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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 21 May 2010
Shay had a very special day on Thursday. At the moment he has a fascination with helicopters. So it was arranged to take him into London to see the police helicopters. Shay was very excited when we told him he was going to see them and kept saying 2, 8, 10 blast off! He was even using his hands to show us how the blades on the helicopter goes round. When he was on the airfield he was so excited to actually see the real helicopters. His eyes lit up when he saw the engines being worked on and even more when he saw all the tools on the workbench to fix the engines. Shay wanted to have his picture taken with the engine and the workbench. He was given a badge for his coat and stickers to remember his very special day. Now he thinks that every helicopter he sees in the sky are the ones at the airfield. It's great to see Shay happy and excited he really does deserve the best.
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