Shay is in a good place at the moment and is feeling happy, contented and most importantly healthy. He has finished his course of inhalers and only needs them occasionally, his chest has cleared and he is no longer coughing.
He will be having another transfusion just before Christmas to ensure he stays well and healthy for the Xmas celebrations.
It's the first year that Shay now knows it's Christmas. He can point out Father Christmas to me and also a Christmas tree. When he sees toys he wants on the television he has started to copy Chrissy and will say 'Me me' especially when it's anything to do with construction and trains.
A little story that really made me laugh and cry at the same time. Chrissy was practising her Irish Dancing in the lounge and doing her walking exercises. Shay was watching her for about 10 minutes then decided to join in. Well I was shocked to say the least, he got up on his toes and started copying her.Shay did try crossing his feet but that was a bit much as he kept falling over. He was smiling at me and I have to say he made such an effort keeping his arms tucked in that he put his sister to shame. Shay has been around the dancing so long now that he can do cuts, points and even outs on command it is the most magical thing to see.
Shay's development is remarkable considering there are children out there with Pearson's syndrome that cannot walk, sit, talk and have to be tube fed. It's a horrific illness that takes even the slightest development away. So seeing Shay move on in his development gives us hope and we pray we can continue to see him develop and enjoy life to the fullest.
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.
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