Shay was at GOSH today seeing a child physiologist who specialises in children with metabolic diseases. At last someone who understands what we are going through and more importantly what Shay might be feeling. We have waited a very long time for this appointment. She has two other children in her clinic she helps, maybe children is not the right word but TEENAGERS! Both have been diagnosed with Pearson’s/Kearns Sayre syndrome. She spoke more of the boy than the girl but it did come across to me the girl has far more complex health issues than the boy. He is 15 years old, lives an independent life even though he does have sight, hearing problems and growth issues. It has made me deliberate further into the future, which I don’t do and prefer to take each week as it comes.
We discussed Shay in general with the only real problem that needs to be tackled is his eating and growth. She said he is very complex as he is a very social eater and he will be up at a buffet table along with the rest of us loading his plate up, but then he doesn’t eat any of it. Shay gets very territorial over his food if anyone tries to take it away, but still he doesn’t eat. I am at a loss as to how he sees food, how it tastes to him and why he shows this sort of behaviour. Metabolic diseases can make food taste differently to individuals but Shay is too young to be able to tell us.
We have to tread with caution so as not to make an issue out of it and just keep trying to do the best that we can for our little man.
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.
No comments:
Post a Comment