Our youngest daughter Ruby has been diagnosed with Pearsons Syndrome which is under the umbrella of Mitochondrial disease for which the Lily Foundation is all about. Ruby has mass deletions in her mitochondrial DNA, although a genetic issue it was just a random mutation and we were extremely unlucky. There are around 20-30 living children with this syndrome in the world right now, that's how rare and unknown it is. 

She first came to the attention of our lovely local hospital at 6 months old when she was severely anaemic and began her regular O- blood transfusions (THANK YOU blood donors). Her bone marrow is actually ok, but the mitochondria which powers it to work can't meet the demand. Her faulty mitochondria runs through her body and as she grows it will affect her other high energy needing organs like her pancreas, liver, kidneys, heart, muscles, eyes and ears.  I am very optimstic she will be ok for a couple of years except for the infection risk (she also is low on neutrophils, a type of white blood cell which fight infection so sepsis is her biggest risk). Her health will deterorate and we will spend a lot of time in hospital (but not yet!). This is so rare, we are unprepared for what will happen to our girl next.

So how do you raise a child that isn't going to survive? Simply by pretending she might for a long while and having hope. A friend who has cancer told me she's going to be one of the 5% that makes it 5 years and planted a lovely seed in my head that Ruby might just have the best case of Pearsons there has ever been, that her mass deletion might not be in the greater percentage of all those organs listed above. That she might have 10 years of loveliness rather than just 1. We're so lucky, she's walking, smiling and gives good cuddles so rather than focus on what isn't, we need to focus on what is. For we've had 16 months with a beautiful girl and some aren't that lucky. So until she doesn't have the best case of Pearsons, she does. 

Running really helps me water that lovey seed and we live in such a beautiful place, it's the best medicine. I know I've run marathons before, but it really will be a challenge as I've never ran one dragging a terrified, heavy heart around nor by only doing 1 long run. 

The time is now to do something, Ruby is so well, I want to help fund some research into helping her before it's too late. As I've said we are so lucky, some of the Lily families are in much worse boats, they have multiple children with fatal diseases and babies so tragically poorly.  There is so little research into the field of mitochondria and no treatment other than managing symptoms until they become unmanageable. 

So please help me and please please please cherish your health.

The Lily Foundation was founded in Lily's memory, having lost her battle to Mitochondrial Disease at just eight months old. The charity aims to give hope, answers and support to the many other children and families that face the challenges of this disease today.Did you know every twenty minutes a child is born who will develop Mitochondrial Disease by the age of 16! There is no cure for this disease which is for many, debilitating and life limiting.Please stand with us and fight Mitochondrial Disease and fight for hope.