Orla, daughter to Faye, has been through so much in her first few years of life so far. At the age of 5 Orla has recently been diagnosed with PTSD from all she has endure throughout her life so far. 

Orla's ordeal started at just 3 months of age when she suddenly stopped breathing; this was reoccurring in her first year alone.

Despite spending the vast majority of her first year in hospital and undergoing investigations and tests to eliminate all possible underlying diagnosis' the doctors were left unsure. One thing they did discover was that Orla had no hip socket and need surgery to correct; although this has improved now Orla will still need surgery in the future.

Almost 3 year on Faye received a letter from the genetics team at the Leicester Royal Infirmary and one of the team had noticed some key facial features similar those recognised in children with Kabuki Syndrome - finally some hope of the specialist support needed!

Orla suffers with many of the effects Kabuki is known for;

Congenital heart defects, hip dysplasia, one kidney and a kidney cyst, hypotonia and hyper extensible joints (which means together she has weak bendy muscles - meaning she is unbalanced and prone to falls). Orla also has permanent hearing damage and will be fitted with hearing aids later this year. Orla suffers a sever anxiety disorder 'selective mutism'; although she can talk this is where she is most comfortable and so around friends and family.

Despite doubts about Orla's mobility she is able to walk and is aided by a wheelchair when she needs to be. Orla loves nothing more than 'having a go'; she doesn't shy away from doing what she can and loved getting a scooter late last year :-)

Orla is an absolute star and surprises her mummy daily with what a superstar she is; she is so happy and that's because she has the support of her mummy Faye, big brother Fynton and big sister Scarlett. The support network of this family is amazing. 

Had Orla been diagnosed sooner hers and Fayes specialist support network would have became effective much sooner. Lets help this charity raise more awareness and funds for further research...