About Me

My photo
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, 29 March 2011

Birthday Boy!



Shay was so excited as his birthday approached as he knew he was going to be four and he looks on this age as being a 'big boy'. He knew exactly what he wanted for his birthday; a motorbike, superman outfit and a skateboard! He will probably crash countless times, end up with a load of bruises but this is what it's all about, him having a very special 4th birthday.
It started as a very busy day for Shay. He was in GOSH nearly all day having his eyes tested. He is such a fantastic boy who gets pulled and prodded about until he is so tired that his eyes are closing with exhaustion. We are estatic to say there has been no changes with his eyes in the last six months. The information going into his eyes becomes very muddled but somehow it rearranges itself when it comes out the
other side as far as we are aware this causes him no problems at the moment.
After the hospital Shay wanted to go to Pizza Hut, he throughly enjoyed himself even though a mouse would have eaten more than him. Shay had a very long day and it took him two days to recover from a very busy day.

Friday, 25 March 2011

A special day out

I really need to be more organised and try at least manage to keep my little mans blog up to date! But life has been a little more than hectic to say the least. Shay had a fantastic 4th birthday and is now the very proud owner of a motorbike just like his Daddy. Of course he is exempt from any speeding or road traffic offences now :0)
A couple of days before his birthday Shay had a brillant day out at Camden town hall with Daddy. On the way he stopped to see his 'best friend' (as Shay calls him) Paddy Hughes. They enjoyed a late celebration in the pub for St Patricks day as you can see by the hats in the picture. After visiting, Shay and Dad both made their way to the town hall so Shay could watch his Daddy receiving a commendation. Shay was allowed to be next to Dad during the ceremony and must say gave Dad a tough time. Shay knows when to be quiet but his whispering is extremely loud! He was so proud to go up with Dad to receive his commendation by the borough commander and John Snow the channel 4 news reader. Shay had a fabulous day out and on the way back insisted on stopping at the pub again to see his 'best friend' Paddy.

Friday, 11 March 2011

Poorly...

Shay has been poorly since Sunday evening. It started with a high temperature and sickness. Monday morning he was put on antibiotics and Ventolin for his cough. Yesterday Shay was at hospital with suspected chicken pox, he only had the spots down the backs of his legs. It seems our little man has chicken pox but we won't be sure until his blood cultures are ready tomorrow. He is on double strengh Zovirax which will protect Shay from alot of the symptoms of the pox. At the moment no-one knows how his body will respond to the virus especially with him having Pearson's. It's getting more difficult to give him his meds as he is now refusing them point blank. So lots of persuasion is needed but even then it is a major battle.
Hopefully it will turn out to be an uneventful week and he gets better soon.