Special Thanks

Mia and her family would like to thank the following


*Claire House For Keeping Mummy Sane
*Dr Briggs & Nurses @ Warrington Childrens Ward
*Nurses on the Neuromedical Ward & HDU Ward @ Alder Hey
*Dr Emma McCann & Team For Finding My Diagnosis
*Sue Lawtons Team For Always Being There For Us
*Foxwood Special School, and all their staff for making Mias time at big school so special
*Alder Hey ICU & Warrington Resus & Theatre Team for saving Mia's life in June 13
*CDKL5 Support Group for always being there for Mummy in the good times & the bad
*The Liverpool Rett mums & daughters for making this journey that little easier
 

Welcome to my website...

This is a website all about me and my condition. I have a rare genetic disorder called CDKL5. This is a variation of Retts Syndrome (MECP2) a neurological disorder affecting over 10,000 girls born every year. CDKL5 is an extremely rare variant of this with only 41 reported cases world wide (June 2008) I am a very special little girl indeed. You can read all about me and my story below.

Latest News...

Long Awaitied Update

Where Have We Been?

Its been along time since I have updated Mias website, its been a hell of a few years.

In May 2014 mia became very poorly with "a common cold" which resulted in her being put on a life support machine. She was very sick and remained on the ventilator for 6 weeks, after numerous unsuccessful attempts to wean her off the vent Mia had to have a breathing tube fitted (A tracheostomey).  This was a life changing decision for Mia and our family but it was for the best. 

From here we then weaned Mia successful off the ventilator and 5 months later we went home.

For the next 2 years we were constantly in the hospital with respiratory issues, but (touch wood) since about April 2016 mias not had a prolonged stay in the hospital.

Mias more home these days than in the hospital which is fantastic news and even started to pop in school a couple of days a week.

Mias had an Airvo machine of a night time for the past 2 years which gives a little pressure when giving her the oxygen she needs overnight but we have struggled with it as it it seemed to make Mia worse.  Finally we have the settings right and mia is sleeping much much better than when we first put her on the Airvo.

Whats Next for Mimi?

Well, unfortunately were currently going through the pre-op checks for a scoliosis operation, this is the biggest surgery Mia will EVER have to go through, its to straighten her spine as she currently has a 60 degree neuroskeletal 'C' curvature of the spine. This needs correcting sooner rather than later as it will have an impact on her internal organs but obviously comes with its risks.  The surgeon believes the operation its self will be problem free as her spine is still very pliable but the problem being that she will be under anaesthetic for up to 13 hours.  The respiratory doctors are concerned that Mia will struggle to come off the ventilator and may end up vent dependant as a result, this means Mia may become reliant on the vent to do her breathing for her.  This is something we have had to get our heads round but feel its an operation she still needs.

We have a sleep study in March 2017 which respiratory have requested as part of the pre-op checks, they need to check mias breathing pattern and how she converts her carbon-dioxide and manages her oxygen and also see if she can afford to loose 20% lung capacity which is apparently what happens post surgery for up to 12 months.

So, I'll keep you posted again soon on the sleep study and how mimis getting on.

Thanks for reading Mias update.

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