About Me

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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.

Thursday, 26 May 2011

Hospital visit!

Shay has been in hospital this week, which I will update you all later on. It has been a huge reminder of the daily struggles our son goes through. He is four years old, but has the aches, pains and fatigue of someone much much older. You look at him and feel totally powerless. His eyes tell a completely different story when he looks at you. The sadness I see from him at times is overwhelming it's hard seeing him like this. Tears are spilt countless times when he says 'I love you Mummy' 'I love you Daddy' . If he goes anywhere we don't like saying goodbye it's always see you soon. Both Alan and I have become very deep thinkers locking up that raw emotion just to get through everyday life and the struggles that brings with it. When people ask how he is it's always he's doing good, he's fine it's the only way to protect our emotions and to stop everything from boiling over. He isn't doing great, people see him playing and having fun! We see him falling over, dropping with exhaustion, not eating as he says 'me so tired, it's hard' or 'my bones are hurting', struggling with his mobility on a daily basis. BUT, take all that away and we have been blessed with the most amazing son, who has bought so much joy and laughter into our life's. He is an inspiration to us and to you, he is a fantastic brother who is so caring towards others. My little boy is fighting life daily and we are so proud he picked us as his parents.