Demi’s story


Our beautiful daughter Demi was born 6 days overdue and was a happy and healthy baby weighing 7lb, we could not have been happier as a family. She crawled when she was 6 months old and walked when she was 9 months old. Sadly things began to change when Demi was 18 months old, she began to fall over frequently, she stumbled when she walked and bumped into door frames and walls. This marked the beginning of a 10 year journey of testing and hospital visits’ to ascertain a diagnosis for our little girl.

When we were first referred to Great Ormond Street hospital a few years ago I was not expecting to have such a positive outcome. But Great Ormond Street hospital’s Doctors, specialists and staff have been absolutely amazing in helping and supporting us. And when in 2010 after her referral to GOSH, we got her a diagnosis we were finally able to put a name to her condition, a rare genetic disorder – Brown Vialetto Van Laere Syndrome.

Demi is finally on medication (Riboflavin & Co Q10) which is proving to have a positive effect on her as we have seen some small improvements in such a short period of time.

Demi is now 12 years, She sufferers with sensory hearing loss and wears hearing aids in both ears. She is vision impaired, uses overnight biPap and also lost the use of her upper limbs 4 years ago. She now relies heavily on us as her parents (and younger brother Reece) to do everything for her. Demi does takes it all in her stride and feels no self pity. Everybody who is lucky enough to meet her will know she is very accepting of her life and adapts to everyday situations in her own way. Demi is an amazing drawer, she draws using her mouth, and has created some fantastic art work. She also plays on her Nintendo Ds using her mouth and has created some amazing art work on this too.

To read more about Demi’s story click the link below: