About Me
- Shay
- 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, 27 February 2009
At Last!
Finally it has happened, Shay's feet have finally grown :0). He is now a size 5 and we celebrated today by having a trip out to the timberland shop. Shay has been running around in his boots all day and it was hard getting them off him. When Daddy came home from work the first thing Shay did was run and get his new shoooooz for Daddy to see, bless our darling little man.
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Yipee at last, He's got the boots, Have a cold but will be round to see the little man (in Boots) as soon as my sniffles have gone. xx
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