Our beautiful boy Charlie was born at 06.16am on the 6th February 2012 after a textbook pregnancy and birth. He was just perfect!

Charlie’s development started to slow down at about 6 months old. It started to take him longer to finish his feeds and by 10 months old he was struggling to sit up for long periods of time, he also wasn’t attempting to crawl. We weren’t massively concerned, we thought he was just a lazy boy and that it was just taking him a little longer.

Just after Charlie’s 1st Birthday we noticed one afternoon that his eyelids had started to partially close, he looked drunk! We took him to the drop in but they didn’t seem concerned, they asked us to monitor him and sent us away. The next day he woke up and his eyes were back to normal but a few days later we noticed that his eyes were flickering, we took him back to the walk in where they seemed more concerned and we were sent to the RVI. This was where we met Dr Ramesh and Prof Bobby McFarland. They thoroughly examined Charlie and suggested that he had an MRI scan as a lot of the symptoms that he had were neurological. When they explained this to me I immediately thought that he had a brain tumour.

Charlie had an MRI and a Lumbar Puncture, we got the results back that night. Dr Ramesh showed us the MRI image of Charlie’s brain on the computer screen. He pointed out some tiny white flecks and explained that these were what were causing Charlie’s symptoms. At first I felt relief as at least it wasn’t a brain tumour. Dr Ramesh then went on to explain that he thought Charlie had Leigh’s Disease, a form of Mitochondrial Disease. I couldn’t even say Mitochondrial at this point but there isn’t a day goes by now where I don’t hear or think of that word.

Mitochondrial disease, or 'mito', is the term given to a group of medical disorders caused by mutations in mitochondria, the tiny organelles that are present in nearly every cell in our bodies and which generate about 90% of the energy we need to live. Cells cannot function properly without healthy mitochondria, so when they fail the consequences can be serious and wide-ranging.
Mitochondrial diseases affect people in multiple ways, depending on which cells are affected. This can make the condition hard to diagnose, as symptoms often resemble those of other serious illnesses. For example, a person with mitochondrial disease may suffer from seizures, fatigue, vision and hearing loss, cognitive disabilities, respiratory problems or poor growth. Any of the body's organs and systems can be affected including the brain, heart, lungs, gut, liver and skin.

I asked Dr Ramesh what we could expect for Charlie with regards to quality of life and life expectancy. He gave him 4 years to live maximum due to the early onset of his symptoms. Our world fell apart. I looked at Charlie and couldn’t understand how he could be dying.

Over the following 10 months Charlie became more poorly, he had 4 respiratory arrests and was put on a ventilator in intensive care. I had to learn how to tube feed him as he had lost his ability to swallow and had CPR training. He never walked but could get around by commando crawling when he was well. He was hooked up to a SATs machine at night which would alarm if he stopped breathing. Life was pretty stressful but we tried our hardest to cherish every second.

Charlie was admitted to intensive care for the final time on Christmas Day 2013. He had caught a common cold. We were given a room at Crawford house by the Sick Children’s Trust and we saw the new year in together on a screen that the nurses set up for us. A couple of days later Dr Ramesh and the intensive care doctor told us that Charlie wouldn’t be able to recover and that he had completely lost the ability to breath on his own. It was time to say goodbye.

Charlie died in mine and his daddy’s arms on the 6th January 2014, exactly one month short of his 2nd Birthday.

Our world had collapsed, we left hospital with his foot and hand prints, a lock of his hair, his death certificate and a leaflet about child loss and grief. We went home to an empty house with all of his toys and things around us, I had no job to go back to, he had been my world and my life had revolved around him.

A few months after Charlie died we had a meeting with his consultant Prof Bobby McFarland, he suggested that we get in touch with the Lily Foundation.

The Lily Foundation was founded in 2007 by Liz Curtis in memory of her daughter Lily, who died from mitochondrial disease at eight months old.
Finding little in the way of specialist knowledge or support available to help her through her ordeal, Liz set out to provide answers for herself and others in her situation.
What began as an informal network of family and friends quickly grew into a national charity which today supports over 500 families.
Run by a small team of dedicated staff backed by a medical board drawn from the UK's top centres for mitochondrial research, the Lily Foundation forms a vital link between patients, doctors and medical science bodies. 

We have made so many friends through the Lily Foundation, even more so since we attended their first family weekend where we got to meet other families like us who have been affected by Mitochondrial disease.

We cannot thank them enough for their support and for making us feel less alone but they do so much more than that.