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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.

Friday, 31 December 2010

Happy New Year!


Shay at last was well enough to enjoy Christmas this year. After weeks of colds and coughs he was given respite from all of this and thoroughly enjoyed Christmas day. It is the first year that he knows what Christmas is and that Santa is coming to visit. Shay is manic about toy story and buzz at the moment as the picture shows.
Shay had his bloods taken just before the New Year and with a fantastic 9.4 for his hb he doesn't need a transfusion. It has now been 15 weeks since his last transfusion which he is really pleased with. Next week we will be seeing his lead specialist and lots of questions to ask regarding this change in Shay's health.
Happy New Year everyone!
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