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.

Sunday, 5 June 2011

Hospital



Following on from my last entry - Shay was hospitalised for 5 days due to an excruciating pain high up on his right side. He had no coughs, colds or infections that we could see at this time. He has been complaining of being in pain for about 2 weeks prior to him going to hospital. Shay suffers from alot of stomach aches especially when he eats so naturally we put it down to this. It's very hard for such a young child to locate exactly where the pain is. That Monday evening while Shay was asleep, he woke up crying and just by listening to his cry you could tell that something wasn't right. So bags packed in a hurry and a quick dash to our local hospital. On arriving Shay's port was accessed, blood cultures taken and IV antibiotics started. When this happens we know he is going to be in for at least 5 days. His blood cultures came back negative meaning that any infection hasn't gone into his blood stream. Shay's CRP came back that he had an acute infection and inflammation somewhere in his body. Shay's tonsils where very large BUT causing him no ill side affects. That very night Shay had an xray which showed nothing unusual. As it was so late they decided to scan Shay the next morning. Morning, afternoon and early evening arrived and still Shay is waiting to be scanned. Shay is still being given IV antibiotics with no sign of the long awaited scan. Funnily enough his pain has completely disappeared. We mention to the doctors about a pancreas test, on Wednesday morning bloods are taken to test his pancreas function. (which came back clear). Late afternoon Shay at lasts goes for the long awaited scan which unremarkable shows nothing wrong. You can see a complete difference in the pictures...Shay is standing up for his xray the first night in hospital. He was looking very pale and tired. By the time he had his scan he had rosy cheeks and full of smiles.
Shay was administrated antibiotics on admission to hospital by IV. This is the quickest way to deal with infections and on previous admissions has worked very quickly with Shay. To me it seems obvious that any infection he had was cleared up very quickly by the antibiotics. I feel the scan, and pancreas function test was taken far to late for it to show anything. I believe Shay might of had an attack of 'Pancreatitis', talking to other parents with children with Pearson's this seems the most probable explanation for his pain. On leaving hospital he still had enlarged tonsils but this is believed to be only a secondary infection (without symptoms) and not the primary cause. So we have left the hospital with no knowledge or understanding of what was wrong with him. All we know is something has happened.....along with the pain, his speech became slurred and his eyelids droopy. It has taken well over a week for his speech to recover to how it was before and still he is not as clear as he was before.
Shay has a very special day coming up, which I will update everyone in a couple of weeks. He is going to be soooo excited and such alot of people have put so much of their time and energy into this for our little man. All we will say at this time is uniforms, dogs, cars, chases and a skidpan! Mix all that with Shay and he is going to have a day to remember.

Thursday, 26 May 2011

Hospital visit!

Shay has been in hospital this week, which I will update you all later on. It has been a huge reminder of the daily struggles our son goes through. He is four years old, but has the aches, pains and fatigue of someone much much older. You look at him and feel totally powerless. His eyes tell a completely different story when he looks at you. The sadness I see from him at times is overwhelming it's hard seeing him like this. Tears are spilt countless times when he says 'I love you Mummy' 'I love you Daddy' . If he goes anywhere we don't like saying goodbye it's always see you soon. Both Alan and I have become very deep thinkers locking up that raw emotion just to get through everyday life and the struggles that brings with it. When people ask how he is it's always he's doing good, he's fine it's the only way to protect our emotions and to stop everything from boiling over. He isn't doing great, people see him playing and having fun! We see him falling over, dropping with exhaustion, not eating as he says 'me so tired, it's hard' or 'my bones are hurting', struggling with his mobility on a daily basis. BUT, take all that away and we have been blessed with the most amazing son, who has bought so much joy and laughter into our life's. He is an inspiration to us and to you, he is a fantastic brother who is so caring towards others. My little boy is fighting life daily and we are so proud he picked us as his parents.

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.

Monday, 28 February 2011

Growing up!


Shay is certainly growing up fast the last couple of months. He is looking older and developing how he should across all areas. He enjoyed a recent trip to Wembley stadium and as you can see by the picture he loved it. I think his favourite part was going on the train! Shay had his last transfusion on the 23rd September 2010 so it has been a while now. It seems his marrow is making red cells as his hb is now a whooping 10.8, nearly in the normal range. His platelets, WBC and neutrophills are still very low but stable. So hopefully in the near future these will recover also. It has always been a huge worry that Shay would go into complete marrow failure. They can transplant but it seems the survial rate for a child with Pearson's is 18mths post transplant. So thank God he is slowly recovering it's been a long old wait for it to happen. Can't believe our little man will be 4 years old next month he has had a hard struggle with life the last couple of years it just goes to show what a strong fella he is.

Monday, 17 January 2011

We'll miss you Katie!


Shay's favourite nurse is leaving GOSH at the end of the month to follow a career in nursing. Katie has been with Shay since day one and it was really sad to hear that she is going to uni. Shay will miss her lots when he is up at the hospital as he always looks forward to seeing her. We wish her all the best over the following 3 years and hopefully will catch the odd glimpse in the corridors when she is a student nurse.