Someone who seems to know what they are talking about...

Shay was at GOSH today seeing a child physiologist who specialises in children with metabolic diseases. At last someone who understands what we are going through and more importantly what Shay might be feeling. We have waited a very long time for this appointment. She has two other children in her clinic she helps, maybe children is not the right word but TEENAGERS! Both have been diagnosed with Pearson’s/Kearns Sayre syndrome. She spoke more of the boy than the girl but it did come across to me the girl has far more complex health issues than the boy. He is 15 years old, lives an independent life even though he does have sight, hearing problems and growth issues. It has made me deliberate further into the future, which I don’t do and prefer to take each week as it comes.
We discussed Shay in general with the only real problem that needs to be tackled is his eating and growth. She said he is very complex as he is a very social eater and he will be up at a buffet table along with the rest of us loading his plate up, but then he doesn’t eat any of it. Shay gets very territorial over his food if anyone tries to take it away, but still he doesn’t eat. I am at a loss as to how he sees food, how it tastes to him and why he shows this sort of behaviour. Metabolic diseases can make food taste differently to individuals but Shay is too young to be able to tell us.
We have to tread with caution so as not to make an issue out of it and just keep trying to do the best that we can for our little man.

Growing...

Shay at last is in a junior bed and out of his cot. Last night he slept in it for the very first time and insisted on a story before he snuggled down. I thought we would have major issues as he doesn't cope very well with change. The fact that it is a toy story bed and all the paraphernalia that goes with that has helped. He has grown 3 Cm's so far this year, not a major growth spurt but he is growing and the cot was getting to small for him. Shay has gone toy story mad at the moment and we are just waiting until he has fully recovered from his cough to take him to see toy story 3.

Sometimes I speak to soon..

Shay has been poorly for the first time this year. He has been battling a cold and cough this last week but he is coping extremely well with it. Shay is on his ventolin inhaler every two hours plus antibiotics which seem to be working.
Today Shay enjoyed his first swimming lesson, it was hard handing over control and watching others with him in the pool. It has taken a while to find the right swimming pool but we managed to find a luxury heated one with one to one instruction. Shay smiled and swam widths with his arm bands for 30 minutes this morning, they even had him swimming on his back! The swimming instructor has been fantastic and went out of her way to find out all about Shay's health and what would be best for him before Shay started swimming. Shay's mobility is extremely important to us and we have to do all that we can to maintain and improve his strength and stability for the future, what better way than swimming.
Shay had his Audiology appointment today at GOSH and we are really pleased that his hearing is perfect. He will not need to be seen for another year now.

Its been a while.....

Life has been hectic as usual for Shay. The last couple of months Shay has enjoyed full health.
So far he has had 14 transfusions and was having these every six weeks until recently. For some unknown reason he has dropped back down to 4 weekly transfusions. Shay has recently had a full cardiac review and his clinical status remains stable. His heart sounds were normal with a systolic murmur, which is an extra sound in between the 1st and 2nd heart beat. At this stage it is nothing to worry about.
Shay has got his audiology, physiotherapy, speech therapy and eyesight reviews shortly, the month of August is going to be a busy time with appointments happening each week.
Shay still doesn't eat very much and it is a battle each day to get him to eat even the smallest of portions. We are working very closely with the dietitian and he is now on 'PaediaSure plus juce' (without the i)which is 300 calories per 200ml bottle. The price of these are day light robbery at over £4 a bottle on the Internet. Shay needs to drink two of these a day and we are pleased to say we have found something he actually likes.

Shay has just come back from a fun filled holiday in Spain. He was in the water every single day and can now swim with his arm bands on no matter how deep the water is. Shay was out there watching the world cup final along with everyone else and it was a special moment when Spain won. All he keeps saying now is 'Espana, Espana'. He coped remarkably well with the heat even though it hit the 38 mark. In total Shay was in Spain for 9 days which was enough for our little fella and he looked glad to be home (pictures to come soon).

Shay had a very special day on Thursday. At the moment he has a fascination with helicopters. So it was arranged to take him into London to see the police helicopters. Shay was very excited when we told him he was going to see them and kept saying 2, 8, 10 blast off! He was even using his hands to show us how the blades on the helicopter goes round. When he was on the airfield he was so excited to actually see the real helicopters. His eyes lit up when he saw the engines being worked on and even more when he saw all the tools on the workbench to fix the engines. Shay wanted to have his picture taken with the engine and the workbench. He was given a badge for his coat and stickers to remember his very special day. Now he thinks that every helicopter he sees in the sky are the ones at the airfield. It's great to see Shay happy and excited he really does deserve the best.

Here are 2 pictures of shay waiting for nursery school to open on his first week. The pictures I think say all what needs saying. These are days we never thought would arrive.

Home again

Shay at last had his blood transfusion today without any problems. We have put in an official complaint with the hospital about the system and process of ordering the blood. This appears to fall to one person when the results are telephoned through to the ward, the doctor on duty. This one person is responsible for ordering the correct blood and ensuring also that they actually check Shay's file for what exactly is needed. Somewhere along the line the process of ordering is failing and this is having an impact on the standard of care Shay receives. I dread the future when something serious might happen, how will the hospital cope when such little things are going wrong now.