About Me

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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.

Tuesday 8 November 2016

Overnight hospital stay.


On Saturday shay was about to go to bed when I noticed that his right side of his face had dropped and he was talking out of the left side of his mouth. A few questions to see if he was feeling and tingling or pain in his body and we had went to hospital.
Unsure as to what caused this, shay was admitted overnight for tests for a mini stroke. Sunday morning he had a MRI, the tests revealed he did not have a bled on the brain.

Now a waiting to see his professor to see what caused this.
Shay was his normal self, laughing at the bed I was given for the night.
 
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Wednesday 28 September 2016

Long Awaited Update

I am sorry in not updating this blog for some time.

Since the previous update shay has not had any hospital admissions, things have been happening but overall shay has been keeping well. He is always smiling, laughing and having fun, even winding people up when he is feeling poorly.
He has a fantastic sense of humour, this is something which keeps everyone relaxed.

Shay's eyesight and hearing is still declining, and should be getting a hearing aid very shortly, he has been getting a new prescription every 6 months for new glasses as he is struggling to see in daylight hours due to the brightness, he also struggles to see at night.
I can walk into his room and walk right beside him and he will not see or hear me.

Shays leg muscles are getting weaker and uses his new power wheelchair more and more. When shay gets home from school and goes straight up to bed he is normally joined by his beloved German Shepherd, Holly. They have a fantastic connection, holly licks shays painful legs, and shay says this helps him.
Shay is currently in love with Supercars, always screaming in the car when he sees any.


Please feel free to message me on this to ask any questions, I will try my best to update shays blog, but we have been very busy with numerous appointments. If you wish I can PM a email address to keep more updates.
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