My name is Louise and I’m Mummy to Freddie. At eight months old Freddie was rushed into hospital following a seizure. After tests we were sat down and told he had a Mitochondrial Disease. As part of that initial conversation (after hearing the words Mitochondrial Disease for the very first time) the consultant went on to explain there was nothing they could do other than manage symptoms because these diseases were life limiting, degenerative and incurable. 

For those unfamiliar with these diseases, your mitochondria are, essentially, the powerhouse to your body. They give you energy to do anything and everything; from keeping your organs working and fighting infection to operating your senses and physical skills such as walking. When these don’t exist or function as they should life becomes difficult and, depending on the extent of the fault, significantly shorter. 

Fast forward and Freddie is now three years old. We now know he has Leigh Syndrome. On the initial literature we were given regarding this disease it stated average life expectancy was 2-3 years! His symptoms are; epilepsy, dystonia, weak muscle tone causing him to be incredibly behind in terms of physical development as well as causing him reflux and eating/drinking problems leaving him reliant on a gastrostomy for nutrition and hydration. He is unable to talk like his peers (although, he can say a couple of words and make some signs to communicate). He has global development delay. He has a weak respiratory system leaving him reliant on a preventative steriod inhaler to keep his chest stronger. On top of that he is vulnerable to infection because his body struggles to fight once he catches something. So to try and combat this he needs prophylactic antibiotics all year (this is on top of all his other medications).

For such a young boy he’s been through so much but anybody who knows him or has met him knows his smile lights up the room. He has such courage and determination as well as the cheekiest sense of humour. He is extremely happy and takes life in his stride. He has taught us to do the same. Currently there are no cures for Mitochondrial Diseases, so we raise money for The Lily Foundation who connect and support families like ours as well as work tirelessly in the hope that one day there will be a cure, and families like mine won’t have to watch their children struggle through short lives.

Thank you for reading our story and anything you can donate would be gratefully received.