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.
Tuesday, 27 January 2009
All About Me
Shay came into this world at the amazing weight of 9lbs which was a shock to Alan and especially myself. Shay developed a dairy tolerance from 8Mths this was noticed as soon as he stopped breast feeding and quickly settled down to his still favourite soya milk. Shay's health started declining from May 08,at first we didn't think anything of it. Cold's, virus's normal things what any other child seems to get.Shay became a very fussy eater in May 08 and this gradually got worst through to the August where it was very hard just to get him to eat. Over the summer holidays 08 until December 08 Shay's health took a rapid downward spiral. Any slight cold would turn into a lung, chest infection. He was having them back to back. Numerous visits to A&E, with the Doctors just sending us on our way with calpol. Shay has been through a lot the last few months with countless blood tests, bone marrow biopsy and a blood transfusion. On January 20th 2009 our world collasped with our little boy being diagnosed with (99.9% sure) Myelodysplasia (MDS) This is an extremely rare disease in children and normally affecting older people. The outlook for Shay is he will need a bone marrow transplant, he will spend a minimum of 2 months in isolation having this done and once home will be in semi-isolation for quite a few months afterwards. At this moment Alan and I are waiting to hear if we are a match so we can be his donor. Throughout, Shay has been a happy energetic boy, what ever is thrown at him does not get him down, he has a very very long road ahead of him and know he will get alot worst before he gets better. The reason for this blog is to keep all friends and family informed of his health and to thank everyone for their support and concern.
Subscribe to:
Post Comments (Atom)
No comments:
Post a Comment