As the week has gone on Shay has been getting paler and paler. No results are back at gosh this week and the test for the pearson's is only next door at Kings College Hospital but as yet is not ready.
Shay's Hb has dropped quickly this time around and is now 8.6; he is booked in for a transfusion next week as his hb dropping below 9 has affected him greatly this time around. People have said how well he looks to us this past week but we can see alot deeper into what is going on with Shay and have noticed changes in him that others can't. It's difficult for someone seeing him and the easier option is to say he is looking well sometimes it is hard just to know what to say.
It is frustrating and heart wrenching watching our son go into decline, words can't describe how it feels to watch all these changes happening to him. Less and less weeks are happening between each transfusion he has, hopefully next month the Pearson's test will be back as it will be 6 months ago it was sent.
His latest marrow aspirate showed that the disease (which ever it is) has evolved since his first one. The only thing is to wait and see what test results come in for Shay.
Hb - 8.6
Neurophills - 0.75
WBC - 4.3
Platelets - 125
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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