This is just a short message to let you know that Shay is busy with numerous hospital appointments, its that time of year again with the yearly appointment. We are awaiting certain result and will update here when I get them.
Shay has had a MRI scan, we are awaiting the results which will be when we see main Mitochondrial consultant. Shay has seen his GOSH heart specialist which went well, and after a discussion he is going to have a heart monitor on for a day, due to somethings which occurred over the last few months.
We are awaiting his main hearing and eye sight test at GOSH, I have a feeling on what these results may show but we always keep strong.
Regards
Dad
Ps I am aware that we can go a couple of months without writing on the blog, this is down to shay being well and also busy family life. I would like to let you know that I do look at the site regularly.
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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