Introducing Evana

Kayley’s daughter, Evana has 15q11.2 microdeletion, which they discovered after getting a genetic test. Kayley is part of the SWAN UK community. This is her story.

My name is Kayley and I have 4 children. Erica is 10, Evana is nearly 9, Ellery is 7 and Elvie is nearly 4. 

Evana is my child that has 15q11.2 microdeletion. 

Our family have been members of SWAN UK since our paediatrician gave us a leaflet when Evana was 18 months old, just as we started her journey. 

Getting a diagnosis

We took Evana to the GP when she wasn’t weight bearing on her legs and we were sent to a paediatrician who ordered lots of different tests. One of the genetic tests came back saying that Evana had 15q11.2 microdeletion with unknown significance. Evana also has a tiny bit of an extra chromosome but it is unknown as to where. 

Evana is still facing the same issues she always has, pain in her legs and mild learning difficulties. Evana also has hypermobility and sensory issues. 

Our family and SWAN UK

Our favourite day out with SWAN UK was to Chester Zoo. Evana and her older sister Erica (Ellery and Elvie were not born) had so much fun. It was nice to meet other people in similar circumstances, although all of our children had different undiagnosed conditions, we all had something in common. 

This Undiagnosed Children’s Day, we will be celebrating all that Evana has achieved, and that we’ll always know where the next Lidl is. She might not have a diagnosis, but our Evana is a special little girl who always has a huge smile! 

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