Life has been hectic as usual for Shay. The last couple of months Shay has enjoyed full health.
So far he has had 14 transfusions and was having these every six weeks until recently. For some unknown reason he has dropped back down to 4 weekly transfusions. Shay has recently had a full cardiac review and his clinical status remains stable. His heart sounds were normal with a systolic murmur, which is an extra sound in between the 1st and 2nd heart beat. At this stage it is nothing to worry about.
Shay has got his audiology, physiotherapy, speech therapy and eyesight reviews shortly, the month of August is going to be a busy time with appointments happening each week.
Shay still doesn't eat very much and it is a battle each day to get him to eat even the smallest of portions. We are working very closely with the dietitian and he is now on 'PaediaSure plus juce' (without the i)which is 300 calories per 200ml bottle. The price of these are day light robbery at over £4 a bottle on the Internet. Shay needs to drink two of these a day and we are pleased to say we have found something he actually likes.
Shay has just come back from a fun filled holiday in Spain. He was in the water every single day and can now swim with his arm bands on no matter how deep the water is. Shay was out there watching the world cup final along with everyone else and it was a special moment when Spain won. All he keeps saying now is 'Espana, Espana'. He coped remarkably well with the heat even though it hit the 38 mark. In total Shay was in Spain for 9 days which was enough for our little fella and he looked glad to be home (pictures to come soon).
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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