Shay woke in such a happy mood this morning, it is hard to believe that anything is actually wrong with him.
The last couple of weeks we have come to realise that our special little man has MDS and that we have to keep things together for everyones sake and what a long road to recovery he has, and it will be long. Life is indeed cruel it gives with one hand and takes with the other with lightning striking again.
We received a letter from GOSH this morning a sort of diagnosis letter and on reading this all I can say was shock set in. Shay's diagnosis is not 100% as they are waiting for other results to come in. In other words he probably has 'MDS' or could have 'Pearson's Syndrome'. The iron stain on the bone marrow came back and it suggested it could be pearson's as Shay has 31% ring sideroblasts.
This has set us back somewhat again and we don't really know what to say. I pray for those results to come back to us as 'MDS' at least with that there is a road to recovery even being a bumpy one but still a bright horizon at the end.
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.
I am praying for you everyday too Shay.
ReplyDeleteSee you Monday morning
JuJu
xxxx