Edie’s PKU journey

Shelley Smith is raising money for NSPKU
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Royal Parks Half Marathon 2024 · 13 October 2024 ·

Exists to help & support people with PKU, their families & carers. It works closely with medical professionals in the UK. It receives no government funding & is dependent on the generosity of its members & the public to fund practical support, raising awareness & research into the condition.

Story

In May last year my beautiful niece Edie entered the world and made it that little bit brighter for all of us living in it.

From day 1 she’s been our warrior princess; first she battled pneumonia only to find out a few days later that she has a rare genetic condition.

Phenylketonuria, or PKU for short, is a rare autosomal recessive inborn error of phenylalanine (Phe) metabolism disorder that approximately 1:15.000 people in the world are born with.

People with PKU cannot break down an amino acid, called Phenylalanine (Phe), which consequently, accumulates in the body, becomes toxic and cause severe brain damages.

Thankfully Edie has the best big brother Lucas and big sister Isla looking out for her as well as the most amazing parents, Marc & Megs.

I couldn’t be more in awe and more proud at how well they have taken to settling Edie into her condition.

PKU is extremely rare and struggles to get the funding it really needs which could make such a big difference to my niece, Edie and many of the other little warriors battling it with her so I’d be so grateful for any support no matter how small!

Donation summary

Total
£4,425.00
+ £442.69 Gift Aid
Online
£4,425.00
Offline
£0.00

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