Olivias Story

Olivia was born on the 8th of February 2021 weighing a small 4lb 8oz.

She suffered with feeding problems, weight gain, diarrhoea and eczema from the start. It didn't seem to matter how much Olivia ate, she would still only gain weight very slowly. We started to become obsessed with how much she was eating. We couldn't understand why she would eat double the amount of food as someone the same age, yet only gain weight slowly.

At 8 months she was finally referred to a pediatrician at Southend hospital who took a series of blood tests. This showed Olivia had high liver enzymes and a low neutrophil count which couldn't be explained so she was then referred to a hematologist at Great Ormand Street. After another series of blood tests there, her neutrophil count was still very low. We were told Olivia had neutropenia which means she would struggle fighting infections on her own. They also noticed her pancreas wasn't working properly which would explain why she wasn't taking in the nutrition she needed.

The cause of these symptoms were still unknown, but fortunately for us our hematologist was aware of a rare genetic blood disease called Schwachman Diamond Syndrome which Olivia had many similar symptoms of. She then had a genetic blood test and a bone marrow biopsy and the results came back confirming she had the syndrome.

While Olivia was undergoing all these tests and we was waiting for a diagnoses, it massively impacted our mental health. The constant worry and unanswered questions that we had was really hard.

Since her diagnosis, she has been put on a medication which helps her take in all the nutrients she needs from her food, and we've seen a massive improvement in her weight gain. However her neutrophil count is still low and she will have to continue having her syndrome assessed through more blood tests and biopsies.

We are very lucky our hematologist knew about this syndrome as many children aren't diagnosed until later in their life and this is why we want to raise awareness and funds to help research and develop the understanding of this syndrome.

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