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London, United Kingdom
Welcome to Shay's story and thank you for taking the time to find out how Shay is doing. It is a place to share our hopes, sadness and the happy times that our little man has. Shay in April 2008 was diagnosed with Pearson's Syndrome a Mitochondrial disease with no cure. Pearson syndrome is very rare, less than a hundred cases have been reported worldwide. It characteristically present in early infancy with pallor, failure to thrive, pancytopenia and diarrhoea. Additional manifestations often include progressive external ophthalmoplegia, proximal myopathy with weakness, and neurologic disturbances. Multiple organ involvement is quite variable. Most infants die before age 3, often due to unremitting metabolic acidosis, infection, or liver failure. Those few individuals who can be medically supported through infancy may experience a full recovery of marrow and pancreatic function. These children eventually undergo a transformation from Pearson's syndrome to Kearns-Sayre syndrome with the development of ptosis, incoordination, mental retardation and episodic coma. Life as we use to know it I cannot remember. We have to live in hope that a miracle will happen for our son.

Sunday, 22 April 2012

Happy 5th Birthday Shay!

The day after Shay's starlight wish was his 5th birthday. What a busy week it has been so far for the little guy. He woke up so excited and kept saying 'I'm 5 now'.
The last three years since Shay was diagnosed has been a nightmare and for us the most important thing was ensuring Shay received the right medical support to the age of 5. This was our ultimate goal. So many children with Pearson's Syndrome don't survive to this age, I knew Shay would. A very bold statement to make I know but somewhere deep down I knew my little boy would be celebrating his 5th birthday. Shay had a fabulous birthday and when he came home from school, there was a huge surprise package waiting for him. A huge surprise for us all! It was addressed to rock star Shay and had the Starlight Emblem all over it. We knew nothing of this and knew that Shay's wish bearer Victoria was responsible. Thank you Victoria!
The Rockband bundle for the WII console.
A couple of days later Shay had a big birthday party to celebrate with all his family and friends from school. He wasn't sure who to invite as he is not very good at remembering names. So we invited the whole of reception!
A football themed party!


Even his favourite teacher from nursery helped Shay celebrate.
Food time!

Parents helping out.

All the children were fantastic.

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