A Brief Update on Shay 24/01/2014

Shay has been himself and battling along, as shay does, without any worries, no matter what happens or developments Pearson's syndrome gives us.

He has been diagnosed with Hypoparathyroidism for which he now takes Alfacalcidol drops.

Shay has had his peg changed at GOSH back in October 2013 and whilst this was done he had a lumbar puncture. Shay has had trouble remembering what he done in the morning or he will be unable at times to how to count. He will start to count, but then he will forget what number is next and then you can see he is trying his best to remember but he cannot remember. His face shows that he knew the number and he starts to get upset, so he will change what we were talking about.
With the lumbar puncture result it revealed that his CSF folate levels were low. With these results shay has started to develop symptoms associated with Kearns-Sayre Syndrome. He has been diagnosed with chorionic neurological disorder. He is now on calcium folinate which will hopefully slow the progression down.

A MRI and another Lumbar puncture is being booked in to happen in a few months, so they can compare and see how much his condition has progressed              

Regards
Alan

Recent posts

Hi all,

Sorry that I have been unable to update the sit for a few months, I will get this done in the next week or two.
Briefly shay is fine, and doing well, we have had a few hospital appointments and some low levels in Shay's blood. But I will get this site updated in more details with what has been occurring to shay over the last few months.

Shay has had some fun as he was taken to the police riot training centre by a good friend of his. The  pictures and information about his day will be placed on this site too.

Any questions please feel free to comment on the site and I will get back to you.

Have a Heart Appeal

Shay was invited by Starlight to take part in the ongoing Have a Heart Appeal. The Have a Heart Appeal is raising money to make seriously ill childrens wishes come true. Shay was thrilled to be a part of this appeal and thoroughly enjoyed being interviewed by the shows presenter. He was asked questions about his 'Rock Star Wish' that he received from Starlight last March. As usual Shay enjoyed being the centre of attention and thoroughly enjoyed the interview process.

No coughs, colds or virus’s Shay has been enjoying life germ free! It really is about time that his body was given a rest from all the germs and bugs that have been going around.

Shay is now on an extra feed at night to meet his daily calorie intake. He is on an extra 500ml giving him a whopping 750 extra calories. He coped extremely well with the extra feed as we introduced it 50ml at a time and built up to the 500ml. It was great to see him pile on the weight with this feed and gain a bit more energy! Shay’s muscle tone has improved dramatically as he has been going to children’s fitness sessions and now has quads he can be proud of.

As you know Shay cannot really go more than a few weeks without something happening. He is now in a cast for a fractured tibia. We don’t know how Shay managed to fracture his tibia and he is unable to tell us. He was in tremendous pain but is now relatively pain free, thanks to the cast. The hospital wanted Shay to have a weight bearing cast so it wouldn’t affect his mobility too much. Exactly 24hrs later Shay was in immense pain that even pain meds couldn’t ease for him. So 8 hours and two hospitals later the cast was finally removed and a non-weight bearing one put on. The original cast was put on to tight causing a huge sore on the instep of Shay’s foot!!! The plaster technicians were more interested in talking about lack of staff and how many people were sitting in the waiting room. We are back to fracture clinic this week to see the consultant, so we will be complaining about the lack of care and concentration from the technicians when putting on Shay’s plaster cast.

 

Another heart breaking concern for us is Shay’s lack of memory skills/cognitive development. He thoroughly enjoys learning about the world and most importantly how things work. He can tell you about planes, cars, bikes and railways. When it comes to recalling how to count this can cause major problems for him. In nursery Shay was able to count up to 20. Only the other day he started counting and got to 4 (you could see him getting confused) and then he said “Mum, I lost count”. He tried it two more times and was unable to recall what number comes next. Shay is able to process information but when it comes to recalling everyday skills he isn’t always able to. He struggles with people’s names who he has known for a long time. He has no problem recognising who they are but will stumble over the name. Shay was struggling with my own name a few days ago. I have spoken to other Pearson’s Mum’s and this seems to affect a few of our older children in our group. Some of them are on medication that seems to help their cognitive development. We are seeing his specialist in a few weeks and will bring this up with her. Hopefully there is something that can help Shay improve his memory and cognitive development before it really starts to affect Shay’s learning.

Take care everyone and thank you for keeping Shay in your prayers.

Christmas

Not long after my last post Shay was hospitalised for a week. He had been fighting a cough for quite a few weeks and was on numerous antibiotics. I think everything just got too much for his little body and he was unable to fight the virus on his own. I'm not going to say the doctors made it easy for us in the hospital, far from it! Keeping guard over the IV drip to make sure someone doesn't take it down does not really install our confidence in the doctors who we dealt with.  Again lack of knowledge, understanding and treating Shay like every other child just fighting an illness is just a few things we had to put up with.  The majority of doctors do not realise how things can change very quickly for a child with mitochondrial disease. We ended up putting enormous pressure on the doctors just to get them to phone the mito team at GOSH for advice. I dread the day when something serious might happen and we have to depend on inexperience doctors saving our son's life.
Shay was discharged after a week, but then two days later his stoma site developed a horrible infection which completely knocked him off his feet again. Shay could barely walk with the pain and we felt completely helpless. Shay had a very poorly Christmas period and was bed bound for nearly two weeks. He has had a tough time of it lately and there wasn't many smiles from him.
 Today, Shay is back at school and is having a great social life there. We have realised, this time of year Shay is unable to cope with a full week at school. We are going to keep him at home on one of the days so that he can recoup some of his energy.

A long time coming

It has been a while since I have been able to update Shay's story, I am very sorry for the delay. Shay has had fantastic health since his peg tube placement back in July. He has gone from strength to strength with his feeding. He is still not a great eater but that now is such a little thing since he has feeds through his tube. The pressure has lifted from Shay to eat orally and he is more willing to try a different food at least every couple of months. More likely its a small bite of a new food and then he pulls a yuck face! He doesn't complain of his body aching as much and his energy levels have gone skywards. It is a very demanding job to get him to slow down at the moment. Shay had a fantastic summer and was back to his cheeky self running around causing havoc.
Since September, Shay has had numerous days of school due to him coughing and having the odd virus. Shay is coping really well with the winter months upon us, it has been a long time since he was in hospital because of an illness.
My priority for Shay at the moment is to work through the red tape for him having an educational statement. Our first attempt was declined and our local education authority turned him down on the grounds of refusal to assess. Utter disbelief after the phone call I received!! So the following few months will see me advocating for Shay at meetings, appeals and if necessary tribunals. Shay is a very bright boy and his general knowledge is incredible to say the least. When it comes to other subjects he is like a sponge but a day later its forgotten. It seems he is able to take in all this knowledge but when he comes to retrieve it he finds this very difficult. I find outside professionals do not understand the syndrome he has especially educational specialists. They need to look at Shay as a whole and not concentrate on the little bits if that makes sense. To me Shay's energy in the playground is amazing, something has to give for this and I think his learning has taken a major knock because of this.
I have spent hours today researching trying to find links with mitochondrial disease and a child's education. There is very little on the net with this and I only came up with a few points to help my case with the education authority.

Shay looking super cool, driving a police digger!!

 

A good piece of new is Shay's school are donating all the proceeds of their Christmas concerts donations to a charity connected to mitochondrial disease. They asked me to choose the charity which I was thrilled to be able to help with. It is a registered UK charity for children who have mitochondrial disease. They are not aware yet as it should take a few days to sort out.  Shay has an exciting Christmas planned. There are people out there who are doing very special things for him at the moment. I will up date you all on that very soon.

Awaiting update

I have had one or two posts sent asking on shay is. I am sorry in the delay, but we have been busy with numerous things going on.
We will update the blog over the next couple of days with what has been happening. But for piece of mind shay is well.

Sorry about this delay.