Shay woke up bright as a button this morning full of energy and mischief in his eyes. I dropped him off as normal to his childminders (Playful Minds) at 9 nothing unusual in that.
Shay has had a strange turn at childminding group today. His face went beetroot red and it looked like it was embossed, he suddenly went lethargic and spaced out. Quick thinking Sally & Mick phoned me and as they were at group with the rest of the children they quickly managed to get out and on the way home in a matter of minutes. I know they will be reading this and I want to thank them for how quick they acted especially as they had other children with them.
I took Shay straight to A&E Watford and for the first time everyone was wonderful. They worked quickly and gave Shay his own room because of his neutopenia. The orginal doctor who first saw that something was wrong with Shay back in December was on duty and I thanked him for all he has done for our little man.
Shay had his blood taken and his haemoglobin has taken a nose dive from last week his counts are;
Hb - 7.1 (last week 8.4)
Platelets - 114 (back up)
Neutrofills - 0.34 (slightly up from last week)
Our poor little boy is now looking like that blood transfusion is going to happen within the next few days. He will have one more blood test over the next few days.
We did get fantastic news from GOSH yesterday Shay's stool sample has come back and it is clear. This is absoultely the best news we have heard for a while as it was one of the major tests for the 'Pearson's Syndrome'.
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.
Sad to hear little mans had a funny turn, glad to hear it was delt with quickly and effeciently, good on Sally & Mick for their quick thinking.
ReplyDeleteGood News on the stool sample, hope this confirms what we have sais since Pearsons Syndrome' was first mentioned.
Thinking of you all always. xxx