Tonight Shay has been admitted to our local hospital. At gosh today he was in so much discomfort from the LP and the Port op that he is becoming exhausted. From early this evening he has been cramping up in agony around his liver region. He is unable to stand or do anything that requires him to move. Phoning the hospital I was calmly told that they had no beds and really had to push my point and told them in an equally calm way that really there is no choice and I am bringing him in and to pull his notes so they can do a bit of reading. The doctors and nurses that I know are fab but when you speak to someone that does not know Shay it can get frustrating to the point where I had to start name dropping and was very willing to phone his consultants up personally.
Shay has had an x-ray on his chest and abdominal region. His chest was clear and his abdomin was a bit unclear. So to be cautious they have admitted him tonight to watch over him with Daddy by his side. Shay's pain seems to come in waves and on leaving both of them his stomach was making noises and his bowel was soft. He does have a slightly enlarged liver that they were able to feel eventually but no temperture. It looks like Shay will be having a scan in the morning just to see what really is going on inside him.
We want the best possibly care for our little man and his team of consultants have been absoultely brillant with Shay. Things have happened extremely quickly for Shay and we got a diagnosis quickly compared to others. The hospital visits are taking it's toll and I find it hard to keep the frustration out of me when I am asked the same questions over and over again regarding Shay. Simple silly things, how many times do I have to repeat what faith he is? What's his diagnosis? the whole point in having his special little green card I thought (with diagnosis blazened across the front) is to let others know to get the notes and read what's in them. Thank God that both our children has parents who are on the ball constantly because if we were anyother way who knows what might happen!!!
Shay was in GOSH all day with tests being done on his eyes. The jargon of it all was completely overwhelming and we are now having to get our heads around not only what is involved in hematology but now also the workings of the eye.
With one of Shay's eyes the muscle will move and the eye does not follow immediately, the specialist did mention that he won't at this time need an operation to correct this. They also noticed something unusual which is his left eye doesn't send messages over to the right side of his brain. The tests on his eyes were so far advanced in technology that we are now waiting for a report to fully understand what all this means. They think the pigmentation in the eyes could be that dad is pale and I am olive skinned and this could be our genes mixing to cause this. They now have a baseline of what his eyes are like and we will be going back in 6 months for the same tests to see if there are any changes. Shay was again the model patient today with electrodes attached to his skull and face. Even with the pupil dilating drops that stung him he did not complain, not even once. As most of you know Pearson syndrome attacks the eyes and Shay's risk of this happening to him is still extremely high along with him losing his hearing, todays news has not at the moment bought much relief to us. Until we get the report through and we can understand it more fully will we be able to take everything on board and look at the results alot more closely.
I know I keep saying this but he is such a strong child who just keeps amazing us, we are so proud to have the honour of being the parents of a very special boy.
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.
Wednesday, 15 July 2009
Monday, 13 July 2009
Port Op!
We are now back home (late) and Shay is tucked up safely in bed feeling a little bit sore and tired.
Today has been another emotional rollercoaster, with both of us feeling so many different emotions and in the back of our mind thinking if a port is the right thing for Shay.
Yet again Shay was an absoulte star letting the doctors and nurses do whatever they wanted. Our son is totally amazing with everything and even if he finds a procedure uncomfortable he will just keep still and let them get on with it.
Shay was down in theatre for 1.5 hours today, waiting in the ward the time seemed to drag by.
When we were called down Shay was fast asleep he opened his eyes for a few seconds looking disorientated then fell back to sleep. Even on the long trolley ride back to the ward his eyes kept fluttering open for a few seconds then he would fall back to sleep.
Shay is obviously in pain from the wound in his neck and chest as he wanted us to take the dressing off when we got back home. In his young mind he thinks if the plaster comes off then the pain will go away bless him.
The worst by far has been moving Shay around. Lifting him from underarm is causing him pain as well as the wound from the lumbar puncture on his lower back.
Shay cannot bath for 5 days and we have been warned that he could have a lot of bruising under his chest due to them tunneling under his skin for the port.
Shay has had no problems today apart from trying to catch a urine sample which he seemed to know everyone wanted but he wasn't giving up that easily. Cotton wool balls in a nappy catch this perfectly, that's of course with Shay participating with everyone :). In the end we manage to get a whole 16ml from our stubborn little boy.
Shay is back at GOSH tommorow for his eyes so hopefully we just might have some good news.
Friday, 10 July 2009
Hospital appointments
Shay had his consultation at GOSH for his heart. He was a star when he was being examined and done everything that the doctors wanted him to do. Shay's heart on the scan is perfect and his ecg was normal. Just the news we were hoping for, which for once has made us extremely happy.
I did mention his liver to a nurse and asked what the 2cm edge meant and she said it did mean Shay might have an enlarged liver. We will know more by the end of July on this.
Shay has a big day looming with his port, lumbar etc it's been hard to try to keep everything normal and carry on like everyone else. There are so many things going on at the moment that sometimes the stress of everything just boils over. We have been noticing more and more Shay's eyes are very delicate and he now wears his sunglasses when he is out constantly. When he gets out of bed the light really affects his vision and he is sometimes known to have his glasses on when he is brushing his teeth. Again we will know the full extent of what is wrong with his eyes by the end of the month and hopefully he just has sensitive eyes.
Praying for a smooth day next week for Shay and hoping everthing goes as planned
I did mention his liver to a nurse and asked what the 2cm edge meant and she said it did mean Shay might have an enlarged liver. We will know more by the end of July on this.
Shay has a big day looming with his port, lumbar etc it's been hard to try to keep everything normal and carry on like everyone else. There are so many things going on at the moment that sometimes the stress of everything just boils over. We have been noticing more and more Shay's eyes are very delicate and he now wears his sunglasses when he is out constantly. When he gets out of bed the light really affects his vision and he is sometimes known to have his glasses on when he is brushing his teeth. Again we will know the full extent of what is wrong with his eyes by the end of the month and hopefully he just has sensitive eyes.
Praying for a smooth day next week for Shay and hoping everthing goes as planned
Saturday, 4 July 2009
What a day!
Shay had his 5th transfusion today and what a fiasco it turned out to be. Shay had his cannula fitted on Thursday as they had to take blood for a cross match anyway. Thursday evening a doctor phoned and informed us that not enough blood was collected for a cross match so we had to go back in at 9am Friday morning. The nurses were fab and saw Shay straight away. More blood should have been easy to take from Shay but as they were trying to flush his tube it was blocked. Throughout this Shay only had the cold spray which lasts 30 seconds and he was fantastic he was tensed up but he stayed still for the nurses, he is one remarkable brave little boy.
So cannula fitted again this time on his thumb sucking hand. We left the hospital as his transfusion was at 1.30pm so we thought. A phone call later informed us it was at 2.30pm as the blood was due in at 2.15. Still remaining calm and stress free at this point. We arrived at 2pm, Shay being Shay was a star and took everything in his stride.
At 3pm the nurse informed us that the blood did arrive for Shay but colindale sent the wrong type. Completely incompetent, at least it was noticed before it was too late. This went on for hours because Shay's blood has to be irradiated which is making sure it is bacteria/virus free this takes 1.5 hours to do.
We were moved onto the main ward into the high dependency beds until Shay finished the transfusion. Shay was having 190ml of blood which I asked earlier as it's good to know what is going into our little man. On a new ward with new staff I asked the nurse how much Shay was having again (just making sure they are getting it right)you've guessed it I was told a whooping 290ml. Towards the end of the transfusion the machine carried on feeding the blood to Shay even after his 190ml which I had to call the sister to stop the machine.
To end a very long day and story Shay eventually left the hospital at 10.30pm extremely tired, both of us exhausted and somewhat losing our confidence in hospitals. We realise to stop mistakes happening we have to be on guard constantly and we now know not to place our trust 100% in others but to take on a proactive role in Shay's care.
Results;
Hb - 7.7
Neurophills - 0.47
WBC - 3.25
Platelets - 122
Thursday, 25 June 2009
Update
Shay has just finished a course of antibiotics as he was showing signs of developing a cough and as a precaution we asked for him to have them. It seems to have done him the world of good as his cough didn't really turn into anything and stayed off his chest. I am finding lately every other person I talk to they know someone of someone who has swine flu! It makes you question are they all really swine flu have the doctors actually sent of samples etc to be tested or are they just guessing as most do. Wrapping Shay up from all this and withdrawing from the world to live in totally seclusion sounds fab but that would be totally selfish for our own reasons and I think our little man would have alot to say about that.
Shay is booked in for a transfusion next week as he has suddenly gone pale and it's obvious now without a blood test that his Hb has dropped yet again. He should really be having one this week but because of his operation to insert the port-a-cath into his chest it's better short-term for Shay to have his Hb levels higher when he has a general anesthetic.
We received so many letters from GOSH today, some of them I found hard to read. We now have an 'Emergency Management of Pearson Syndrome' letter which outlines if Shay deteriorates suddenly guidelines on what to look for and do, meds to give etc. If I could make a wish it would be to never get to see the day when Shay will need emergency treatment and the ABC rule comes into play. Reading these letters just makes you want to hold onto him as tightly as possibly and never let anything happen to him. We have become so protective of him that it is totally stressful.
Shay has so many hospital appointments it's now becoming a way of life for our little man. He is seeing so many specialists over the next couple of weeks it is hard juggling life. Early July he is going to have quite a few investigations when they fit his port-a-cath for those nurses out their here they are;
Lumbar puncture for CSF lactate, protein and folate estimations
Paired blood lactate and pyruvate
White cell coenzyme Q10 level
Plasma amino acid profile
Blood spot acylcarnitine profile
Urinary organic acids
It really is to much to go on, but for the non-nurses out there lots of blood and urine for the most but they will be tested for quite alot of different things
In one of the letters we received it said that Shay's abdominal examination was normal other than a 2cm liver edge??????????????? To my knowledge does this indicate a possible inflammation of the liver/liver disease or can it be something harmless???.
Shay is booked in for a transfusion next week as he has suddenly gone pale and it's obvious now without a blood test that his Hb has dropped yet again. He should really be having one this week but because of his operation to insert the port-a-cath into his chest it's better short-term for Shay to have his Hb levels higher when he has a general anesthetic.
We received so many letters from GOSH today, some of them I found hard to read. We now have an 'Emergency Management of Pearson Syndrome' letter which outlines if Shay deteriorates suddenly guidelines on what to look for and do, meds to give etc. If I could make a wish it would be to never get to see the day when Shay will need emergency treatment and the ABC rule comes into play. Reading these letters just makes you want to hold onto him as tightly as possibly and never let anything happen to him. We have become so protective of him that it is totally stressful.
Shay has so many hospital appointments it's now becoming a way of life for our little man. He is seeing so many specialists over the next couple of weeks it is hard juggling life. Early July he is going to have quite a few investigations when they fit his port-a-cath for those nurses out their here they are;
Lumbar puncture for CSF lactate, protein and folate estimations
Paired blood lactate and pyruvate
White cell coenzyme Q10 level
Plasma amino acid profile
Blood spot acylcarnitine profile
Urinary organic acids
It really is to much to go on, but for the non-nurses out there lots of blood and urine for the most but they will be tested for quite alot of different things
In one of the letters we received it said that Shay's abdominal examination was normal other than a 2cm liver edge??????????????? To my knowledge does this indicate a possible inflammation of the liver/liver disease or can it be something harmless???.
Thursday, 11 June 2009
July hospital visit
The last couple of days has shown us the amount of support that as a family we have around us. We have been completely overwhelmed by everyones words and support since Shay's diagnosis.
We are now constantly looking to improve life for Shay and give him the best that we can. Words are still very hard to find at the moment and it is very raw from within to even think about what the future is holding for him. Shay enjoys life like any other child, he is developing fantastically and at the grand old age of two some could learn a thing or two from him about Irish dancing! When the doctor was talking about his needs in the future she said he will need a SEN statement; To us this will be the hardest to see Shay stop developing and this cruel disease to take over.
Shay has now got an appointment at GOSH in the second week of July to have his port, lumbar puncture, bloods and his eyes looked at. Shay will have to have a transfusion before this and a couple of more bloods taken.
Today has been a fantastic day for Shay, he is now getting attached to Chrissy's sunglasses which are pink and he has been wearing them all afternoon. A quick shopping trip tommorow to buy him more manly glasses is in order. He has been running and jumping around the garden after spending all afternoon on the sofa which is normal for him as he needs those few hours off his feet. As soon as Chris comes in from school that's it peace and quiet is completely gone, we love it! Chris and Shay don't argue or bicker ok she might put things out of reach on purpose then watch to see what he does; this doesn't alway's work as he will quite often carry a footstool around with him for those hard to reach places.
We are now constantly looking to improve life for Shay and give him the best that we can. Words are still very hard to find at the moment and it is very raw from within to even think about what the future is holding for him. Shay enjoys life like any other child, he is developing fantastically and at the grand old age of two some could learn a thing or two from him about Irish dancing! When the doctor was talking about his needs in the future she said he will need a SEN statement; To us this will be the hardest to see Shay stop developing and this cruel disease to take over.
Shay has now got an appointment at GOSH in the second week of July to have his port, lumbar puncture, bloods and his eyes looked at. Shay will have to have a transfusion before this and a couple of more bloods taken.
Today has been a fantastic day for Shay, he is now getting attached to Chrissy's sunglasses which are pink and he has been wearing them all afternoon. A quick shopping trip tommorow to buy him more manly glasses is in order. He has been running and jumping around the garden after spending all afternoon on the sofa which is normal for him as he needs those few hours off his feet. As soon as Chris comes in from school that's it peace and quiet is completely gone, we love it! Chris and Shay don't argue or bicker ok she might put things out of reach on purpose then watch to see what he does; this doesn't alway's work as he will quite often carry a footstool around with him for those hard to reach places.
Tuesday, 9 June 2009
Shay
Words really can't describe how we are feeling after today. Utterley devastated is a very mild word for it; our world is slowly collasping around us and it seems we just have to wait and see what happens to our darling little boy.
This pearson's is completely destroying any faith we have in life and what a totally cruel world we live in.Shay is such a strong resiliant child who is having to go through so much it is heartbreaking.
Today we saw his mitochondrial Doctor and she answered our questions with total honesty. Shay's future is unknown, how long he can survive this disease is unknown, what will happen next is also unknown. We do know that it is incurable and he will get the best supportive care there is.
Shay has a large scale deletion at 5kb which at the moment is just in his blood this is causing Shay to have transfusions. Some point in the future maybe a year his doctor said his bone marrow will mend itself. The cruel part is that the mitochrondial will build up somewhere in his organs, this is when changes will start happening with Shay.
Examining his eyes the Doctor saw pigmentation behind one of his eyes, this isn't good for our little man. Shay is at very high risk of losing his sight and his hearing. If he loses his hearing this can be fixed with implants.
In a couple of weeks Shay is having a port inserted into his chest under a general this will completely stop the distress of transfusions and needles he has had to endure. While under the general they will look at his eyes more closely, do a lumbar puncture and take quite a bit of blood so they can test the functioning of some of his major organs. Before Shay can have a general anesthetic he has to have an ECG to make sure his heart is ok. The doctors are going to be keeping a close eye on his heart and we did discuss any problems in future could be dealt with a pace maker.
Shay has these most beautiful green eyes the thought of him losing his vision has completely destroyed us today. We are in a place where not even words can describe the feelings we are going through.
The longterm outlook for Shay is bleak. We have to be strong for both of our children they both need us as much as they need each other. Chrissy knows her brother is unwell and there is no better sister than Chris for Shay to have. Tonight watching Shay and Chris playing brings tears to my eyes it is hard not to think about what the future holds for him and for her, you can't help having these thoughts. Being without our son, is something we will never ever be prepared for it is something we will fight to the end and no matter what happens no matter how tough life gets we will alway's be there and love both of our children.
To finish this post with at least one positive note that we got today we can take both our children on holiday a mitochrondrial expert will be found for us in whatever country we go to. Shay is going to have that experience of being on a plane we want him to have the best of everything that we can give and most importantly have the best time ever with his sister.
This pearson's is completely destroying any faith we have in life and what a totally cruel world we live in.Shay is such a strong resiliant child who is having to go through so much it is heartbreaking.
Today we saw his mitochondrial Doctor and she answered our questions with total honesty. Shay's future is unknown, how long he can survive this disease is unknown, what will happen next is also unknown. We do know that it is incurable and he will get the best supportive care there is.
Shay has a large scale deletion at 5kb which at the moment is just in his blood this is causing Shay to have transfusions. Some point in the future maybe a year his doctor said his bone marrow will mend itself. The cruel part is that the mitochrondial will build up somewhere in his organs, this is when changes will start happening with Shay.
Examining his eyes the Doctor saw pigmentation behind one of his eyes, this isn't good for our little man. Shay is at very high risk of losing his sight and his hearing. If he loses his hearing this can be fixed with implants.
In a couple of weeks Shay is having a port inserted into his chest under a general this will completely stop the distress of transfusions and needles he has had to endure. While under the general they will look at his eyes more closely, do a lumbar puncture and take quite a bit of blood so they can test the functioning of some of his major organs. Before Shay can have a general anesthetic he has to have an ECG to make sure his heart is ok. The doctors are going to be keeping a close eye on his heart and we did discuss any problems in future could be dealt with a pace maker.
Shay has these most beautiful green eyes the thought of him losing his vision has completely destroyed us today. We are in a place where not even words can describe the feelings we are going through.
The longterm outlook for Shay is bleak. We have to be strong for both of our children they both need us as much as they need each other. Chrissy knows her brother is unwell and there is no better sister than Chris for Shay to have. Tonight watching Shay and Chris playing brings tears to my eyes it is hard not to think about what the future holds for him and for her, you can't help having these thoughts. Being without our son, is something we will never ever be prepared for it is something we will fight to the end and no matter what happens no matter how tough life gets we will alway's be there and love both of our children.
To finish this post with at least one positive note that we got today we can take both our children on holiday a mitochrondrial expert will be found for us in whatever country we go to. Shay is going to have that experience of being on a plane we want him to have the best of everything that we can give and most importantly have the best time ever with his sister.
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