On the 7th june 2007 after a perfectly normal pregnancy we became parents to the most precious pink bundle that we named Lucie Annie Flynn. Lucie was a sweetheart of a baby and developed perfectly normally until she reached around 16 months of age. At that point we started to notice Lucie was "forgetting" things she had previously been able to do, her language became limited, she still wasn't walking, and her behaviour became quite erratic. we went to our GP and and much to our horror were dismissed as "over anxious parents who clearly did far too much for their lazy daughter!!" we knew our parenting skills were not in question and pursued the health authority to investigate Lucie further, and eventually, 2yrs later, and after thorough testing, our worst fears were realised.. the shattering diagnosis of Rett Syndrome was given on the 16th November '10.
As you can imagine we were devastated and felt our world crashing around us, but slowly we are learning about Rett Syndrome and understanding the disorder and what it means for Lucie.
Lucie is 5, she now has no speech, has limited of her hands due to constant hand wringing, has days where she is completely anxious and distraught and just can't be settled, and has times where only sleeps a few hours a night. Lucie has also recently been confirmed as having epilepsy, but after a scary bout of seizures we now have it under control with medication. she also suffers from chronic acid reflux, and although medication is helping this, after suffering constant chest infections and pneumonia we are now looking into aspiration, which could mean Lucies ability to eat "normally" will be affected...and she's one of the lucky ones!  Amazingly through her own determination, at aged 2 and a half our little miracle learned to walk!!!! The best day of our lives- as only a small percentage of girls with rett ever manage this.. but sadly this skill is deteriorating and may eventually be lost as part of the disorder. other problems associated with RS, that Lucie may face in the future include: breathing problems, scoliosis (curvature of the spine) and tube feeding. A second regression usually takes place around the onset of the teenage years, and thats when a lot of the remaining skills are lost..however we remain optomistic and will do everythig in our power to prevent these for as long as possible.
Anyhoo..as bleak as this all sounds Lucie is an amazing, loving wee girl, who thrives on company and interaction. She has a smile and eyes that melt hearts, and a face that the oozes cheek! she captures the heart of everyone she meets..and fills us with pride and pleasure every single day. She just adores her little sister and close family, and shows this often, by poking their eyes or pulling their hair!! (it means she loves you..honest!) she lives for her music and loves boy bands and Rap!! She has recently started horse riding and although primarily it is physio to strengthen her core muscles, it looks like it could be a fantastic hobby, as she loves it!!
that..in a nutshell..is our Lucie! and we wouldn't have her any other way :)
Thankyou so much for taking the time to read this, and for even considering donating. I don't claim to know much about the scientific research that is taking place, but what i do know is that Rett syndrome research trust has made amazing breakthrough in recent years as far as finding a treatment to reverse some of the symptoms of rett, It has indeed been reversed in mice..and a cure for our girls could be just around the corner!! amazingly though RSRT receives no government funding and is only funded by generous people like yourselves..every penny you donate goes straight to reseach..imagine our girls lives without all of the heartache above...you really can make a difference.....