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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, 23 August 2011

Shay's mobility...

For the past couple of months Shay has been complaining about pain in his legs. On one occasion we took him to the hospital to check his lactic acid levels. Acidosis in a child with Pearson's can be fatal. Thank God it came back negative, but we are still no where near knowing what is wrong with his legs.
It is totally heartbreaking to see him in so much pain and trying to get on with things as best as he can. Since the start of the summer holidays there has been a dramatic decline in his mobility. He now favours his left leg for weight bearing when climbing the stairs, taking one step at a time and when he is coming down he is hanging onto the rails for security. Shay will start limping and more and more often his right leg gives way. This has happened a few times and he just drops to the floor and cannot move : ( I took Shay shopping the other day and within two minutes of us being in the shop I had to leave, he could hardly walk. I have noticed how Shay is always sitting when he is playing. Everyday he spends hours sitting down, sometimes he just sits and enjoys watching his sisters playing.
Something has happened/is happening to Shay. Something we cannot explain but it is obvious to us his parents that he is deteriorating in front of our very eyes. I can see it in his eyes and cannot explain the feeling to you of how I/we feel when we see our little man looking like that. Life is very unfair to do this to such a sweet lovable boy. All he wants out of life is to be like everyone else and do what other children are doing at 4 years old!!! We can't explain to him whats happening and even if he was old enough what would we say. Shay cannot remember what it is like to feel 'normal'. He was such a happy, energetic little baby who was always climbing and running around. He is still that happy little boy but so much has changed for him. It's the most frustrating feeling in the world when you struggle as parents to help your own child.
I would like to thank Fiona B for being there for Shay and coming to massage Shay's legs for him. Fiona is a physiotherapist and is extremely busy. We gave you no notice whatsoever and you came to him straight away. The massage worked extremely well for Shay and he only woke up with a little niggle of a pain in the morning. This lasted for four days before he started complaining that he was in a lot of pain again. Your a STAR!!!
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