Shay is becoming more aware of what is happening when he is having blood tests. It's very hard now to watch and to hold him when this is being done. As he gets older he is starting to become scared and panicky when the needle is coming towards his port. This does not hurt him as he has emla cream on the site but you can see in his face now he is scared.
His last transfusion was 4 weeks ago and his results are fantastic considering this. His HB 10.3, his neutrophills 1.19 the highest its been and his platelets 89. Our first thought was his marrow is starting to produce more healthy cells fantastic, this was quickly followed by panic. We cannot help but look more into the future it's no good burying our heads in the sand and ignoring facts. Shay's metabolic consultant did say that Shay's bone marrow would return to normal within 1 to 1 1/2 years but the defective DNA will accumulate elsewhere in Shay's organs causing more damage that unlike the bone marrow does not repair itself. All we can do now is to carry on with the blood tests to see what is happening and to be even more observant with our little man.
Shay is such a contented, happy little boy at the moment who I can't imagine being without. I love his hugs and kisses, the way he laughs when you tickle him brings you absolute pleasure. Even when he is being a rascal!! the other day I was putting the rubbish out and he quickly ran behind me banged the door and turned the key. Looking at him through the porch window laughing even made me laugh. It took alot of persuading to get him to turn the key to let me back in.
I would like to thank everyone who has supported Shay this year and especially all of the fund raising for our little boy. Shay's childminders Sally & Mick we would like to say thank you for all the money that you have donated to GOSH on Shay's behalf and the consideration and support you have shown our family. Simon and the team in West Hamstead who raised £2560 for GOSH a huge thank you from all of us. To everyone at the Murchu-Duiginn Irish dance school who raised a substantial amount of money to send Shay to Disneyland in Florida. The kindness you have shown to our family will always be remembered and we can't thank you enough, our memories will last forever. Also not forgetting people we don't even know who has sent in money to the Shay Murray fund account. People who don't know Shay have shown so much kindness this year to our family.
We would like to wish you all a very Happy Christmas and a prosperous new year.
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.
Monday 21 December 2009
Saturday 12 December 2009
I'm a Celebrity!!!
What a fantastic day Shay has had at Chrissy's Irish Dancing class feis. Thanks to two dancers who spotted a celebrity just across the road and very quick thinking managed to get everyone out. The poor fella was going shopping and only stopping to fill up with petrol!! Within two minutes he was surrounded by all the dancers plus mums, nans and whoever else you can think of.
Gino from I'm a celebrity was kind enough to come and join everyone at the feis and even stayed to watch some Irish dancing. Gino was more than happy for me to take his picture with our little man and was kind enough to give me permission to publish it on Shay's blog. Absoultely Fantastico!!!!
Monday 7 December 2009
A Happy Shay
Shay is in a good place at the moment and is feeling happy, contented and most importantly healthy. He has finished his course of inhalers and only needs them occasionally, his chest has cleared and he is no longer coughing.
He will be having another transfusion just before Christmas to ensure he stays well and healthy for the Xmas celebrations.
It's the first year that Shay now knows it's Christmas. He can point out Father Christmas to me and also a Christmas tree. When he sees toys he wants on the television he has started to copy Chrissy and will say 'Me me' especially when it's anything to do with construction and trains.
A little story that really made me laugh and cry at the same time. Chrissy was practising her Irish Dancing in the lounge and doing her walking exercises. Shay was watching her for about 10 minutes then decided to join in. Well I was shocked to say the least, he got up on his toes and started copying her.Shay did try crossing his feet but that was a bit much as he kept falling over. He was smiling at me and I have to say he made such an effort keeping his arms tucked in that he put his sister to shame. Shay has been around the dancing so long now that he can do cuts, points and even outs on command it is the most magical thing to see.
Shay's development is remarkable considering there are children out there with Pearson's syndrome that cannot walk, sit, talk and have to be tube fed. It's a horrific illness that takes even the slightest development away. So seeing Shay move on in his development gives us hope and we pray we can continue to see him develop and enjoy life to the fullest.
He will be having another transfusion just before Christmas to ensure he stays well and healthy for the Xmas celebrations.
It's the first year that Shay now knows it's Christmas. He can point out Father Christmas to me and also a Christmas tree. When he sees toys he wants on the television he has started to copy Chrissy and will say 'Me me' especially when it's anything to do with construction and trains.
A little story that really made me laugh and cry at the same time. Chrissy was practising her Irish Dancing in the lounge and doing her walking exercises. Shay was watching her for about 10 minutes then decided to join in. Well I was shocked to say the least, he got up on his toes and started copying her.Shay did try crossing his feet but that was a bit much as he kept falling over. He was smiling at me and I have to say he made such an effort keeping his arms tucked in that he put his sister to shame. Shay has been around the dancing so long now that he can do cuts, points and even outs on command it is the most magical thing to see.
Shay's development is remarkable considering there are children out there with Pearson's syndrome that cannot walk, sit, talk and have to be tube fed. It's a horrific illness that takes even the slightest development away. So seeing Shay move on in his development gives us hope and we pray we can continue to see him develop and enjoy life to the fullest.
Friday 27 November 2009
Back in hospital
Shay took a turn for the worst Tuesday. His breathing was shallow and rapid his cough got worst all of a sudden and his temp reached 39.5 .His heart was racing at 156 and we realised this is the worst we have seen him he wasn't coping very well.
With his temperature we knew we had to get him into hospital immediately. Our local was very efficient this time around and soon blood cultures were taken and IV antibiotics where being pumped into Shay. The blood cultures take 48hrs to come back so the wait began to see whether Shay had a viral or a bacterial infection.
The hospital were unable to stabilize Shay's temperature, it was going between 38 and 39.5. Once the temperature took hold calpol might as well of been water for all the good it done. Neurophen worked to a degree where it kept Shay's temperature from going passed 38 and it was a struggle to keep Shay cool.
To see our little boy shaking and vomiting because he was so hot was absolutely soul wrenching. This went on for two days with the added worry of Shay not eating anything but at least he was drinking plenty of fluids.
He was still on his Ventolin inhaler every 2hrs whether asleep or awake and also through the night which made him even more irritable. His chest was very tight and wheezy and his coughing was making him exhausted. Shay wasn't the boy he normally is even when he is ill. At times he looked disorientated and confused especially when his temperature really peaked. He wasn't the smiley cheeky little monkey that everyone knows and adores, to be in a position where we felt useless and unable to help him made us feel completely inadequate.
Shay is now back home, he got ill very quickly but he got better just as quick. He has had a chest xray that showed his chest was clear and his blood cultures showed it was not a bacterial infection. Shay is still very wheezy so we will carry on with his inhaler for the next week. He also had his 10th blood transfusion while he was in and he coped really well with this. Shay has bought home alot of meds to take over the next week and was given oral antibiotics to take for another week.
The future as everyone knows is very uncertain for Shay. Shay being diagnosed with Pearson's Syndrome has completely changed our perspective on life. We pray that we can keep him healthy and well over the next couple of months. Since the middle of September it seems to us to be one thing after the other with Shay's health. Life is very unfair to our son who's health has been completely taken away by this horrific disease. There is no cure as yet but we will always hope and pray that a miracle will happen for our darling boy. There needs to be more funding for Mitochondrial research and for people to be made aware of Mitochondrial disease. It is an illness that is hidden and you can't always see what is going on until it is too late.
With his temperature we knew we had to get him into hospital immediately. Our local was very efficient this time around and soon blood cultures were taken and IV antibiotics where being pumped into Shay. The blood cultures take 48hrs to come back so the wait began to see whether Shay had a viral or a bacterial infection.
The hospital were unable to stabilize Shay's temperature, it was going between 38 and 39.5. Once the temperature took hold calpol might as well of been water for all the good it done. Neurophen worked to a degree where it kept Shay's temperature from going passed 38 and it was a struggle to keep Shay cool.
To see our little boy shaking and vomiting because he was so hot was absolutely soul wrenching. This went on for two days with the added worry of Shay not eating anything but at least he was drinking plenty of fluids.
He was still on his Ventolin inhaler every 2hrs whether asleep or awake and also through the night which made him even more irritable. His chest was very tight and wheezy and his coughing was making him exhausted. Shay wasn't the boy he normally is even when he is ill. At times he looked disorientated and confused especially when his temperature really peaked. He wasn't the smiley cheeky little monkey that everyone knows and adores, to be in a position where we felt useless and unable to help him made us feel completely inadequate.
Shay is now back home, he got ill very quickly but he got better just as quick. He has had a chest xray that showed his chest was clear and his blood cultures showed it was not a bacterial infection. Shay is still very wheezy so we will carry on with his inhaler for the next week. He also had his 10th blood transfusion while he was in and he coped really well with this. Shay has bought home alot of meds to take over the next week and was given oral antibiotics to take for another week.
The future as everyone knows is very uncertain for Shay. Shay being diagnosed with Pearson's Syndrome has completely changed our perspective on life. We pray that we can keep him healthy and well over the next couple of months. Since the middle of September it seems to us to be one thing after the other with Shay's health. Life is very unfair to our son who's health has been completely taken away by this horrific disease. There is no cure as yet but we will always hope and pray that a miracle will happen for our darling boy. There needs to be more funding for Mitochondrial research and for people to be made aware of Mitochondrial disease. It is an illness that is hidden and you can't always see what is going on until it is too late.
Monday 23 November 2009
Not a good start to the week
Seems to be one thing after the other at the moment. Shay was coughing through the night it sounded like a croupy cough. His temperature remained steady throughout just this awful cough that has so suddenly appeared out of no where.
He is back on his Ventolin inhaler having 10 puffs every two hours then gradually reducing it over the next five days. Shay is again having antibiotics so hopefully he will fight this himself and won't need to go near a hospital.
He is eating very poorly again and even when we manage to get food into his mouth he spits it out. We are going through tons of yoghurts at the moment as this does not take as much energy to eat.
It looks like it is going to be another week staying in doors until our little man is better. Saying all this as usual Shay is still smiling and giggling and just taking everything in his stride. What a very special boy we have.
He is back on his Ventolin inhaler having 10 puffs every two hours then gradually reducing it over the next five days. Shay is again having antibiotics so hopefully he will fight this himself and won't need to go near a hospital.
He is eating very poorly again and even when we manage to get food into his mouth he spits it out. We are going through tons of yoghurts at the moment as this does not take as much energy to eat.
It looks like it is going to be another week staying in doors until our little man is better. Saying all this as usual Shay is still smiling and giggling and just taking everything in his stride. What a very special boy we have.
Monday 16 November 2009
Yet again!
Yet again Shay has been poorly. After the last time we thought we might have a few weeks grace of Shay being healthy.
It started of with Shay vomiting and unable to keep his food down. At Shay's hematology clinic we collected a urine sample from Shay as he was also in great pain when passing urine. They redone his bloods as the week before it was 9 and Shay did not look like his Hb was 8 let alone 9. His Hb turned out to be a low 7.3 a quick phone call and he was booked in the next day for his transfusion.
Shay's transfusion went without a hitch I can honestly say that he enjoys the experience now and loves all the fuss he receives from the doctors and nurses.
The next day we received a phone call from his GOSH saying Shay's urine culture showed a bacterial growth of EColi. Panic stricken we phoned our local hospital who wanted to brush it under the carpet saying maybe it was a contamination in his urine.
The next couple of days was absolutely hell for us. Shay's Metabolic care team knew absolutely nothing about Shay's urine growing the EColi bacteria. We were told that Shay needed a full check, full blood count looking at specific things because of his Metabolic disease and also a urine/stool sample all to be done immediately. Our local hospital has not bothered once to contact the lead consultant in Shay's care to ask for advice. We made contact with his metabolic Dr who gave us the information that we needed to pass onto the local.
So you would think now we know what has to be done for Shay it would be easy. No, hospitals are never easy. Arriving at our local we were told that Shay could come back tomorrow for his bloods and there was no need to do it until then.
Alan had to refuse to leave the hospital, I got on the phone to the head consultant and within 5 minutes the ward Doctors attitude changed completely towards Shay. The consultant I phoned was on the phone to the ward immediately after my phone call.
Shay's urine did come back a 2nd time with a EColi growth and he was on meds for a week. He coped extremely well with the infection and surprised us all at his quick recovery.
I am extremely angry in the care of Shay. What happens when something is drastically wrong with him? Supposing he suddenly goes into Metabolic crisis will these Doctors really know what to look for. Metabolic crisis happen more often in people with certain metabolic disorders (some fatty acid oxidation disorders, amino acid disorders, and organic acid disorders). They are often triggered by things like illness or infection or going without food for a long time. If it is not treated straight away it can lead to breathing problems, seizures, coma and sometimes even death can occur.
The future of Shay's care is an enormous worry now. Waking in the middle of the night has now become a regular occurrence with my head bursting with worries for the future of our little boy.
It started of with Shay vomiting and unable to keep his food down. At Shay's hematology clinic we collected a urine sample from Shay as he was also in great pain when passing urine. They redone his bloods as the week before it was 9 and Shay did not look like his Hb was 8 let alone 9. His Hb turned out to be a low 7.3 a quick phone call and he was booked in the next day for his transfusion.
Shay's transfusion went without a hitch I can honestly say that he enjoys the experience now and loves all the fuss he receives from the doctors and nurses.
The next day we received a phone call from his GOSH saying Shay's urine culture showed a bacterial growth of EColi. Panic stricken we phoned our local hospital who wanted to brush it under the carpet saying maybe it was a contamination in his urine.
The next couple of days was absolutely hell for us. Shay's Metabolic care team knew absolutely nothing about Shay's urine growing the EColi bacteria. We were told that Shay needed a full check, full blood count looking at specific things because of his Metabolic disease and also a urine/stool sample all to be done immediately. Our local hospital has not bothered once to contact the lead consultant in Shay's care to ask for advice. We made contact with his metabolic Dr who gave us the information that we needed to pass onto the local.
So you would think now we know what has to be done for Shay it would be easy. No, hospitals are never easy. Arriving at our local we were told that Shay could come back tomorrow for his bloods and there was no need to do it until then.
Alan had to refuse to leave the hospital, I got on the phone to the head consultant and within 5 minutes the ward Doctors attitude changed completely towards Shay. The consultant I phoned was on the phone to the ward immediately after my phone call.
Shay's urine did come back a 2nd time with a EColi growth and he was on meds for a week. He coped extremely well with the infection and surprised us all at his quick recovery.
I am extremely angry in the care of Shay. What happens when something is drastically wrong with him? Supposing he suddenly goes into Metabolic crisis will these Doctors really know what to look for. Metabolic crisis happen more often in people with certain metabolic disorders (some fatty acid oxidation disorders, amino acid disorders, and organic acid disorders). They are often triggered by things like illness or infection or going without food for a long time. If it is not treated straight away it can lead to breathing problems, seizures, coma and sometimes even death can occur.
The future of Shay's care is an enormous worry now. Waking in the middle of the night has now become a regular occurrence with my head bursting with worries for the future of our little boy.
Sunday 1 November 2009
Winter is coming!!!!
Shay has been poorly the last couple of weeks. He started off with a slight runny nose and I soon got him down the doctors for antibiotics before anything set in. After 5 days the medicine seemed to be working but then he started coughing again. Shay was put on another lot of antibiotics which seem to be keeping the cough under control. He still has a cough but thank God it hasn't turned into anything nasty. Keeping everything crossed that it doesn't end up in another hospital visit for him.
Shay had his regular 2 week blood test last week and amazingly his hb was 9!!! He was due for his 4 weekly transfusion last Friday but because of his levels that has been cancelled and he is having another blood test on Wednesday. Why we thought it totally odd was because Shay is looking extremely pale, not eating and he has absoultely no energy. He is gagging on his food so is eating very small bits after such a brillant start in October with his weight gain, it is worrying to think he might lose the weight that he has gained. He has dark circles under his eyes even though he is sleeping well. Shay's neutrophill count is low at 0.34 but stable, normally when he is ill it drops as low as 0.03.
We are at GOSH this week so we can be sure he will have a through checkup with them. Last Winter before Shay was diagnosed he was so poorly and it's frightening to think of him being so ill again it was a terrible time for our little boy.
In early January Shay will have more tests on his eyes they are still extremely delicate and he wakes up some mornings in pain and will be constantly rubbing them. It only seems to happen to one eye at a time and never both eyes together. Shay is such a happy soul who we can't imagine being without. He has countless hospital visits that he just takes in his stride as though this happens to every child he knows no different. Pearsons syndrome has already changed his young life and ours beyond anyones imagination life is being very cruel to our little boy. Everyone who knows Shay knows what a special boy he is and he enjoys every minute of everyday to its fullest God bless him.
Shay had his regular 2 week blood test last week and amazingly his hb was 9!!! He was due for his 4 weekly transfusion last Friday but because of his levels that has been cancelled and he is having another blood test on Wednesday. Why we thought it totally odd was because Shay is looking extremely pale, not eating and he has absoultely no energy. He is gagging on his food so is eating very small bits after such a brillant start in October with his weight gain, it is worrying to think he might lose the weight that he has gained. He has dark circles under his eyes even though he is sleeping well. Shay's neutrophill count is low at 0.34 but stable, normally when he is ill it drops as low as 0.03.
We are at GOSH this week so we can be sure he will have a through checkup with them. Last Winter before Shay was diagnosed he was so poorly and it's frightening to think of him being so ill again it was a terrible time for our little boy.
In early January Shay will have more tests on his eyes they are still extremely delicate and he wakes up some mornings in pain and will be constantly rubbing them. It only seems to happen to one eye at a time and never both eyes together. Shay is such a happy soul who we can't imagine being without. He has countless hospital visits that he just takes in his stride as though this happens to every child he knows no different. Pearsons syndrome has already changed his young life and ours beyond anyones imagination life is being very cruel to our little boy. Everyone who knows Shay knows what a special boy he is and he enjoys every minute of everyday to its fullest God bless him.
Saturday 17 October 2009
A New Arrival!!
Shay has a cough and slight cold at the moment. Luckliy enough we caught it in the early stages and the antibiotics seem to be keeping it at bay. Shay is a tough little cookie who even though he has been tired the last couple days continually pushes himself and will not give in to how grotty he feels. Shay has had the holiday of a lifetime and the next in the list of dreams is a puppy :0). We wanted Shay to experience having a pet in the house. We have found the most adorable pup who is a Shihtzu. 'Buster' as Shay and Chrissy have called him will become the 4th member of our family on the 31st October. Just seeing Shay holding the pup at 3 weeks old was precious, he absoultely adored the pup. Buster was the calmest of all the pups and when Shay was holding him he even fell asleep. I'll post the picture of Shay and Buster tommorow.
Tuesday 6 October 2009
Always in our hearts
Life has been steady of late, Shay has had two transfusions since the 28th August and has remained healthy even though his neutrophill count is very low and along with his platelet count.
I have heard some devasting news today about a very special little girl called Cadence. Cadence has been battling with pearsons since she was born. I have been talking to her Mum the last few months who lives in Alaska. Cadence was only 5 years old when she sadly passed away on the 2nd October. Words can't describe how this has left us feeling and I can't begin to imagine the raw pain and agony Cadence's family are going through. Cadence will alway's remain in my thoughts and prayers, God bless her. Say a prayer for our little man as he is at the beginning of pearsons and needs all the miracles that God can give him.
I have heard some devasting news today about a very special little girl called Cadence. Cadence has been battling with pearsons since she was born. I have been talking to her Mum the last few months who lives in Alaska. Cadence was only 5 years old when she sadly passed away on the 2nd October. Words can't describe how this has left us feeling and I can't begin to imagine the raw pain and agony Cadence's family are going through. Cadence will alway's remain in my thoughts and prayers, God bless her. Say a prayer for our little man as he is at the beginning of pearsons and needs all the miracles that God can give him.
Friday 2 October 2009
Even grown ups have to get in on the act!!!
Shay adored Buzz lightyear and approached him in the only way I can described as ready to fight the baddies. Fists clenched arms out and making growling noises :0)
Thursday 1 October 2009
A very magical trip!!
Shay absoultely adored the Disney characters, which totally amazed us. We at least thought he would have run screaming from at least some of them. By the end of the first week he was running around with his autograph book and pen for the characters to sign. Shay being Shay absoultely adored Cinders, he was picked out at one character dinner to have a dance with her. Swaying to the music and smiling at Cinders with those beautiful eyes was enough to bring tears to our eyes. What a fantastic time Shay had, even now he looks through his autograph book and we sit and talk about everyone who signed.
Monday 24 August 2009
Words cannot express
When we got told there was no cure for Shay’s illness our world crumbled, every day is hard to keep life fairly normal for both the children. The kindness people are showing us has been totally overwhelming and at times it is difficult to know exactly what to say to people. As knowing what to say brings you back onto that emotional rollercoaster where it is hard to get off once you’re on and staying on it too long is just unbearable.
We would like to say thank you to everyone who has donated to ‘The Shay Murray Fund Account’ we have been lucky enough to have such amazing support and kindness shown to our son Shay through these last few weeks. Words cannot describe how touched we have been by the generosity of the ‘Murchu Duiginn Irish Dancing School’ in London. Chrissy has been dancing at this school since Shay was 3mnths old and they have supported our family throughout Shay’s illness. We would like to say a huge thank you to the people who started the fund in the first place, without them none of this would have happened. Maria, Fiona and Sharon we don’t know how we can ever repay your kindness for thinking of Shay and fundraising in such a short time. The whole school are giving us memories of our son that no matter what happens will be with us for eternity to us these memories will be priceless. Not forgetting to thank our friends, families, our community, and complete strangers who have donated. You have all surrounded our family with love and support. We can truly say, all of you special people have been supportive and that has kept our family together during this very trying time. Friends, family and people we don’t even know have opened their hearts and wallets to help Shay in sending him to that once in a lifetime holiday to Disney. Your help and support has meant so much to us all, words cannot express our gratitude for you enough. Your generosity will be remembered always. Again, we thank you all on behalf of Shay and the rest of the family and look forward to sharing some very special pictures of Shay at Disney and for giving us the most magical memories of our son.
We would like to say thank you to everyone who has donated to ‘The Shay Murray Fund Account’ we have been lucky enough to have such amazing support and kindness shown to our son Shay through these last few weeks. Words cannot describe how touched we have been by the generosity of the ‘Murchu Duiginn Irish Dancing School’ in London. Chrissy has been dancing at this school since Shay was 3mnths old and they have supported our family throughout Shay’s illness. We would like to say a huge thank you to the people who started the fund in the first place, without them none of this would have happened. Maria, Fiona and Sharon we don’t know how we can ever repay your kindness for thinking of Shay and fundraising in such a short time. The whole school are giving us memories of our son that no matter what happens will be with us for eternity to us these memories will be priceless. Not forgetting to thank our friends, families, our community, and complete strangers who have donated. You have all surrounded our family with love and support. We can truly say, all of you special people have been supportive and that has kept our family together during this very trying time. Friends, family and people we don’t even know have opened their hearts and wallets to help Shay in sending him to that once in a lifetime holiday to Disney. Your help and support has meant so much to us all, words cannot express our gratitude for you enough. Your generosity will be remembered always. Again, we thank you all on behalf of Shay and the rest of the family and look forward to sharing some very special pictures of Shay at Disney and for giving us the most magical memories of our son.
Saturday 15 August 2009
Thanks a million
We would like to say a huge thank you to Simon who has done absoultely fantastic in raising funds for 'Great Ormond Street Hospital' on Shay's behalf. Simon's justgiving page has done brillant in the short amount of time that he has had to raise funds. We are sure that it has been an enjoyable experience as well. Simon alongside Leonie has made a huge impact on Shay's life and it is a fantastic feeling knowing Shay has so many people around him who is constantly looking out for his wellbeing. Thanks Si!
Friday 31 July 2009
The end to a very long week
Shay was admitted to Watford general Monday afternoon. He had a cough which can only be described as dry and slightly annoying for Shay. His temperture zoomed sky high and when it reached 38.9 we decided he needed to be admitted. We are getting so use to running around packing bags for our little man now; but this time knowing he would more than likely be spending the week rather than a few hours in hospital.
The Doctors and nurses who are all gradually getting to know Shay by sight have been fantastic. The care Shay has received has been outstanding. The hospital knew exactly what to do and in a matter of minutes they accessed Shay's port and had an IV antibiotic drip up and running. Blood was taken to culture which took 48hrs for the results to come back, this showed that Shay had a viral infection. We also discussed the possibility of Shay going on Tamiflu. Tamiflu for Shay would only shorten the illness by 24hrs and would in fact make him feel lousy. As Shay's symptons were only a a high temperture, slight cough and a snuffly nose it was decided not to give it to him as he was coping so well.
Shay's Hb levels also took a nose dive along with his neurophill and platelet count. He has had another red cell transfusion which this time around he fell asleep!!!
So after a very long week for our little boy he is now back home and it feels great to have him in his bed sleeping like the angel that he is.
Hb - 8.4
Neurophills - 0.05
Platlets - 58
WBC - 2.77
The Doctors and nurses who are all gradually getting to know Shay by sight have been fantastic. The care Shay has received has been outstanding. The hospital knew exactly what to do and in a matter of minutes they accessed Shay's port and had an IV antibiotic drip up and running. Blood was taken to culture which took 48hrs for the results to come back, this showed that Shay had a viral infection. We also discussed the possibility of Shay going on Tamiflu. Tamiflu for Shay would only shorten the illness by 24hrs and would in fact make him feel lousy. As Shay's symptons were only a a high temperture, slight cough and a snuffly nose it was decided not to give it to him as he was coping so well.
Shay's Hb levels also took a nose dive along with his neurophill and platelet count. He has had another red cell transfusion which this time around he fell asleep!!!
So after a very long week for our little boy he is now back home and it feels great to have him in his bed sleeping like the angel that he is.
Hb - 8.4
Neurophills - 0.05
Platlets - 58
WBC - 2.77
Wednesday 29 July 2009
Results
On Monday Shay was at GOSH to see his Metabolic consultant. Alot of the test results are not back as yet. When Shay had his operation they took quite alot of blood to test the functioning of his major organs. We received fantastic news that at present they are working how they should be. No kidney leakage, no problems with his brain or heart.
Some of his levels they were checking have come back extremely low and they have taken more blood to check this wasn't a bogus result. One of the tests were for his carnitine levels. Carnitine plays a critical role in Shay's energy production. It transports long-chain fatty acids into the mitochondria so they can be oxidized to produce energy. What I understand is his carnitine levels could be why Shay is always clumsy when running, walking and is always quite lethargic. He will often be found hanging around our legs and asking to be picked up.
His consultant has also taken another sample of Shay's stool (he was able to offer this up on command). Shay's stools have been extremely loose the last couple of weeks to the point where his nappy is unable to hold it in. This test will see if his pancreas is working how it should be. It's hard to listen to Shay's doctors talking about his condition without becoming an emotional mess. When they are talking it is always 'that is not happening YET' sometimes I would like to hear hopefully that won't happen. Talking about Shay's Pancreas we were told in pearsons pancreatic involvement seems to be something that seems to always happen. Well!!! we just happen to think our son is the most amazing child with everything to live for. He is one very special boy who has touched the hearts of not just us his family but hundreds of people. We don't think Shay is a text book case so anything can happen. Maybe it is Shay who will be different because one child has to be for the future of the rest of the little darlings living in what can only be described as hell.
Some of his levels they were checking have come back extremely low and they have taken more blood to check this wasn't a bogus result. One of the tests were for his carnitine levels. Carnitine plays a critical role in Shay's energy production. It transports long-chain fatty acids into the mitochondria so they can be oxidized to produce energy. What I understand is his carnitine levels could be why Shay is always clumsy when running, walking and is always quite lethargic. He will often be found hanging around our legs and asking to be picked up.
His consultant has also taken another sample of Shay's stool (he was able to offer this up on command). Shay's stools have been extremely loose the last couple of weeks to the point where his nappy is unable to hold it in. This test will see if his pancreas is working how it should be. It's hard to listen to Shay's doctors talking about his condition without becoming an emotional mess. When they are talking it is always 'that is not happening YET' sometimes I would like to hear hopefully that won't happen. Talking about Shay's Pancreas we were told in pearsons pancreatic involvement seems to be something that seems to always happen. Well!!! we just happen to think our son is the most amazing child with everything to live for. He is one very special boy who has touched the hearts of not just us his family but hundreds of people. We don't think Shay is a text book case so anything can happen. Maybe it is Shay who will be different because one child has to be for the future of the rest of the little darlings living in what can only be described as hell.
Tuesday 21 July 2009
Cancelled visit
Shay's hospital appointment yesterday was cancelled due to his consultant having flu. This appointment was to talk through Shay's results, but now it will be a couple of weeks before we know anything.
Shay has very slight pain with his port now, but we are still very cautious about how we lift him up as this still causes him a great deal of discomfort.
He will gladly show of his scars to anyone that wants to see and when he puts a t-shirt on he will blow kisses and say 'bye' to it bless him.
Shay has very slight pain with his port now, but we are still very cautious about how we lift him up as this still causes him a great deal of discomfort.
He will gladly show of his scars to anyone that wants to see and when he puts a t-shirt on he will blow kisses and say 'bye' to it bless him.
Thursday 16 July 2009
Back Home
Shay is now back home from hospital and we are no further along with finding out what was wrong with him. As soon as his pain disappeared they said he can go home now. So what was the problem in the first place? some doctors seem to think if the pain has suddenly gone then the child must be better. It seems some in the medical profession get to a certain level in their career and they forget what basic bedside manners mean and what they can learn by listening to parents rather than their noses stuck in the air and pretending to know what is wrong with Shay; when in reality they have not got the slightest clue as even they have to rely on the internet for information on this horrible syndrome.
We were told Shay had constipation/wind then we kindly mentioned that an xray showed otherwise and that everything was normal as it should be. Shay constipated??? if only that was the case. Shay's bowels were soft to touch and his stomach was nice and soft, the only part that was rock hard with Shay guarding himself was around the liver region. Angry is not even able to describe how we feel about it all. Shay is back up at GOSH next week to see his lead metobolic consultant in his care so hopefully he will be checked out more fully than what he was at our local hospital.
He is in alot of pain and is very wobbly on his feet.
Just a quick reminder to everyone as it is so so easy to forget. Don't lift Shay up from under his arms this is extremely painful for him and the poor babe is now refusing to give cuddles just in case he is lifted the wrong way. Shay is so adorable he will now show his port to you so that he knows that you know not to lift him bless him.
We were told Shay had constipation/wind then we kindly mentioned that an xray showed otherwise and that everything was normal as it should be. Shay constipated??? if only that was the case. Shay's bowels were soft to touch and his stomach was nice and soft, the only part that was rock hard with Shay guarding himself was around the liver region. Angry is not even able to describe how we feel about it all. Shay is back up at GOSH next week to see his lead metobolic consultant in his care so hopefully he will be checked out more fully than what he was at our local hospital.
He is in alot of pain and is very wobbly on his feet.
Just a quick reminder to everyone as it is so so easy to forget. Don't lift Shay up from under his arms this is extremely painful for him and the poor babe is now refusing to give cuddles just in case he is lifted the wrong way. Shay is so adorable he will now show his port to you so that he knows that you know not to lift him bless him.
Wednesday 15 July 2009
Back in hospital
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.
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.
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.
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.
Thursday 30 April 2009
3rd Blood Transfusion
We are all glad that the weekend is now upon us. Shay has been through so much this week and at times totally heartbreaking to see our son in absoulte agony.
Shay had his transfusion today a day earlier than expected. He's had a very rough day and it has been the worst day by far. Our poor babe had so many needles inserted into his arms to try to put the cannular into a vein. Shay's arms are black and blue with the failed attempts at one point he was screaming saying "oh dear, oh dear, Mummy Mummy". To see your son going through so much pain and distress is completely soul destroying it breaks your heart.
Shay also had a failed blood test yesterday as his veins have given up. Today was exactly the same in the end they managed to put the cannular into his foot which meant he sat for over four hours while being transfused. The doctor was fantastic and kept apologising to me and she talked to Shay throughout the procedure. To make matters worst half way through the transfusion Shay was showing a reaction to the blood with tiny pin pricks spots up his arms, trunk and face. He didn't have a temp and his blood pressure was fine it was just the rash. Shay has now recovered from this and is now sleeping like an angel in bed.
There really isn't another child like Shay, everything that is thrown at him he just keeps on coming back stronger and stronger. It makes you realise what a very special boy we have and how lucky we are to have two wonderful children who are alway's a joy to be around.
Blood results;
Hb - 6.7
Neurophills - 0.36
WBC -2.64
Platelets - 126
Shay had his transfusion today a day earlier than expected. He's had a very rough day and it has been the worst day by far. Our poor babe had so many needles inserted into his arms to try to put the cannular into a vein. Shay's arms are black and blue with the failed attempts at one point he was screaming saying "oh dear, oh dear, Mummy Mummy". To see your son going through so much pain and distress is completely soul destroying it breaks your heart.
Shay also had a failed blood test yesterday as his veins have given up. Today was exactly the same in the end they managed to put the cannular into his foot which meant he sat for over four hours while being transfused. The doctor was fantastic and kept apologising to me and she talked to Shay throughout the procedure. To make matters worst half way through the transfusion Shay was showing a reaction to the blood with tiny pin pricks spots up his arms, trunk and face. He didn't have a temp and his blood pressure was fine it was just the rash. Shay has now recovered from this and is now sleeping like an angel in bed.
There really isn't another child like Shay, everything that is thrown at him he just keeps on coming back stronger and stronger. It makes you realise what a very special boy we have and how lucky we are to have two wonderful children who are alway's a joy to be around.
Blood results;
Hb - 6.7
Neurophills - 0.36
WBC -2.64
Platelets - 126
Tuesday 28 April 2009
Biopsy
Shay was on great form today and we got him dressed and out of the house before he could even think of his breakfast this morning.
His biopsy went very smooth for Shay and even with the gas mask on him he slowly went to sleep. Unlike last time where his eyes were rolling and he was struggling.
The only problem they had (Shay has to have at least one) was with the removal of the core of bone marrow, another doctor was called in to assist with this and the problem was quickly fixed. All the time Shay was inside with the doctors, Alan and I were trying to look up the corridor through the glass doors timing when he would be out. I'm sure next time there will be curtains put in place to stop us questioning every nurse that leaves through those doors :0).
Blood results to follow tommorow
His biopsy went very smooth for Shay and even with the gas mask on him he slowly went to sleep. Unlike last time where his eyes were rolling and he was struggling.
The only problem they had (Shay has to have at least one) was with the removal of the core of bone marrow, another doctor was called in to assist with this and the problem was quickly fixed. All the time Shay was inside with the doctors, Alan and I were trying to look up the corridor through the glass doors timing when he would be out. I'm sure next time there will be curtains put in place to stop us questioning every nurse that leaves through those doors :0).
Blood results to follow tommorow
Friday 24 April 2009
Another blood test
After numerous phonecalls this morning it was decided that Shay needed another full blood count done for his forthcoming biopsy. This is to make sure that his levels are high enough for him to have a general, otherwise his blood transfusion will be Monday coming instead of the Friday.
As soon as Shay saw the tegaderm plasters and cream Bless him he asked to have his cream on. He really is a courageous little boy with everything that he has to put up with. Next Week is going to be a full on week for Shay with many hours spent in hospital.
Shay's Hb has dropped again since Tuesday but his platlets are back up which is great. He will not need the transfusion on Monday now but is still booked in for next Friday.
Hb - 7.3
Neurophills - 0.4
WBC - 3.3
Platelets - 120
As soon as Shay saw the tegaderm plasters and cream Bless him he asked to have his cream on. He really is a courageous little boy with everything that he has to put up with. Next Week is going to be a full on week for Shay with many hours spent in hospital.
Shay's Hb has dropped again since Tuesday but his platlets are back up which is great. He will not need the transfusion on Monday now but is still booked in for next Friday.
Hb - 7.3
Neurophills - 0.4
WBC - 3.3
Platelets - 120
Thursday 23 April 2009
Forthcoming Bone Marrow Biopsy No.2
We received a phone call from Shay's nurse at Great Ormond Street tonight. They have booked Shay in for his 2nd marrow biopsy next Tuesday. As you know he hasn't lasted as long with the last transfusion and the only way to see how his marrow is progressing is with another biopsy.
A Bone Marrow Biopsy is to examine Shay's bone marrow and identify any abnormality in his developing blood cells. This will tell us the percentage of abnormal cells in his marrow plus many other things that are happening. Previously Shay had 31% ringed sideroblasts - which isn't good and 4% blasts in his marrow- which is good as leukemia is diagnosed at 20% blasts. Shay's blood cells in the marrow will be examined for their shape, size, number and characteristics.
Shay was in a dangerous situation when he had his 1st biopsy under general anaesthetic, his oxygen levels dropped to 40%. What happened to Shay was extremely rare and normally patients need drugs to bring them back around. Shay being being typical Shay managed to come out of it with no help from drugs whatsoever always showing amazing strengh for the amount of things that he has to go through.
A Bone Marrow Biopsy is to examine Shay's bone marrow and identify any abnormality in his developing blood cells. This will tell us the percentage of abnormal cells in his marrow plus many other things that are happening. Previously Shay had 31% ringed sideroblasts - which isn't good and 4% blasts in his marrow- which is good as leukemia is diagnosed at 20% blasts. Shay's blood cells in the marrow will be examined for their shape, size, number and characteristics.
Shay was in a dangerous situation when he had his 1st biopsy under general anaesthetic, his oxygen levels dropped to 40%. What happened to Shay was extremely rare and normally patients need drugs to bring them back around. Shay being being typical Shay managed to come out of it with no help from drugs whatsoever always showing amazing strengh for the amount of things that he has to go through.
Wednesday 22 April 2009
Latest results - 21/4/09
Hb - 7.6
Neurophills - 0.52
WBC - 3.31
Platelets - 76
Shay will be having another blood test on Friday 1st May and it is now looking like another transfusion is just around the corner for him.
His last transfusion has not lasted as long as we hoped so until a diagnosis is made he is just being given supportive care.
His platelets are the lowest they have ever been and Shay does take a longtime to heal from knocks and bumps and he will have bruises for quite a few weeks. We haven't noticed any changes with him bruising more than usual which is a blessing as he really doesn't need anymore problems at this stage.
Shay is constantly amazing us! At the age of two his co-ordination is fantastic he can now jump with two feet and is showing an interest in doing up buttons :0. His speech is coming on remarkably and can phonically sound out the letters you say to him with perfection (If you ask him to do this on command he promptly sucks his thumb and refuses to co-operate with us :0).
Neurophills - 0.52
WBC - 3.31
Platelets - 76
Shay will be having another blood test on Friday 1st May and it is now looking like another transfusion is just around the corner for him.
His last transfusion has not lasted as long as we hoped so until a diagnosis is made he is just being given supportive care.
His platelets are the lowest they have ever been and Shay does take a longtime to heal from knocks and bumps and he will have bruises for quite a few weeks. We haven't noticed any changes with him bruising more than usual which is a blessing as he really doesn't need anymore problems at this stage.
Shay is constantly amazing us! At the age of two his co-ordination is fantastic he can now jump with two feet and is showing an interest in doing up buttons :0. His speech is coming on remarkably and can phonically sound out the letters you say to him with perfection (If you ask him to do this on command he promptly sucks his thumb and refuses to co-operate with us :0).
Tuesday 21 April 2009
Our Green eyed boy
Shay had his monthly appointment at GOSH today and we have come away very unsure and confused of everything that is happening at the moment.
There is no match for Shay on the uk registry but they have found a few mis-matches which is far from ideal but they are going to look more closely at them. Their next step is to do a worldwide search for Shay hoping they will find that perfect 10. The bone marrow transplant is the cure for MDS and hoping that this is what Shay will be diagnosed with rather than the Pearson's.
We were talking to the doctor today and a few things have come to light which we did not know about. I can understand them not telling us everything as until results come in why worry. The doctors think that more than likely Shay has 'Pearson Syndrome' even though he doesn't show all of the symptons. We were told that when they looked at his marrow biopsy months ago and they thought then that he had the 'Pearson's'.
We won't know for sure until that test result is back in which could be weeks or even months, the doctors don't even know. We have to hope and pray that it comes back negative because at the moment we're in a place where no parent wants to be or even deserves to be; this is a syndrome that has no cure, no future and is fatal.
Our family unit has to remain strong for Shay, Chrissy all of us. We are full of hope and belief that our little man is going to have a future that he can look forward to. We refuse to give in and have that taken away from him, his sister and us without putting up a fight for our little man.
There is no match for Shay on the uk registry but they have found a few mis-matches which is far from ideal but they are going to look more closely at them. Their next step is to do a worldwide search for Shay hoping they will find that perfect 10. The bone marrow transplant is the cure for MDS and hoping that this is what Shay will be diagnosed with rather than the Pearson's.
We were talking to the doctor today and a few things have come to light which we did not know about. I can understand them not telling us everything as until results come in why worry. The doctors think that more than likely Shay has 'Pearson Syndrome' even though he doesn't show all of the symptons. We were told that when they looked at his marrow biopsy months ago and they thought then that he had the 'Pearson's'.
We won't know for sure until that test result is back in which could be weeks or even months, the doctors don't even know. We have to hope and pray that it comes back negative because at the moment we're in a place where no parent wants to be or even deserves to be; this is a syndrome that has no cure, no future and is fatal.
Our family unit has to remain strong for Shay, Chrissy all of us. We are full of hope and belief that our little man is going to have a future that he can look forward to. We refuse to give in and have that taken away from him, his sister and us without putting up a fight for our little man.
Wednesday 8 April 2009
Update -Blood Test Results
Shay had his two weekly blood test yesterday. As always he shows remarkable courage and strengh for a two year old and is now so use to having blood taken from him that he even tries this on his beloved Ted. Most two year olds would run screaming from the room with the amount of needles that our darling boy has seen.
His results were a bit of a shock yesterday as he only had his transfusion two weeks ago and we thought they would be on the up rather than down again. To say the least Shay has changed personality since the last transfusion he has become scatty and a joker (even his childminders Sally & Mick have noticed a huge difference in him). The dreaded Tesco shop with Shay can be a major event! Even though Daddy for some unknown reason never has problems when the boys our out shopping together (more likely that Daddy lets him pick everything up)
Shay's latest results;
Hb - 9.3
Neurophills - 0.39
WBC - 2.88
Platelets - 126
His results were a bit of a shock yesterday as he only had his transfusion two weeks ago and we thought they would be on the up rather than down again. To say the least Shay has changed personality since the last transfusion he has become scatty and a joker (even his childminders Sally & Mick have noticed a huge difference in him). The dreaded Tesco shop with Shay can be a major event! Even though Daddy for some unknown reason never has problems when the boys our out shopping together (more likely that Daddy lets him pick everything up)
Shay's latest results;
Hb - 9.3
Neurophills - 0.39
WBC - 2.88
Platelets - 126
Monday 30 March 2009
Birthday Boy - Bone Marrow Registry
Shay had a fantastic birthday yesterday and this year managed to open his presents all by himself much to Chrissy's annoyance as she normally helps him.
As a very special present to our little darling, yesterday we registered to become donors at Harrow lesiure centre and will be on the registry in 3 weeks. A huge thankyou to everyone who was able to make it yesterday as this shows great support for Shay and others like him. I know some of you were unable to register due to the fact the cut off for donating is 40, but once you are on the list you can donate until you are 60. I know this was frustrating for some as 40 is an extremely young age, Alan has only just made it by a few short months :0)
There is another clinic at the end of the month in Harrow and we will post the details as we get them.
Thankyou all for your continuing support of Shay
As a very special present to our little darling, yesterday we registered to become donors at Harrow lesiure centre and will be on the registry in 3 weeks. A huge thankyou to everyone who was able to make it yesterday as this shows great support for Shay and others like him. I know some of you were unable to register due to the fact the cut off for donating is 40, but once you are on the list you can donate until you are 60. I know this was frustrating for some as 40 is an extremely young age, Alan has only just made it by a few short months :0)
There is another clinic at the end of the month in Harrow and we will post the details as we get them.
Thankyou all for your continuing support of Shay
Tuesday 24 March 2009
Tissue Match
Shay had his usual appointment at GOSH today and more bloods taken as one of the tests failed and it has to be redone for him.
Since his blood transfusion Shay looks the picture of health and even having rosy cheeks occasionally :) His complexion is fantastic at the moment and has just as much if not more energy than the average 2 year old.
We did find out some news today and not good. Alan & I are not a match for Shay's tissue type so GOSH will be going onto the donor registry looking for a match for him. A huge disappointment for us, we can't explain how it makes us feel but pretty much useless in helping our little boy at the moment.
Friends and family have been absoultely brillant in offering to donate their marrow for our gorgeous boy. We have been totally overwhelmed with the amount of people who have offered to be a donor. We won't be testing individual people as this is time consuming, expensive and would be absoultely stressful waiting for individual results to come in. Did you know that there are more tissue types than the worlds population. Alan & I are now registering as bone marrow donors so that we can help others and give life to another child or adult.
For anyone wanting to help Shay, Please please please join the bone marrow registry. You never know it could actually be YOU who will be a perfect match for him. If not think about other children who are much worse than Shay and as yet have not had any luck in finding a donor. If you don't match Shay then maybe you could bring health & happiness to another family out there who deserves it just as much as our little boy.
Shay's latest counts;
Hb - 10.3 (Absoultely brillant result, thanks to his transfusion)
Neurophil - 0.55
WBC - 3.53
Platelets 110
Since his blood transfusion Shay looks the picture of health and even having rosy cheeks occasionally :) His complexion is fantastic at the moment and has just as much if not more energy than the average 2 year old.
We did find out some news today and not good. Alan & I are not a match for Shay's tissue type so GOSH will be going onto the donor registry looking for a match for him. A huge disappointment for us, we can't explain how it makes us feel but pretty much useless in helping our little boy at the moment.
Friends and family have been absoultely brillant in offering to donate their marrow for our gorgeous boy. We have been totally overwhelmed with the amount of people who have offered to be a donor. We won't be testing individual people as this is time consuming, expensive and would be absoultely stressful waiting for individual results to come in. Did you know that there are more tissue types than the worlds population. Alan & I are now registering as bone marrow donors so that we can help others and give life to another child or adult.
For anyone wanting to help Shay, Please please please join the bone marrow registry. You never know it could actually be YOU who will be a perfect match for him. If not think about other children who are much worse than Shay and as yet have not had any luck in finding a donor. If you don't match Shay then maybe you could bring health & happiness to another family out there who deserves it just as much as our little boy.
Shay's latest counts;
Hb - 10.3 (Absoultely brillant result, thanks to his transfusion)
Neurophil - 0.55
WBC - 3.53
Platelets 110
Wednesday 18 March 2009
Tuesday 17 March 2009
2nd Blood Transfusion
Today Shay has had another blood transfusion as his hb dropped to 6.9. The last week our brave little man has been fighting tiredness, lack of energy and loss of appetite once again. His eyes have looked extremely tired and red rimmed so we were expecting a transfusion to happen.
Once again our very courageous gorgeous boy has been the model patient in hospital. For 5 long hours he kept the nurses entertained as well as Daddy on his toes.
He done nothing but eat and drink and is now able to tell the nurses where all the different obs equipment should go on his body. Shay will be 2 on the 29th (hard to believe) and looking at him he still looks very young almost as though he is still 18mnths old. We should notice a big difference in his complexion after about 24 hours and of course his energy levels will start to go up, watch out!
Hb - 6.9
WBC - 2.42
Neurofills - 0.33
Plt - 126
Once again our very courageous gorgeous boy has been the model patient in hospital. For 5 long hours he kept the nurses entertained as well as Daddy on his toes.
He done nothing but eat and drink and is now able to tell the nurses where all the different obs equipment should go on his body. Shay will be 2 on the 29th (hard to believe) and looking at him he still looks very young almost as though he is still 18mnths old. We should notice a big difference in his complexion after about 24 hours and of course his energy levels will start to go up, watch out!
Hb - 6.9
WBC - 2.42
Neurofills - 0.33
Plt - 126
Monday 2 March 2009
Shay and not complying to the norm!
Blood tests as usual today and Shay was booked into Watford general for his blood transfusion tommorow as his counts have been diving lately. Then his blood counts came back and our little man has decided against a transfusion this time round. His hb has now actually gone back up from 7.1 to 7.4 even his community nurse was amazed. They are going to do another blood test next week as its still on the verge but to us this shows that his marrow is still trying to fight back and work how it should which is only a big big plus for Shay.
Hb 7.4
Platelets 114
Neurophils 0.13
Shay's neurophils are the lowest they have ever been this is now a big worry for us as he becomes more prone to infections especially chicken pox which has started making its rounds within the local nurserys.
Hb 7.4
Platelets 114
Neurophils 0.13
Shay's neurophils are the lowest they have ever been this is now a big worry for us as he becomes more prone to infections especially chicken pox which has started making its rounds within the local nurserys.
Friday 27 February 2009
At Last!
Finally it has happened, Shay's feet have finally grown :0). He is now a size 5 and we celebrated today by having a trip out to the timberland shop. Shay has been running around in his boots all day and it was hard getting them off him. When Daddy came home from work the first thing Shay did was run and get his new shoooooz for Daddy to see, bless our darling little man.
Wednesday 25 February 2009
Shay Keeping Us On Our Toes Again!
Shay woke up bright as a button this morning full of energy and mischief in his eyes. I dropped him off as normal to his childminders (Playful Minds) at 9 nothing unusual in that.
Shay has had a strange turn at childminding group today. His face went beetroot red and it looked like it was embossed, he suddenly went lethargic and spaced out. Quick thinking Sally & Mick phoned me and as they were at group with the rest of the children they quickly managed to get out and on the way home in a matter of minutes. I know they will be reading this and I want to thank them for how quick they acted especially as they had other children with them.
I took Shay straight to A&E Watford and for the first time everyone was wonderful. They worked quickly and gave Shay his own room because of his neutopenia. The orginal doctor who first saw that something was wrong with Shay back in December was on duty and I thanked him for all he has done for our little man.
Shay had his blood taken and his haemoglobin has taken a nose dive from last week his counts are;
Hb - 7.1 (last week 8.4)
Platelets - 114 (back up)
Neutrofills - 0.34 (slightly up from last week)
Our poor little boy is now looking like that blood transfusion is going to happen within the next few days. He will have one more blood test over the next few days.
We did get fantastic news from GOSH yesterday Shay's stool sample has come back and it is clear. This is absoultely the best news we have heard for a while as it was one of the major tests for the 'Pearson's Syndrome'.
Shay has had a strange turn at childminding group today. His face went beetroot red and it looked like it was embossed, he suddenly went lethargic and spaced out. Quick thinking Sally & Mick phoned me and as they were at group with the rest of the children they quickly managed to get out and on the way home in a matter of minutes. I know they will be reading this and I want to thank them for how quick they acted especially as they had other children with them.
I took Shay straight to A&E Watford and for the first time everyone was wonderful. They worked quickly and gave Shay his own room because of his neutopenia. The orginal doctor who first saw that something was wrong with Shay back in December was on duty and I thanked him for all he has done for our little man.
Shay had his blood taken and his haemoglobin has taken a nose dive from last week his counts are;
Hb - 7.1 (last week 8.4)
Platelets - 114 (back up)
Neutrofills - 0.34 (slightly up from last week)
Our poor little boy is now looking like that blood transfusion is going to happen within the next few days. He will have one more blood test over the next few days.
We did get fantastic news from GOSH yesterday Shay's stool sample has come back and it is clear. This is absoultely the best news we have heard for a while as it was one of the major tests for the 'Pearson's Syndrome'.
Thursday 19 February 2009
Tuesday 17 February 2009
Shay's visit to GOSH
We are alway's nervous and anxious when Shay has to go to GOSH. Shay was on top form this morning laughing and smiling (plus being a little rascal) and generally trying to annoy Chrissy, a typical brother!
At the hospital we discussed the MDS and also the Pearson's syndrome and they really are so closely linked to Shay's blood counts, biopsy and symptons in general. Because of all this they took loads more blood plus a stool sample (he did manage to produce on this occasion)the urine sample was a bit more tricky so we will try catching this tommorow.
To our amazement Shay has gained weight, as you all know Shay does not eat very well. Two weeks ago he dropped from 12k down to 11.8, he was weighed today at 12.8 and has grown a full 2cm.
The doctor was impressed with how Shay is and that he hasn't needed another transfusion and said "he is clinically stable" which really pleased us. This didn't last long. When we got home we had a phonecall from Jemma at GOSH. She had Shay's regular results from today.
All of his counts have dropped and it does look like he will need another transfusion in a couple of weeks. We expected this a couple of weeks ago and was wrong. I found myself for once quite speechless as it was something I thought would be on the up rather than back down.
Neurofills 2 wks ago was 0.4 now is 0.26
Platelets 2wks ago was 115 now is 96
Hemoglobin was 9.4 now is 8.4
At the hospital we discussed the MDS and also the Pearson's syndrome and they really are so closely linked to Shay's blood counts, biopsy and symptons in general. Because of all this they took loads more blood plus a stool sample (he did manage to produce on this occasion)the urine sample was a bit more tricky so we will try catching this tommorow.
To our amazement Shay has gained weight, as you all know Shay does not eat very well. Two weeks ago he dropped from 12k down to 11.8, he was weighed today at 12.8 and has grown a full 2cm.
The doctor was impressed with how Shay is and that he hasn't needed another transfusion and said "he is clinically stable" which really pleased us. This didn't last long. When we got home we had a phonecall from Jemma at GOSH. She had Shay's regular results from today.
All of his counts have dropped and it does look like he will need another transfusion in a couple of weeks. We expected this a couple of weeks ago and was wrong. I found myself for once quite speechless as it was something I thought would be on the up rather than back down.
Neurofills 2 wks ago was 0.4 now is 0.26
Platelets 2wks ago was 115 now is 96
Hemoglobin was 9.4 now is 8.4
Thursday 12 February 2009
When it rains it pours!
Shay woke in such a happy mood this morning, it is hard to believe that anything is actually wrong with him.
The last couple of weeks we have come to realise that our special little man has MDS and that we have to keep things together for everyones sake and what a long road to recovery he has, and it will be long. Life is indeed cruel it gives with one hand and takes with the other with lightning striking again.
We received a letter from GOSH this morning a sort of diagnosis letter and on reading this all I can say was shock set in. Shay's diagnosis is not 100% as they are waiting for other results to come in. In other words he probably has 'MDS' or could have 'Pearson's Syndrome'. The iron stain on the bone marrow came back and it suggested it could be pearson's as Shay has 31% ring sideroblasts.
This has set us back somewhat again and we don't really know what to say. I pray for those results to come back to us as 'MDS' at least with that there is a road to recovery even being a bumpy one but still a bright horizon at the end.
The last couple of weeks we have come to realise that our special little man has MDS and that we have to keep things together for everyones sake and what a long road to recovery he has, and it will be long. Life is indeed cruel it gives with one hand and takes with the other with lightning striking again.
We received a letter from GOSH this morning a sort of diagnosis letter and on reading this all I can say was shock set in. Shay's diagnosis is not 100% as they are waiting for other results to come in. In other words he probably has 'MDS' or could have 'Pearson's Syndrome'. The iron stain on the bone marrow came back and it suggested it could be pearson's as Shay has 31% ring sideroblasts.
This has set us back somewhat again and we don't really know what to say. I pray for those results to come back to us as 'MDS' at least with that there is a road to recovery even being a bumpy one but still a bright horizon at the end.
Thursday 5 February 2009
Latest blood counts!
At 7 o'clock this morning we received a phone call from Shay's nurse. After worrying and waiting for exactly 15 hrs (clock watching is extremely stressful would not recommend) for his blood results we finally got them. His haemoglobin is now a whopping 9.4, Platelets 115 and his wbc/neutrophils are only 0.4. Even though they are still very low especially his neutrophils, Shay's hb and platelets have risen 0.2 since his last transfusion. So at least this month he will not need a transfusion thank God.
Tuesday 3 February 2009
Monday 2 February 2009
Glorious Snow
Shay is absoultely in awe of the snow today, just a shame he can't stay out long in it. This weather is fantastic for him as all those germs are being wiped out.
Today the community nurse was coming to the house to do Shay's bloods but because of the weather this has now been cancelled; she will now do these Wednesday.
Shay is looking slightly paler since the last transfusion but we don't think his levels have dropped below the 7 so hopefully no transfusions.
The last week Shay's appetite has started to dwindle again especially at dinner time, he gets really tired and his eyes look more sunken and red rimmed. Our little boy is still full of energy and still has us running around after him. An afternoon nap would do him the world of good but he completely refuses to sleep.
Today the community nurse was coming to the house to do Shay's bloods but because of the weather this has now been cancelled; she will now do these Wednesday.
Shay is looking slightly paler since the last transfusion but we don't think his levels have dropped below the 7 so hopefully no transfusions.
The last week Shay's appetite has started to dwindle again especially at dinner time, he gets really tired and his eyes look more sunken and red rimmed. Our little boy is still full of energy and still has us running around after him. An afternoon nap would do him the world of good but he completely refuses to sleep.
Thursday 29 January 2009
Shay and Neutropenia
Shay is classed as 'Neutropenia' this means he has an abnormal low number of a particular type of white blood cells called neutorophils, at the moment Shay's is 0.3. The white blood cells are the cells in the blood that play an important role in Shay's immune system by fighting off infection. Shay gets infections easily and often, most of his infections occur in his lungs, throat and sinuses. Over the past few months he has ended up in hospital because of these infections. In our hallway in sight of everyone is antibacterial hand gel; we are asking everyone who comes into the house to use this and to also take off their shoes just to give Shay that extra protection.
Wednesday 28 January 2009
Another Dreaded Cold
Shay has had another cold the last couple of days and a few crackles in his chest. The Doctor has put him back on antibiotics and he is back on his ventolin of 24 puffs a day.
Only last night Alan & I were discussing that we needed to find out Shay's consultants name at Watford General. Amazingly we received a packet in the post this morning from Jemma his nurse at GOSH with his emla cream/plasters and a note saying who the consultant was at Watford and also their mobile number in case we needed anything (very spooky). GOSH have been absoultely fantastic in their care of Shay and we can't praise them enough for all they have done for him.
Only last night Alan & I were discussing that we needed to find out Shay's consultants name at Watford General. Amazingly we received a packet in the post this morning from Jemma his nurse at GOSH with his emla cream/plasters and a note saying who the consultant was at Watford and also their mobile number in case we needed anything (very spooky). GOSH have been absoultely fantastic in their care of Shay and we can't praise them enough for all they have done for him.
Tuesday 27 January 2009
All About Me
Shay came into this world at the amazing weight of 9lbs which was a shock to Alan and especially myself. Shay developed a dairy tolerance from 8Mths this was noticed as soon as he stopped breast feeding and quickly settled down to his still favourite soya milk. Shay's health started declining from May 08,at first we didn't think anything of it. Cold's, virus's normal things what any other child seems to get.Shay became a very fussy eater in May 08 and this gradually got worst through to the August where it was very hard just to get him to eat. Over the summer holidays 08 until December 08 Shay's health took a rapid downward spiral. Any slight cold would turn into a lung, chest infection. He was having them back to back. Numerous visits to A&E, with the Doctors just sending us on our way with calpol. Shay has been through a lot the last few months with countless blood tests, bone marrow biopsy and a blood transfusion. On January 20th 2009 our world collasped with our little boy being diagnosed with (99.9% sure) Myelodysplasia (MDS) This is an extremely rare disease in children and normally affecting older people. The outlook for Shay is he will need a bone marrow transplant, he will spend a minimum of 2 months in isolation having this done and once home will be in semi-isolation for quite a few months afterwards. At this moment Alan and I are waiting to hear if we are a match so we can be his donor. Throughout, Shay has been a happy energetic boy, what ever is thrown at him does not get him down, he has a very very long road ahead of him and know he will get alot worst before he gets better. The reason for this blog is to keep all friends and family informed of his health and to thank everyone for their support and concern.
Subscribe to:
Posts (Atom)