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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.
Sunday, 10 January 2010
Transfusion No.10
Yesterday Shay had his 10th red cell transfusion. As usual he took it in his stride, the only thing he doesn't like is having his special cream put on his port. I think he can now link the cream up with having his port accessed, even though he shows no fear with the nurses.
As each week passes us by Shay's development is clearly changing. When telling him the nurse is going to come and see him, it's heartbreaking for us to hear his reply 'all better'. Even when he hurts himself he will say this and he looks at you waiting for an answer when he says all better.
Shay said his first 5 word sentence the other day which is fantastic, his speech is getting clearer and clearer all the time.
For Christmas Shay got given a doctors set. Well....I have lost count of the people he has done port operations on. Shay will lay his patient down on the floor (first he lays cushions out for them, our son is very considerate) and he will pretend to put a port into them. The funniest is that he has to put the Doctors glasses on that makes him look cross eyed.
We are seeing Shay's Metobolic Doctor in a couple of weeks so Shay will get a full health check. We also have a list of questions that we put together so hopefully more answers to our never ending questions.
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