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???.
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.
Thursday, 25 June 2009
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.
Sunday, 7 June 2009
Saturday, 6 June 2009
Shay's transfusion no4
Shay was extremely distraught yesterday when they were trying to put his cannula into his vein for his transfusion. Shay did have his magic cream on but as we were waiting quite a while the only explanation we can think of was that the numbness wore of quicker than expected.
I can't put into words how it makes you feel when you see your child going through this amount of pain. As parents we should be there to protect our children from pain and suffering we felt like we failed Shay yesterday. Yesterday has been the worst day by far for Shay and the cuddles we get afterwards from him is just so amazing. This truly is unconditional love from our son and his cuddles are so precious to us and especially to his sister Chrissy who absoutlely adores her little brother.
He was screaming hysterically as his veins have literally collapsed with the amount of needles our poor darling boy has to endure. After a very traumatic 40 min with countless attempts and the nurses,doctors failing (which isn’t their fault) they finally managed to insert the cannula into him. Shay has been left with many bruises in his arms, wrists and feet.
Enough is enough now, with what he has been diagnosed with he shouldn’t have to put up with this kind of distress and pain just to get a needle into him.
The support at our local hospital has surprised us and they also think Shay would benefit from having a central line inserted into him. This would enable Shay’s veins to recover if he had this. This would be done under general anaesthetic and would take away the unnecessary distress Shay is now experiencing.
A Port/hickman does not come without its own problems. Shay is neutropenic meaning he cannot fight infection; having a port/hickman inserted really is a last resort for Shay as the site of the port can easily become infected.
Next week we are going to seriously look into Shay having one of these as I feel the time is coming very close for something to be done.Especially with his recent diagnosis does he really need this additional pain and stress to deal with? we don't think so.
There are also drugs that some take to encourage the red cells to grow and we are going to discuss if this is also an option for our little man.
Today Shay has been enjoying watching his sister Chrissy Irish dancing at a feis; he is back to his normal self after the transfusion and it is absolutely fabulous to have him back laughing and smiling and being a very cheeky monkey.
A friend’s husband at the feis saw Shay and her husband said to her (not realising that she knew Shay) what a lovely happy little boy he is. She told me that he was shocked when she said that’s the little boy who is seriously ill. When you hear things like this it hits you like a ton of bricks what is wrong with him is completely hidden which makes it extremely hard for us to accept that he is poorly.
Results from 4/6/09;
Hb – 7.7
Neutrophils –0.47
WBC –3.25
Platelets - 122
I can't put into words how it makes you feel when you see your child going through this amount of pain. As parents we should be there to protect our children from pain and suffering we felt like we failed Shay yesterday. Yesterday has been the worst day by far for Shay and the cuddles we get afterwards from him is just so amazing. This truly is unconditional love from our son and his cuddles are so precious to us and especially to his sister Chrissy who absoutlely adores her little brother.
He was screaming hysterically as his veins have literally collapsed with the amount of needles our poor darling boy has to endure. After a very traumatic 40 min with countless attempts and the nurses,doctors failing (which isn’t their fault) they finally managed to insert the cannula into him. Shay has been left with many bruises in his arms, wrists and feet.
Enough is enough now, with what he has been diagnosed with he shouldn’t have to put up with this kind of distress and pain just to get a needle into him.
The support at our local hospital has surprised us and they also think Shay would benefit from having a central line inserted into him. This would enable Shay’s veins to recover if he had this. This would be done under general anaesthetic and would take away the unnecessary distress Shay is now experiencing.
A Port/hickman does not come without its own problems. Shay is neutropenic meaning he cannot fight infection; having a port/hickman inserted really is a last resort for Shay as the site of the port can easily become infected.
Next week we are going to seriously look into Shay having one of these as I feel the time is coming very close for something to be done.Especially with his recent diagnosis does he really need this additional pain and stress to deal with? we don't think so.
There are also drugs that some take to encourage the red cells to grow and we are going to discuss if this is also an option for our little man.
Today Shay has been enjoying watching his sister Chrissy Irish dancing at a feis; he is back to his normal self after the transfusion and it is absolutely fabulous to have him back laughing and smiling and being a very cheeky monkey.
A friend’s husband at the feis saw Shay and her husband said to her (not realising that she knew Shay) what a lovely happy little boy he is. She told me that he was shocked when she said that’s the little boy who is seriously ill. When you hear things like this it hits you like a ton of bricks what is wrong with him is completely hidden which makes it extremely hard for us to accept that he is poorly.
Results from 4/6/09;
Hb – 7.7
Neutrophils –0.47
WBC –3.25
Platelets - 122
Tuesday, 2 June 2009
Results
This is going to be only a short post. We received a phonecall with Shay's results today from GOSH.
Shay has got Pearsons syndrome which is a 100% diagnosis. The disease is caused by a loss/deletion, of large pieces of DNA from tiny structures in the substance of cells, which are called mitochondria.
We will know more early next week, our son needs all the prayers said for him at this time.
Shay has got Pearsons syndrome which is a 100% diagnosis. The disease is caused by a loss/deletion, of large pieces of DNA from tiny structures in the substance of cells, which are called mitochondria.
We will know more early next week, our son needs all the prayers said for him at this time.
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