On Monday Shay was at GOSH to see his Metabolic consultant. Alot of the test results are not back as yet. When Shay had his operation they took quite alot of blood to test the functioning of his major organs. We received fantastic news that at present they are working how they should be. No kidney leakage, no problems with his brain or heart.
Some of his levels they were checking have come back extremely low and they have taken more blood to check this wasn't a bogus result. One of the tests were for his carnitine levels. Carnitine plays a critical role in Shay's energy production. It transports long-chain fatty acids into the mitochondria so they can be oxidized to produce energy. What I understand is his carnitine levels could be why Shay is always clumsy when running, walking and is always quite lethargic. He will often be found hanging around our legs and asking to be picked up.
His consultant has also taken another sample of Shay's stool (he was able to offer this up on command). Shay's stools have been extremely loose the last couple of weeks to the point where his nappy is unable to hold it in. This test will see if his pancreas is working how it should be. It's hard to listen to Shay's doctors talking about his condition without becoming an emotional mess. When they are talking it is always 'that is not happening YET' sometimes I would like to hear hopefully that won't happen. Talking about Shay's Pancreas we were told in pearsons pancreatic involvement seems to be something that seems to always happen. Well!!! we just happen to think our son is the most amazing child with everything to live for. He is one very special boy who has touched the hearts of not just us his family but hundreds of people. We don't think Shay is a text book case so anything can happen. Maybe it is Shay who will be different because one child has to be for the future of the rest of the little darlings living in what can only be described as hell.
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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