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 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.
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