This is going to be only a short post. We received a phonecall with Shay's results today from GOSH.
Shay has got Pearsons syndrome which is a 100% diagnosis. The disease is caused by a loss/deletion, of large pieces of DNA from tiny structures in the substance of cells, which are called mitochondria.
We will know more early next week, our son needs all the prayers said for him at this time.
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.
Hi guys
ReplyDeleteI've never been on before but had to after speaking to Maria yesterday when she told me abput the results and I'm lost for words. But that lovely little fellow is gorgeous and I can't wait to see him. Stay positive, I'm saying some prayers and mine, Ellen and the rest of the family's thoughts are with you.
Love
Irene (Dancing)
Hi guys
ReplyDeleteI've never used a blog before and feel as if I'm stepping out of the dark ages! I felt I must after hearing your news from Maria yesterday. I'm lost for words. That little fellow of yours is gorgeous and can't wait to see him. Stay positive and our prayers and thoughts are with you. I'll hopefully see you soon.
Love
Ellen, Irene and family.