Sofia is aged 10 from Greenfield in Bedfordshire. She was born July 14th 2013 a healthy baby. At around 8 months we started to notice that Sofia couldn't weight bare and wasn't hitting her milestones. Unfortunately, at around 13 months Sofia started to regress and could no longer feed herself or play with her own toys. She had no purposeful hand use anymore. Sofia started to be distressed for hours on end. Tests begun and at 17 months and Sofia was diagnosed with Rett Syndrome.

What is Rett Syndrome?

Rett Syndrome is a rare neurological disorder. It is present from conception and usually remains undetected until major regression occurs at around 1 year of age. When children may lose acquired skills and become withdrawn. Which results in needing 24hour care for the rest of their lives. Genetic but largely not inherited, Rett Syndrome is usually caused by a fault on a gene called MECP2 which is found on the X chromosome. People with Rett Syndrome have profound and multiple physical and communication disabilities and are totally reliant on others for support throughout their lives.

Back to Sofia.

Rett does not define Sofia. She is a very smart young lady who communicates with her Tobii eye gaze device and is currently homeschooled and loves to be included and surround by her friends. We were recommended CME physio (intense physio which only a few people in the world are trained in). In June 2018 Sofia travelled to Canada to start a 3 week intense course, where from the beginning it was heartbreaking to watch as Sofia was scared and upset, but by the second week Sofia was much more confident and standing with minimal support around her knees - she was like a different child emotionally - she was so brave.

We are hoping to raise enough funds for Just4Children to allow Sofia to have regular CME, occupational therapy, speech and language therapy, hydro and hippo therapy and the equipment and everyday support associated with such therapies to allow her to live her best life.

Sofia is a very determined young lady she has been through so much but continues to make us prouder every day! She won’t let anything stop her!

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