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.
Tuesday, 24 April 2012
Absolute Radio!
Shay was very excited when he received a big brown envelope from Absolute radio station today. He was even more excited when he played the enclosed disc and listened to himself introducing a song by The Spin Doctors - Two Princes, his ultimate favourite song! They included two signed photographs personalised to Shay from Ian Wright and Frank Skinner (just to add to his ever growing collection). The people who work at this station are amazing and very thoughtful, they have also invited our little man to their children's Christmas party at the end of the year.
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