About Me

My photo
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.

Thursday 1 October 2009

A very magical trip!!



Shay absoultely adored the Disney characters, which totally amazed us. We at least thought he would have run screaming from at least some of them. By the end of the first week he was running around with his autograph book and pen for the characters to sign. Shay being Shay absoultely adored Cinders, he was picked out at one character dinner to have a dance with her. Swaying to the music and smiling at Cinders with those beautiful eyes was enough to bring tears to our eyes. What a fantastic time Shay had, even now he looks through his autograph book and we sit and talk about everyone who signed.

No comments:

Post a Comment