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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.

Friday 17 December 2010

Life is very busy...



The last 7 weeks have been hectic to say the least. Shay is now a very proud big brother. His sister 'Cearney Shaylee' (pronounced Car-nee)is now 7 weeks old and is adored by Shay. Our household has become manic! Shay has taken to a new addition really well and has grown-up in many ways.

For the last 4 weeks Shay has been at school only 4 times. Since September he has had more coughs and colds then ever before. He has had one visit to hospital for a medical assessment but so far we have been able to keep him at home. Shay is now at the age where he gets really upset when he cannot go to school and is starting to dislike hospitals.

As Shay has grown his port is now very uncomfortable for him and having bloods is requiring two or even three attempts with the needle. Our son shows so much bravery and knows that if he moves it will hurt him more. You can feel him shaking and tensing up as his port is accessed.

Shay's last transfusion was in September. It has now been 13 weeks since this transfusion and at his last count his hb was 9.4. At last his marrow is starting to make red cells. To most this would be brillant news but to us it's just as his doctor predicted and now we are waiting to see what else changes in our little boy. Any changes with Shay is not good, it is a sign that the pearsons is progressing.
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