We are alway's nervous and anxious when Shay has to go to GOSH. Shay was on top form this morning laughing and smiling (plus being a little rascal) and generally trying to annoy Chrissy, a typical brother!
At the hospital we discussed the MDS and also the Pearson's syndrome and they really are so closely linked to Shay's blood counts, biopsy and symptons in general. Because of all this they took loads more blood plus a stool sample (he did manage to produce on this occasion)the urine sample was a bit more tricky so we will try catching this tommorow.
To our amazement Shay has gained weight, as you all know Shay does not eat very well. Two weeks ago he dropped from 12k down to 11.8, he was weighed today at 12.8 and has grown a full 2cm.
The doctor was impressed with how Shay is and that he hasn't needed another transfusion and said "he is clinically stable" which really pleased us. This didn't last long. When we got home we had a phonecall from Jemma at GOSH. She had Shay's regular results from today.
All of his counts have dropped and it does look like he will need another transfusion in a couple of weeks. We expected this a couple of weeks ago and was wrong. I found myself for once quite speechless as it was something I thought would be on the up rather than back down.
Neurofills 2 wks ago was 0.4 now is 0.26
Platelets 2wks ago was 115 now is 96
Hemoglobin was 9.4 now is 8.4
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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