Shay was up bright and early this morning ready to go into hospital for his transfusion.He was in dire need of a lay in but his health must come first. He has been complaining of his legs hurting all week and his diet at the moment is extremely poor. Shay has not walked very far this week and is always asking to be picked up or to have his buggy.
Yet again our local hospital has completely ruined his day by not having his blood ready. Someone along the line at the hospital has seriously made a mistake of not ordering irradiated blood!! After a year and a half how can they still be getting things wrong you have to ask yourself. It is there in black and white in his notes exactly what blood he needs.
So now Shay is waiting around until 3pm for his blood to be ready. Maybe this does not seem to be much of a problem; but by the time he is hooked up Shay will be lucky to be home by 8pm. Shay suffers greatly from tiredness and this is why we ask for morning appointments in the first place. Do Doctors actually look at what is wrong with him? We spend most of our time educating people on mitochondrial disease and most go out of their way to make things as easy as possible for Shay. Hopefully things will go more smoothly once Shay is at the hospital, we will just have to wait and see.
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.
Friday, 2 April 2010
Monday, 29 March 2010
HAPPY BIRTHDAY SHAY!!!
What a fab day it has been today! Shay is 3 years old now and he has enjoyed a full weekend with a birthday party on Saturday. This year Shay knew it was his birthday. He was getting very excited knowing it was very near and kept saying 'Me birthday'. Even though it was his birthday today, Shay still had to have his blood taken. It's a shame this fell on such a special day for him. Saying this when he saw not one but three nurses turn up at the door with helium happy birthday balloons for him, his face said it all. They especially went out of their way for Shay and it really made his day.
Normally Shay has a transfusion every 6 weeks. This time he is a week under and will be having a transfusion this week. It is very disappointing as we thought maybe his blood lines were improving but we will just have to wait and see.
Results:
Hb - 8.3
Platelets - 97
Wbc - 3.21
Neutrophills - 0.47
Normally Shay has a transfusion every 6 weeks. This time he is a week under and will be having a transfusion this week. It is very disappointing as we thought maybe his blood lines were improving but we will just have to wait and see.
Results:
Hb - 8.3
Platelets - 97
Wbc - 3.21
Neutrophills - 0.47
Tuesday, 16 March 2010
A very brave boy!
Shay at last had his long awaited ECG yesterday. We haven't had the results back officially from the doctor, but it seems everything is as it should be. As the pictures show, Shay yet again proved what a fantastic boy he is who is always putting up with so much. Lately he has been asking if he is 'all better' which is heartbreaking to hear. As each week passes he is becoming more aware of how he is feeling and knows when he needs the nurse to come and access his port. Shay is back on antibiotics today as his chest is crackly again and he has started coughing. Hopefully we have caught it early enough before anything really takes a hold of him.
Sunday, 28 February 2010
A happy Shay
As predicted Shay is enjoying full health and back to his normal self again. He is a quirky little boy who has his own little ways and habits now. If routine isn't followed in the house he will soon put you right. Even when he uses the potty everyone has to look and cheer, then he has this ritual of saying goodbye to whatever is in the pot! Every night without fail he asks to have Vick's on his chest and back. Everything has to be done in the correct order, otherwise he creates havoc.
Now March is nearly upon us he knows his birthday is very near. Looking at him it is hard to believe he will be 3 at the end of the month. What a magical birthday that will be for him and such a great milestone with his health.
Now March is nearly upon us he knows his birthday is very near. Looking at him it is hard to believe he will be 3 at the end of the month. What a magical birthday that will be for him and such a great milestone with his health.
Friday, 19 February 2010
11th Transfusion
Shay has quickly gone from being healthy to being poorly again. He has an eye infection in both eyes and his cough is back so he is on a course of antibiotics, eye ointment and his inhalers.
He has spent a rough day in hospital today having his transfusion. All he wanted to do was be at home and sleep. His eyes are really hurting him at the moment and they are constantly streaming which is irritating them further. Shay has been fantastic today, especially with the nurses. Hopefully Shay will have a quick recovery and get back to the cheeky, happy boy we know.
Hb - 8
Platelets - 95
Neutrophills - 0.95
WBC - 2.91
He has spent a rough day in hospital today having his transfusion. All he wanted to do was be at home and sleep. His eyes are really hurting him at the moment and they are constantly streaming which is irritating them further. Shay has been fantastic today, especially with the nurses. Hopefully Shay will have a quick recovery and get back to the cheeky, happy boy we know.
Hb - 8
Platelets - 95
Neutrophills - 0.95
WBC - 2.91
Wednesday, 17 February 2010
Can't wait for Spring
Since January Shay has been very well. It has been a hard winter for Shay as the cold and his mitochondrial don’t do too well together. He is feeling more and more tired since winter and we can’t wait for the spring to bring some warmer weather for him. The most significant sign of Shay being poorly now is his inability to walk far when we are outside. If Shay is out and about you will always see him in arms or in his pushchair. He can crawl up the stairs (slightly out of breath) but if he stops midway and turns he falls down. Coming down the stairs Shay still cannot master, this is very dangerous for him as he has had a couple of accidents just from the bottom two steps.
He is now having transfusions every 6 weeks instead of the normal 4. His Metabolic doctor in GOSH did say to us that the mitochondrial does seem to be clearing from Shay’s blood but cannot tell us where or when it will affect other parts of Shay’s body. She is really pleased with how Shay is coming on especially in his development. His behaviour is absolutely outstanding for his age and his health. Very soon Shay will be having another ECG and his pancreas checked for signs of failure.
Shay’s sensitivity with his eyes is back and now he will ask for the curtains to be shut in the house. We only have another couple of weeks until he has another round of tests on his eyes at GOSH.
We are pleased to say Shay is now out of nappies. As you all know Pearson’s affects the child’s development and some parents don’t see their children crawling, walking, talking and in some cases are fed by a G-tube. At the beginning of the half-term holidays I told Shay ‘Mummy forgot to buy nappies’ (I had 140 nappies hidden!). As usual Shay again has amazed us, 5 days later he is toileting himself independently on the potty and this is number 1 & 2’s. At night he still has a nappy which he is not happy with and will try and kick his way free when we are getting him dressed for bed.
Shay is having his normal blood tests tomorrow as he has woken up extremely tired and irritable today. It’s very hard now to know without a test whether he needs blood or it’s just the mitochondrial in his body that is making him pale and tired.
He is now having transfusions every 6 weeks instead of the normal 4. His Metabolic doctor in GOSH did say to us that the mitochondrial does seem to be clearing from Shay’s blood but cannot tell us where or when it will affect other parts of Shay’s body. She is really pleased with how Shay is coming on especially in his development. His behaviour is absolutely outstanding for his age and his health. Very soon Shay will be having another ECG and his pancreas checked for signs of failure.
Shay’s sensitivity with his eyes is back and now he will ask for the curtains to be shut in the house. We only have another couple of weeks until he has another round of tests on his eyes at GOSH.
We are pleased to say Shay is now out of nappies. As you all know Pearson’s affects the child’s development and some parents don’t see their children crawling, walking, talking and in some cases are fed by a G-tube. At the beginning of the half-term holidays I told Shay ‘Mummy forgot to buy nappies’ (I had 140 nappies hidden!). As usual Shay again has amazed us, 5 days later he is toileting himself independently on the potty and this is number 1 & 2’s. At night he still has a nappy which he is not happy with and will try and kick his way free when we are getting him dressed for bed.
Shay is having his normal blood tests tomorrow as he has woken up extremely tired and irritable today. It’s very hard now to know without a test whether he needs blood or it’s just the mitochondrial in his body that is making him pale and tired.
Sunday, 10 January 2010
Transfusion No.10
Yesterday Shay had his 10th red cell transfusion. As usual he took it in his stride, the only thing he doesn't like is having his special cream put on his port. I think he can now link the cream up with having his port accessed, even though he shows no fear with the nurses.
As each week passes us by Shay's development is clearly changing. When telling him the nurse is going to come and see him, it's heartbreaking for us to hear his reply 'all better'. Even when he hurts himself he will say this and he looks at you waiting for an answer when he says all better.
Shay said his first 5 word sentence the other day which is fantastic, his speech is getting clearer and clearer all the time.
For Christmas Shay got given a doctors set. Well....I have lost count of the people he has done port operations on. Shay will lay his patient down on the floor (first he lays cushions out for them, our son is very considerate) and he will pretend to put a port into them. The funniest is that he has to put the Doctors glasses on that makes him look cross eyed.
We are seeing Shay's Metobolic Doctor in a couple of weeks so Shay will get a full health check. We also have a list of questions that we put together so hopefully more answers to our never ending questions.
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