Recharging Ruby’s batteries

Ruby is nearing her second birthday but has been receiving transfusions of O negative blood every three weeks for the last year and a half.

Diagnosed with the rare mitochondrial disorder, Pearson’s syndrome, Ruby’s bone marrow doesn’t produce many red blood cells and leaves her weak. The transfusions “totally reinvigorate her,” says Ruby’s mum, Nikki.

(Picture: “Ruby’s bone marrow doesn’t produce many red blood cells and leaves her weak.”)

“Pearson’s syndrome is ridiculously rare and doesn’t have a great prognosis. Ruby is well at the moment, though, thanks to her blood transfusions, so we are treasuring that.

“There’s no cure for Pearson’s syndrome and little research.

“Mitochondria power our organs to work and Ruby’s batteries are missing a huge part. Currently, it mostly affects her bone marrow as she doesn’t make many red blood cells but it will progress to other key organs as she grows.”

O negative blood is the universal type, meaning it can be given safely to anyone. Although about 8 per cent of the population has O negative blood, it accounts for around 13 per cent of hospital requests for red blood cells.

“We are very lucky she is still alive as a lot of babies don’t make their first birthday,” says Nikki. “We’re ever optimistic that she has the best case of Pearson’s and we will have a while with her.

“She’s absolutely perfect, hitting milestones and walking. So, putting terrified hearts in a box we’re determined to give her a wonderful loving life whilst we can.

“The generous donations of blood are central to this. The transfusions give her strength to play with her sisters and brother for another day and they buy us more time with her.

“In the days before she is due a transfusion she can become weak and tired and I look forward to her transfusion to see her with a bit more life. Her batteries get recharged. All the kind strangers that give blood take a worry away from us. Because of you we don’t have to worry if the blood will be there.

“So, from the bottom of my heart, Thank you. You are amazing. You should all be very proud of yourselves. Cherish your health and always have hope.”

You are so strong and you inspire us all, Ruby.