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.

Tuesday 1 January 2019

Last year (2018) was a good year in respect of very little hospital stays, lots of various hospital appointments.
Shay is now in his palliative care suite at home after amazing fund raising efforts by everyone close to shay and also an amazing charity called Joni's Army.

Shay has been invited to various events, for his hospice, and for people / organisations who want shay to help them with their cause. 
Shay was interviewed by the Guardian Newspaper re a new Microsoft (X-Box) adaptive controller. I have attached the article.



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