Shay had a fantastic birthday yesterday and this year managed to open his presents all by himself much to Chrissy's annoyance as she normally helps him.
As a very special present to our little darling, yesterday we registered to become donors at Harrow lesiure centre and will be on the registry in 3 weeks. A huge thankyou to everyone who was able to make it yesterday as this shows great support for Shay and others like him. I know some of you were unable to register due to the fact the cut off for donating is 40, but once you are on the list you can donate until you are 60. I know this was frustrating for some as 40 is an extremely young age, Alan has only just made it by a few short months :0)
There is another clinic at the end of the month in Harrow and we will post the details as we get them.
Thankyou all for your continuing support of Shay
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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