Thanks for taking the time to visit my JustGiving page.

Our beautiful daughter Sophia was born in September in London (arriving early before our move back to Newcastle!) Sophia was very floppy and was requiring oxygen very early on. After 3 weeks and no clues, she was flown up to Durham and we took her home on a trickle of oxygen. After 10 weeks Sophia went blue and her eyes were moving erratically. She was taken to the RVI and saw the mitochondrial team after an MRI suggested Leigh's disease. All other tests were fine. Life continued and in April we decided to take Sophia on holiday. On the 2nd day she went blue and was put on life support in Spain due to a collapsed lung. She had her second private jet back to the UK and recovered. Sadly a few days after coming home her seizures became uncontrollable. After a few weeks in the RVI and with scans revealing more damage to the brain, we made the painful decision to remove her life support. 

We desperately wanted to donate Sophia's organs and a match was found for her kidneys. We all said her goodbyes and the tube came out. Unbelievably, Sophia decided to stay with us for 4 more days and we moved into a hospice where we shared some amazing family time. 

We are fortunate that this excellent charity have helped fund an exome sequencing programme which we are hoping will tell us which gene affected Sophia. Our family and friends are passionate about raising money to raise awareness and to improve the speed and reliability of diagnosing this awful disease. 

Thank you.