Demi (UK)

Up until Oct 2012, Demi was a happy, healthy and active 9 year old who loved swimming, street dance and trampolining.  

She had a sore throat in October 2012 which developed into a life threatening brain infection causing extensive damage to her globus pallidus.  As a result, Demi has severe generalised dystonia, tics, scoliosis and other issues and uses an electric wheelchair. 

She finds it difficult to write but is extremely proficient texting on her phone!  She’s a typical 17 year old, who enjoys listening to music particularly R&B, going to concerts when she can and watching vlogs on YouTube. 

It’s been very hard for Demi to come to terms with her disabilities – she misses the things she used to be able to do.  She was always wondering why this has been happening to her.

Demi’s neurologist put her forward for the 100,000 genome project in the Uk in 2016 and we received her results August 2020.  She has 2 mutations in the ECHS1 gene. Demi has been referred to a metabolic team so we are just starting to learn more about ECHS1 deficiency.