Shay has been poorly the last couple of weeks. He started off with a slight runny nose and I soon got him down the doctors for antibiotics before anything set in. After 5 days the medicine seemed to be working but then he started coughing again. Shay was put on another lot of antibiotics which seem to be keeping the cough under control. He still has a cough but thank God it hasn't turned into anything nasty. Keeping everything crossed that it doesn't end up in another hospital visit for him.
Shay had his regular 2 week blood test last week and amazingly his hb was 9!!! He was due for his 4 weekly transfusion last Friday but because of his levels that has been cancelled and he is having another blood test on Wednesday. Why we thought it totally odd was because Shay is looking extremely pale, not eating and he has absoultely no energy. He is gagging on his food so is eating very small bits after such a brillant start in October with his weight gain, it is worrying to think he might lose the weight that he has gained. He has dark circles under his eyes even though he is sleeping well. Shay's neutrophill count is low at 0.34 but stable, normally when he is ill it drops as low as 0.03.
We are at GOSH this week so we can be sure he will have a through checkup with them. Last Winter before Shay was diagnosed he was so poorly and it's frightening to think of him being so ill again it was a terrible time for our little boy.
In early January Shay will have more tests on his eyes they are still extremely delicate and he wakes up some mornings in pain and will be constantly rubbing them. It only seems to happen to one eye at a time and never both eyes together. Shay is such a happy soul who we can't imagine being without. He has countless hospital visits that he just takes in his stride as though this happens to every child he knows no different. Pearsons syndrome has already changed his young life and ours beyond anyones imagination life is being very cruel to our little boy. Everyone who knows Shay knows what a special boy he is and he enjoys every minute of everyday to its fullest God bless him.
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.
You know we are thinking of you all, all of the time!
ReplyDeleteLets me know if there is anything we can do - not sure what, but alweays happy to help!!
I have to say that I think Shay is very lucky to have such loving parents who are willing able to fight his corner for him.
Much love
Karen and co
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