Happy New Year!

Shay at last was well enough to enjoy Christmas this year. After weeks of colds and coughs he was given respite from all of this and thoroughly enjoyed Christmas day. It is the first year that he knows what Christmas is and that Santa is coming to visit. Shay is manic about toy story and buzz at the moment as the picture shows.
Shay had his bloods taken just before the New Year and with a fantastic 9.4 for his hb he doesn't need a transfusion. It has now been 15 weeks since his last transfusion which he is really pleased with. Next week we will be seeing his lead specialist and lots of questions to ask regarding this change in Shay's health.
Happy New Year everyone!

Life is very busy...

The last 7 weeks have been hectic to say the least. Shay is now a very proud big brother. His sister 'Cearney Shaylee' (pronounced Car-nee)is now 7 weeks old and is adored by Shay. Our household has become manic! Shay has taken to a new addition really well and has grown-up in many ways.

For the last 4 weeks Shay has been at school only 4 times. Since September he has had more coughs and colds then ever before. He has had one visit to hospital for a medical assessment but so far we have been able to keep him at home. Shay is now at the age where he gets really upset when he cannot go to school and is starting to dislike hospitals.

As Shay has grown his port is now very uncomfortable for him and having bloods is requiring two or even three attempts with the needle. Our son shows so much bravery and knows that if he moves it will hurt him more. You can feel him shaking and tensing up as his port is accessed.

Shay's last transfusion was in September. It has now been 13 weeks since this transfusion and at his last count his hb was 9.4. At last his marrow is starting to make red cells. To most this would be brillant news but to us it's just as his doctor predicted and now we are waiting to see what else changes in our little boy. Any changes with Shay is not good, it is a sign that the pearsons is progressing.

Something to celebrate, maybe....

Shay has been having transfusions for nearly two years now and the majority of the time he has needed one every four weeks the last couple of months has been every 6 weeks. Today he is now six weeks post transfusion and his Hb is 9.1. Fabulous news the nurses are saying, for me I feel anxious, panicky, hating change of any sorts when it comes to our little boy. It certainly looks like his red cells are starting to reproduce once again and at least one of his blood lines is on the road to recovery – but at what cost is a question that refuses to go away and one that I cannot answer just yet. I know I critically look at everything when it comes to Shay. I look too far into the future sometimes but to me what help can I be to my son if I only take one day at a time.
Shay is looking very pale, tired and his eyes are red rimmed. Saying all this he still has a gorgeous smile and is turning into a real Dennis the Menace.

Hb - 9.1
Platelets – 66
Neutrophills – 0.61

Someone who seems to know what they are talking about...

Shay was at GOSH today seeing a child physiologist who specialises in children with metabolic diseases. At last someone who understands what we are going through and more importantly what Shay might be feeling. We have waited a very long time for this appointment. She has two other children in her clinic she helps, maybe children is not the right word but TEENAGERS! Both have been diagnosed with Pearson’s/Kearns Sayre syndrome. She spoke more of the boy than the girl but it did come across to me the girl has far more complex health issues than the boy. He is 15 years old, lives an independent life even though he does have sight, hearing problems and growth issues. It has made me deliberate further into the future, which I don’t do and prefer to take each week as it comes.
We discussed Shay in general with the only real problem that needs to be tackled is his eating and growth. She said he is very complex as he is a very social eater and he will be up at a buffet table along with the rest of us loading his plate up, but then he doesn’t eat any of it. Shay gets very territorial over his food if anyone tries to take it away, but still he doesn’t eat. I am at a loss as to how he sees food, how it tastes to him and why he shows this sort of behaviour. Metabolic diseases can make food taste differently to individuals but Shay is too young to be able to tell us.
We have to tread with caution so as not to make an issue out of it and just keep trying to do the best that we can for our little man.

Growing...

Shay at last is in a junior bed and out of his cot. Last night he slept in it for the very first time and insisted on a story before he snuggled down. I thought we would have major issues as he doesn't cope very well with change. The fact that it is a toy story bed and all the paraphernalia that goes with that has helped. He has grown 3 Cm's so far this year, not a major growth spurt but he is growing and the cot was getting to small for him. Shay has gone toy story mad at the moment and we are just waiting until he has fully recovered from his cough to take him to see toy story 3.

Sometimes I speak to soon..

Shay has been poorly for the first time this year. He has been battling a cold and cough this last week but he is coping extremely well with it. Shay is on his ventolin inhaler every two hours plus antibiotics which seem to be working.
Today Shay enjoyed his first swimming lesson, it was hard handing over control and watching others with him in the pool. It has taken a while to find the right swimming pool but we managed to find a luxury heated one with one to one instruction. Shay smiled and swam widths with his arm bands for 30 minutes this morning, they even had him swimming on his back! The swimming instructor has been fantastic and went out of her way to find out all about Shay's health and what would be best for him before Shay started swimming. Shay's mobility is extremely important to us and we have to do all that we can to maintain and improve his strength and stability for the future, what better way than swimming.
Shay had his Audiology appointment today at GOSH and we are really pleased that his hearing is perfect. He will not need to be seen for another year now.

Its been a while.....

Life has been hectic as usual for Shay. The last couple of months Shay has enjoyed full health.
So far he has had 14 transfusions and was having these every six weeks until recently. For some unknown reason he has dropped back down to 4 weekly transfusions. Shay has recently had a full cardiac review and his clinical status remains stable. His heart sounds were normal with a systolic murmur, which is an extra sound in between the 1st and 2nd heart beat. At this stage it is nothing to worry about.
Shay has got his audiology, physiotherapy, speech therapy and eyesight reviews shortly, the month of August is going to be a busy time with appointments happening each week.
Shay still doesn't eat very much and it is a battle each day to get him to eat even the smallest of portions. We are working very closely with the dietitian and he is now on 'PaediaSure plus juce' (without the i)which is 300 calories per 200ml bottle. The price of these are day light robbery at over £4 a bottle on the Internet. Shay needs to drink two of these a day and we are pleased to say we have found something he actually likes.

Shay has just come back from a fun filled holiday in Spain. He was in the water every single day and can now swim with his arm bands on no matter how deep the water is. Shay was out there watching the world cup final along with everyone else and it was a special moment when Spain won. All he keeps saying now is 'Espana, Espana'. He coped remarkably well with the heat even though it hit the 38 mark. In total Shay was in Spain for 9 days which was enough for our little fella and he looked glad to be home (pictures to come soon).

Shay had a very special day on Thursday. At the moment he has a fascination with helicopters. So it was arranged to take him into London to see the police helicopters. Shay was very excited when we told him he was going to see them and kept saying 2, 8, 10 blast off! He was even using his hands to show us how the blades on the helicopter goes round. When he was on the airfield he was so excited to actually see the real helicopters. His eyes lit up when he saw the engines being worked on and even more when he saw all the tools on the workbench to fix the engines. Shay wanted to have his picture taken with the engine and the workbench. He was given a badge for his coat and stickers to remember his very special day. Now he thinks that every helicopter he sees in the sky are the ones at the airfield. It's great to see Shay happy and excited he really does deserve the best.

Here are 2 pictures of shay waiting for nursery school to open on his first week. The pictures I think say all what needs saying. These are days we never thought would arrive.

Home again

Shay at last had his blood transfusion today without any problems. We have put in an official complaint with the hospital about the system and process of ordering the blood. This appears to fall to one person when the results are telephoned through to the ward, the doctor on duty. This one person is responsible for ordering the correct blood and ensuring also that they actually check Shay's file for what exactly is needed. Somewhere along the line the process of ordering is failing and this is having an impact on the standard of care Shay receives. I dread the future when something serious might happen, how will the hospital cope when such little things are going wrong now.

12th Blood Transfusion

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.

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

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.

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.

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

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.

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.