About Me

My photo
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, 6 August 2010

Growing...


Shay at last is in a junior bed and out of his cot. Last night he slept in it for the very first time and insisted on a story before he snuggled down. I thought we would have major issues as he doesn't cope very well with change. The fact that it is a toy story bed and all the paraphernalia that goes with that has helped. He has grown 3 Cm's so far this year, not a major growth spurt but he is growing and the cot was getting to small for him. Shay has gone toy story mad at the moment and we are just waiting until he has fully recovered from his cough to take him to see toy story 3.
Posted by at

No comments:

Post a Comment

Subscribe to: Post Comments (Atom)