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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.

Saturday, 15 August 2009

Thanks a million


We would like to say a huge thank you to Simon who has done absoultely fantastic in raising funds for 'Great Ormond Street Hospital' on Shay's behalf. Simon's justgiving page has done brillant in the short amount of time that he has had to raise funds. We are sure that it has been an enjoyable experience as well. Simon alongside Leonie has made a huge impact on Shay's life and it is a fantastic feeling knowing Shay has so many people around him who is constantly looking out for his wellbeing. Thanks Si!
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