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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.

Sunday, 18 May 2014

Update


Since January Shay has had a couple hospital visits re his bones / joints/ muscles. He has been unable to put pressure on his foot due to pain in his ankle, x-rays are clear so not sure what is happening.

We are awaiting a few hospital appointments re lumbar punch and other test, So July will be a busy month for him. When I have further re his hospital I will keep you all updated.

Shay has managed to do his First Holy Communion, something which I never thought would see.


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