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.
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.
Friday 27 November 2009
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.
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