take there toll on her and if she wasn't sleeping she very often lived in a daze and so Dexter very quickly became another member of the family who we cared for.  Well life moved on as it tends to do and unfortunatley as these things tend to go gracie and her many appointments and needs took over leaving very little time for Dexter.  Que a lovely visit from a lovely friend who was just happening to want a little dog for her three boys but was apprehensive as she wanted a dog that she knew alittle about......and hey presto a match made in heaven. Doggy Dexter I am now reliably informed lives the high life of three boys constantly wanting his attention and more walks than he has ever dreamed about......... which makes us very happy that our decision was the right one but bittersweet as we miss the little mutt but purely for selfish reasons.
     Gracie has had a visit from the lovely man from the wheelchair assessment unit and has been measured up for a brand spanking new wheelchair that will meet her needs alittle better ie; recline slightly for when she is seizing and just after so she can then sleep!!! Yay! Although he was extremely surprised that she wasn't peg fed due to her size!!! I think he was trying to imply that she had a big butt lol .......but it's the one thing she absolutley adores its her food so i guess he is right hehe, so she is getting the next size up chair also.
     A trip to A&E was in order last night due to Gracies chronic Uturcaria (started in April) coming home from work and finding your daughter head to toe in hives and her face looking like she has gone 10 rounds in a boxing match is not recommended. Ringing the GP as usual brang no joy and so bag was packed with spare nappies, meds etc and off we went.......well after two and a half ours in A&E, one and a half hours on the paediatric ward, explaining ourselves about her urtucaria, her meds, her seizures, her ability to communicate and the big one CDKL5 to two nurses, one A&E registrar, one paediatric F2 and then finally one paediatric registrar we were given a 5ml dose of a stronger antihistamine and sent home!!!!! Should I say anymore really...... it basically came down to nobody having a clue about CDKL5 how to deal with us and not wanting to be responsible in altering any seizure medications because of little understanding! We have to hold tight and see what the consultant says and ironically after 4 months wait we also have our first dermatology appointment next week  to see if they can find out if it is a drug reaction or an allergy. If there is any doubt why I have created this blog then that is a perfect example.........Awareness!!
      Well to end on a good not Gracie is meeting up tomorrow with six other CDKL5 angels at Chester zoo our first English big meet up and we carn't wait to meet our friends old and new. We also wish good luck to our American Branch who are also meeting  for the 3rd annual walkathon to raise much needed funds into a cure......maybe one day we could all meet up as one big family!!! Hope, Love, Cure!

Sunday 31 July 2011

Our first Post........welcome

     I was born on Thursday 26th August 2004 a lovely healthy weight of nine pounds seven ounzes with masses of  jet black curly hair and chubby cherub cheeks. Everybody exclaimed how beautiful I was and everything seemed perfect for awhile until I had my first seizure on Friday 13th in the bath of all places at 7 months old.  From there came 5 years of endless tests, hope and disapointment, until finally the news came on christmas eve (by letter) with the four letters and one number that will be embedded with me and my family forever, CDKL5.

    CDKL5 whats that? Precisely the thoughts that ran  through my mummy and daddys head.  My doctors had no real answers only that it was extremely rare, only 200 cases known worldwide apparently.  But what does this mean for me??.  There perceeded another year of searching, hope and ultimatley dispair until finally a website that would change everything for me and other little angels like me.  www.cdkl5.com the small sentence that changed our world for the better. Set up by other effected families, a place of knowledge, support and Hope. 

    For me living with CDKL5 can be hard . I have daily seizures which can effect me for hours before and after.  I cannot tell my mummy how much I love her and will never run or walk for that matter into my daddys arms.  I live a life of medication, doctors, physio’s and appointments which for me would be so much easier if my condition was more widely known about.  My hopes for the future are not your typical 6 year olds of princess’s and ballerina’s but for awareness and hope into a cure, if not for me for all the other CDKL5 angels that are out there as there are more and more each day.  Together we can make a difference.
Hi welcome to our Blog I am Gracies mum and we live in Cheshire England. We decided to create this blog to raise awareness for the devastating rare neurological disorder which is CDKL5 in the hope to educate and hopefully communicate what life is like for us. Gracie is our beautiful 6 year old soon to be 7 and at the moment our only child. We are in a very good place at the moment having struggled for years alone we now have a diagnoses and a brand new family and support network in the shape of the International Foundation for CDKL5 Research which can be found at http://www.cdkl5.com/ and also on facebook. Things are looking up for us and so we would like to share that with you............