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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.

Monday, 28 February 2011

Growing up!


Shay is certainly growing up fast the last couple of months. He is looking older and developing how he should across all areas. He enjoyed a recent trip to Wembley stadium and as you can see by the picture he loved it. I think his favourite part was going on the train! Shay had his last transfusion on the 23rd September 2010 so it has been a while now. It seems his marrow is making red cells as his hb is now a whooping 10.8, nearly in the normal range. His platelets, WBC and neutrophills are still very low but stable. So hopefully in the near future these will recover also. It has always been a huge worry that Shay would go into complete marrow failure. They can transplant but it seems the survial rate for a child with Pearson's is 18mths post transplant. So thank God he is slowly recovering it's been a long old wait for it to happen. Can't believe our little man will be 4 years old next month he has had a hard struggle with life the last couple of years it just goes to show what a strong fella he is.
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