Lily was born on 11th February 2009 appearing 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 2yr check before a referral, and she was diagnosed with Mitochondrial Disease in July 2011 - Lily also 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. We wanted another child, but our genetics counsellor told us we had a 1 in 4 chance of recurrence.
Willow was born on 1st September 2013 and in January 2014 a specialist confirmed she also has the same mutation. Their cells are being compared to confirm this mutation is responsible for Leigh’s.
For the moment Willow is gaining skills just as her sister did.
We are proud parents to two happy, beautiful and determined little girls.