Shay has been having transfusions for nearly two years now and the majority of the time he has needed one every four weeks the last couple of months has been every 6 weeks. Today he is now six weeks post transfusion and his Hb is 9.1. Fabulous news the nurses are saying, for me I feel anxious, panicky, hating change of any sorts when it comes to our little boy. It certainly looks like his red cells are starting to reproduce once again and at least one of his blood lines is on the road to recovery – but at what cost is a question that refuses to go away and one that I cannot answer just yet. I know I critically look at everything when it comes to Shay. I look too far into the future sometimes but to me what help can I be to my son if I only take one day at a time.
Shay is looking very pale, tired and his eyes are red rimmed. Saying all this he still has a gorgeous smile and is turning into a real Dennis the Menace.
Hb - 9.1
Platelets – 66
Neutrophills – 0.61
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.
Hi Sharon, it's been ages since your last post. I hope that means things are good with Shay.
ReplyDeletethinking of you
Laura and Steve