Evie is 10. She is a friendly, kind, cheeky (in a funny not rude way), happy girl. She loves to draw and play with her peers and absolutely loves cuddles!
Evie has lots of abnormalities – cosmetic and physical – from birth. Her main problems are moderate to severe hearing loss, Duane syndrome and torticollis. This means she can’t hear very well and it affects her speech so she struggles to communicate with people she doesn’t know. She can’t move her eyes left or right and she can’t turn her head. She also has learning difficulties.
Evie had genetic tests as a baby, one for Turner syndrome which was negative and we are currently waiting for an appointment with genetics to test for Wildervanck syndrome.
Having an undiagnosed genetic condition has had a major impact on our family. I am always wondering if it’s something I did while I was pregnant or if her dad or I have bad genes ourselves and if we passed it on.
The hospital appointments, getting time off work and worrying what is going to happen as she gets older also have a big impact on us. A diagnosis would make things massively easier; it’s challenging being able to get her the correct help.
In the beginning I was devastated. As Evie was my first child I expected her to be perfect. It was stressful but I quickly learned to adapt as a parent of a disabled child and now she’s older we don’t think of her as being disabled.
She’s a beautiful little girl who is perfect but a bit of a mystery.
We’re enjoying watching her grow and see her personality develop, but I feel worried about the future. I’m glad our paediatrician recommended we join SWAN UK as I’ve got a lot of information and advice from other members and by visiting the Facebook group regularly I’ve been able to recognise signs and symptoms that my other child shows and who we are trying to get seen for a diagnosis.
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