Ruby was born healthy but became very anaemic at 6 months and began having 3 weekly blood transfusions as her bone marrow wasn’t working fully.

It took a further 6 months to be diagnosed with Pearson’s syndrome; a mass deletion of mtDNA. Her mitochondria, the batteries that power her cells are missing a large chunk of mtDNA. This leads to deterioration in the function of the body’s organs and devastatingly, many suffers don’t reach their first birthday.

Thanks to blood donors she was able to thrive and by the time she was 3 she stopped needing the transfusions. Pearson’s will affect her liver, kidneys, pancreas. heart, eyes, ears and her brain during her childhood. Sadly these won’t improve like her bone marrow has.

We are so very fortunate as apart from hardly growing and having adrenal insufficiency she is doing remarkably well, beyond our hopes and dreams.

We continue to hope that her disease progression will be slow and kind to her. We are ever grateful that we have met and gotten to know our beautiful little girl who is very loud and funny. She a remarkable gift and can bring you so much euphoria by just being nearby, she is teaching us how to live and what’s really important.