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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.

Tuesday 29 March 2011

Birthday Boy!



Shay was so excited as his birthday approached as he knew he was going to be four and he looks on this age as being a 'big boy'. He knew exactly what he wanted for his birthday; a motorbike, superman outfit and a skateboard! He will probably crash countless times, end up with a load of bruises but this is what it's all about, him having a very special 4th birthday.
It started as a very busy day for Shay. He was in GOSH nearly all day having his eyes tested. He is such a fantastic boy who gets pulled and prodded about until he is so tired that his eyes are closing with exhaustion. We are estatic to say there has been no changes with his eyes in the last six months. The information going into his eyes becomes very muddled but somehow it rearranges itself when it comes out the
other side as far as we are aware this causes him no problems at the moment.
After the hospital Shay wanted to go to Pizza Hut, he throughly enjoyed himself even though a mouse would have eaten more than him. Shay had a very long day and it took him two days to recover from a very busy day.
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