Lily was born on 11th February 2009 and appeared a healthy and contented baby, reaching the usual milestones. It wasn't until she started to walk at 17 months that we felt something wasn't quite right, but it took until her 2-year check to get a referral.

At that point she was diagnosed with mitochondrial disease in July 2011. Lily had stopped standing and walking unaided at this point. She was started on a cocktail of vitamins and underwent a muscle biopsy.

In 2012 we were told she had novel mutations in the NDUSF7 gene, Complex 1 Deficiency and it was called Leigh's disease.

After finding the genetic cause of Lily's issues and speaking with a genetic counsellor, we were told there was a 1-in-4 chance of recurrence.

Willow was born after a standard pregnancy. We asked that genetic testing be carried out from the placenta and cord blood to determine if the baby would likely be affected, and after a short four months we were told she also had the same mutations as her sister.

Lily had done very well on a daily dose of riboflavin, so Willow was also started on this which we feel has greatly contributed to her stability. There’s been a decline in her walking over the years but we’re proud of how independent and helpful she is. She struggles more with learning, and we took the decision to leave mainstream schooling and follow the SEND route where she is thriving.