We received a phone call from Shay's nurse at Great Ormond Street tonight. They have booked Shay in for his 2nd marrow biopsy next Tuesday. As you know he hasn't lasted as long with the last transfusion and the only way to see how his marrow is progressing is with another biopsy.
A Bone Marrow Biopsy is to examine Shay's bone marrow and identify any abnormality in his developing blood cells. This will tell us the percentage of abnormal cells in his marrow plus many other things that are happening. Previously Shay had 31% ringed sideroblasts - which isn't good and 4% blasts in his marrow- which is good as leukemia is diagnosed at 20% blasts. Shay's blood cells in the marrow will be examined for their shape, size, number and characteristics.
Shay was in a dangerous situation when he had his 1st biopsy under general anaesthetic, his oxygen levels dropped to 40%. What happened to Shay was extremely rare and normally patients need drugs to bring them back around. Shay being being typical Shay managed to come out of it with no help from drugs whatsoever always showing amazing strengh for the amount of things that he has to go through.
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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