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In September 2018 my 2 year old daughter Abby was diagnosed with Rett syndrome. This syndrome lies within the body from birth but only becomes apparent at around 12 to 18 months. From birth until 1 year Abby reached her milestones like most other children but when she turned 1 year, we started to see little effects of regression. Abby could say a few words, walk, finger feed and interact back and forward but this started to slowly stop. After visits in and out of hospital, multiple assessments and both MRI and EEG scans, the diagnosis came really out of the blue for us. Abby's regression has continued and has now completely taken her speech & the use of her hands, she can no longer feed herself, play with a toy or even point at an object. She takes absent seizures multiple times a day which range from minutes to hours. She struggles to walk due to the seizures and also her balance and therefore wears a bump helmet at home to protect her head if she falls. Abby becomes very frustrated as communicating has turned into a guessing game for us all, she has absolutely no way of telling us what she wants or needs. This diagnosis has also left Abby with a number of other problems - constant hand wringing, breathing problems, constipation, jerky movements, teeth grinding and more. A few months on from the diagnosis and Abby is still the same beautiful, happy little girl she always was and we will continue to try to raise awareness and money for Reverse Rett in the hope that one day there will be a cure available.
So what is Rett syndrome? - estimated to effect 1:10000 live female births, the disorder is rarely seen in males. Most people with Rett syndrome are unable to speak, walk or use their hands. Breathing problems, feeding tubes, seizures, anxiety, gastrointestinal and orthopaedic issues are common. Research has shown that people with Rett do not have brain damage. They know and understand much more than their bodies allow them to show - but they are locked in, trapped by a body that cannot obey signals from their brain.
What causes Rett? - It is most often causes by mutation on a gene called MECP2 on the 'X' chromosome. The gene makes a protein which everyone needs for their brains to function properly but people with Rett syndrome do not have enough of this protein. In 2007, researches at Edinburgh University proved that a cure is possible. The scientist did this by using genetic engineering to replace the missing protein in a mouse model. These experiments showed when the proteins are replaced at the correct levels the symptons of Rett syndrome disappear. Gene therapy is one way that the protein can be replaced and human clinical trials are due to start in 2019.
Imagine the symptoms of Cerebral Palsy, Autism, Parkinsons, Epilepsy and Anxiety disorder all in one little girl... this is Rett.
Jonathan's Running for Abby
Each month in 2019 I will complete a run/marathon for Reverse Rett because this charity helps children like my daughter Abby
We fund cutting edge research to reverse Rett Syndrome for good.
Charity Registration No. 1136809