Shay had his monthly appointment at GOSH today and we have come away very unsure and confused of everything that is happening at the moment.
There is no match for Shay on the uk registry but they have found a few mis-matches which is far from ideal but they are going to look more closely at them. Their next step is to do a worldwide search for Shay hoping they will find that perfect 10. The bone marrow transplant is the cure for MDS and hoping that this is what Shay will be diagnosed with rather than the Pearson's.
We were talking to the doctor today and a few things have come to light which we did not know about. I can understand them not telling us everything as until results come in why worry. The doctors think that more than likely Shay has 'Pearson Syndrome' even though he doesn't show all of the symptons. We were told that when they looked at his marrow biopsy months ago and they thought then that he had the 'Pearson's'.
We won't know for sure until that test result is back in which could be weeks or even months, the doctors don't even know. We have to hope and pray that it comes back negative because at the moment we're in a place where no parent wants to be or even deserves to be; this is a syndrome that has no cure, no future and is fatal.
Our family unit has to remain strong for Shay, Chrissy all of us. We are full of hope and belief that our little man is going to have a future that he can look forward to. We refuse to give in and have that taken away from him, his sister and us without putting up a fight 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.
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