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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.

Tuesday, 16 March 2010

A very brave boy!


Shay at last had his long awaited ECG yesterday. We haven't had the results back officially from the doctor, but it seems everything is as it should be. As the pictures show, Shay yet again proved what a fantastic boy he is who is always putting up with so much. Lately he has been asking if he is 'all better' which is heartbreaking to hear. As each week passes he is becoming more aware of how he is feeling and knows when he needs the nurse to come and access his port. Shay is back on antibiotics today as his chest is crackly again and he has started coughing. Hopefully we have caught it early enough before anything really takes a hold of him.
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