All he wants is take a ride on my bike, taking his sister out, but without me.
The day after his transfusion and slowly getting his colour back.
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.
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.
Saturday, 30 May 2009
Blood results
As the week has gone on Shay has been getting paler and paler. No results are back at gosh this week and the test for the pearson's is only next door at Kings College Hospital but as yet is not ready.
Shay's Hb has dropped quickly this time around and is now 8.6; he is booked in for a transfusion next week as his hb dropping below 9 has affected him greatly this time around. People have said how well he looks to us this past week but we can see alot deeper into what is going on with Shay and have noticed changes in him that others can't. It's difficult for someone seeing him and the easier option is to say he is looking well sometimes it is hard just to know what to say.
It is frustrating and heart wrenching watching our son go into decline, words can't describe how it feels to watch all these changes happening to him. Less and less weeks are happening between each transfusion he has, hopefully next month the Pearson's test will be back as it will be 6 months ago it was sent.
His latest marrow aspirate showed that the disease (which ever it is) has evolved since his first one. The only thing is to wait and see what test results come in for Shay.
Hb - 8.6
Neurophills - 0.75
WBC - 4.3
Platelets - 125
Shay's Hb has dropped quickly this time around and is now 8.6; he is booked in for a transfusion next week as his hb dropping below 9 has affected him greatly this time around. People have said how well he looks to us this past week but we can see alot deeper into what is going on with Shay and have noticed changes in him that others can't. It's difficult for someone seeing him and the easier option is to say he is looking well sometimes it is hard just to know what to say.
It is frustrating and heart wrenching watching our son go into decline, words can't describe how it feels to watch all these changes happening to him. Less and less weeks are happening between each transfusion he has, hopefully next month the Pearson's test will be back as it will be 6 months ago it was sent.
His latest marrow aspirate showed that the disease (which ever it is) has evolved since his first one. The only thing is to wait and see what test results come in for Shay.
Hb - 8.6
Neurophills - 0.75
WBC - 4.3
Platelets - 125
Friday, 22 May 2009
That's my boy
Shay is utterly amazing! Today he pointed to his nappy and said "wee mummy". To my surprise he sat on the potty and suddenly performed. Now I'm not talking little dribbles here but he actually filled the pot half way 'wey hey'.
When Daddy was home Shay was all pleased with himself and again pointed to his nappy to tell Daddy he done a wee. Shay had to pull his Y-fronts off and sat on the potty and he concentrated and tried and squeezed to no avail. Poor thing he looked so disappointed that he couldn't do one for Daddy.
We know how we will be spending the school summer holidays this year; back and forth to the toilet and with desperation looking for a toilet when we are out.
The doctors at GOSH are closely monitoring Shay's development and his toilet training was discussed last time. This is all down to our very independent son we cannot take any credit for preparing him to come out of nappies, well done Shay.
More results for Shay hopefully next week
When Daddy was home Shay was all pleased with himself and again pointed to his nappy to tell Daddy he done a wee. Shay had to pull his Y-fronts off and sat on the potty and he concentrated and tried and squeezed to no avail. Poor thing he looked so disappointed that he couldn't do one for Daddy.
We know how we will be spending the school summer holidays this year; back and forth to the toilet and with desperation looking for a toilet when we are out.
The doctors at GOSH are closely monitoring Shay's development and his toilet training was discussed last time. This is all down to our very independent son we cannot take any credit for preparing him to come out of nappies, well done Shay.
More results for Shay hopefully next week
Tuesday, 19 May 2009
Blood results
Shay has been very lucky and so far he has escaped the dreaded chicken pox virus. He has been very subdued today and not involving himself in activities at his childminders (Sally & Mick). Apart from his love of tidying up which for a two year old he is quite remarkable in that he tidys his toys up after him; that is mainly all that he has involved himself with today.
Shay is back at GOSH next week so maybe they might have some results from Shay's MDS/Pearson's results. It has been a few months since he had the test so we are expecting it to be back any time soon.
Latest blood results showed Shay's Hb is the highest it has ever been, but that is not the only important ones. He is still 'Neutropenic' so we are still protecting him from even the basic of colds. His platelets are still on the low side but yet again we haven't noticed any major bruising on him. Today we thought as well as his childminders that he does look paler and it looks like his hb is on the way down again, we will know for sure next week
Hb - 10.7
Neurophills - 0.49
WBC - 2.91
Platelets - 119
Shay is back at GOSH next week so maybe they might have some results from Shay's MDS/Pearson's results. It has been a few months since he had the test so we are expecting it to be back any time soon.
Latest blood results showed Shay's Hb is the highest it has ever been, but that is not the only important ones. He is still 'Neutropenic' so we are still protecting him from even the basic of colds. His platelets are still on the low side but yet again we haven't noticed any major bruising on him. Today we thought as well as his childminders that he does look paler and it looks like his hb is on the way down again, we will know for sure next week
Hb - 10.7
Neurophills - 0.49
WBC - 2.91
Platelets - 119
Sunday, 10 May 2009
Chicken Pox
Shay has had direct contact with a friends daughter who developed chickenpox. Our friend was so distraught over the possibility of Shay catching pox as she knows the implications that this can have on Shay's health. Even someone coming around the house with a cough or cold can seriously make Shay extremely ill. It is all very easy to forget what is wrong with him as he does look healthy unless he needs a transfusion. We have protected him the last few months from colds,coughs,etc and so far this year he has not been seriously ill which is fantastic for Shay.
After numerous phonecalls to the hospital it was decided for Shay to have anti-viral drugs for 7 days. This is just a safety measure and if he does get lesions he will have an injection to help him through the illness.
Shay has been fantastic since his last transfusion his speech is coming along great now. Each day he is saying at least four new words his favourite word of the week has been 'Sally'. Sally is one of Shay's childminders and he is now following her around constantly calling for 'Salllllly'.
Shay has a blood test on Friday and we will post the results then.
After numerous phonecalls to the hospital it was decided for Shay to have anti-viral drugs for 7 days. This is just a safety measure and if he does get lesions he will have an injection to help him through the illness.
Shay has been fantastic since his last transfusion his speech is coming along great now. Each day he is saying at least four new words his favourite word of the week has been 'Sally'. Sally is one of Shay's childminders and he is now following her around constantly calling for 'Salllllly'.
Shay has a blood test on Friday and we will post the results then.
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