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, 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.
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