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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.

Thursday 29 January 2009

Shay and Neutropenia


Shay is classed as 'Neutropenia' this means he has an abnormal low number of a particular type of white blood cells called neutorophils, at the moment Shay's is 0.3. The white blood cells are the cells in the blood that play an important role in Shay's immune system by fighting off infection. Shay gets infections easily and often, most of his infections occur in his lungs, throat and sinuses. Over the past few months he has ended up in hospital because of these infections. In our hallway in sight of everyone is antibacterial hand gel; we are asking everyone who comes into the house to use this and to also take off their shoes just to give Shay that extra protection.

1 comment:

  1. Arrggh! I wish I knew that before I came round last - I would have made sure I'd used the gel! Hope you guys are well. John x

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