Always waiting for more results

I am sorry in the delay, I do keep check on this site and please fell free to leave messages etc for shay. I will always try to answer any questions.

I find that we await results of tests but normally we never get a full answer, as it always opens up more questions. Normally we need to go for some other test to find out what the next step is or to find answers for the current test. So always on going tests and awaiting the next result and then the next.

In August 2014, I wrote about waiting for results of a MRI scan on Shay Brain. I was building myself up for a change in Shays brain, this was due to several things, his memory getting worse, speech, vision, bad migraines and more.
The appointment was a surprise but opened up more questions. His scan showed that it had not got worse than the year before, but this did not answer the question that other problems were arising. So now awaiting an appointment with a neurological consultant, a Lumbar Punch, more eye and hearing tests.

Our Pearson's Professor was happy with the scan, but puzzled with what symptoms he was now showing. Shay was booked in to have his Lumbar Punch at GOSH, normally a day surgery, but with he was booked in to stay overnight.

We arrived early morning for the operation, Shay took longer to come out of recovery due to vomiting. Shay was moved back to his ward after an hour or so, he did not recover like he normally does, he was struggling this time, sleeping, not want to play or even eat a sweet. His feeds went on but on a extremely slow rate. He could not even tolerate this, he would vomit everything back up. He was getting extremely bad migraines , so bad that he just wanted to sleep, whenever he woke he would get sick with the pain.
Shay was on very strong painkillers but this was helping, we stayed a total of 5 nights and it took this time to try and manage his pain, once this was managed he was able to keep down his feeds.

Since our stay in GOSH, shay has had his ophthalmology appointment and been given a stronger prescription, his eye movement is getting restricted by the muscles tightening up.

We are now awaiting more tests re his brain, eyes and hearing.

I will post a photo shortly.

Regards

Dad

Shay

This is just a short message to let you know that Shay is busy with numerous hospital appointments,  its that time of year again with the yearly appointment. We are awaiting certain result and will update here when I get them.

Shay has had a MRI scan, we are awaiting the results which will be when we see main Mitochondrial consultant. Shay has seen his GOSH heart specialist which went well, and after a discussion he is going to have a heart monitor on for a day, due to somethings which occurred over the last few months.

We are awaiting his main hearing and eye sight test at GOSH, I have a feeling on what these results may show but we always keep strong.

Regards
Dad

Ps I am aware that we can go a couple of months without writing on the blog, this is down to shay being well and also busy family life. I would like to let you know that I do look at the site regularly.

Shay worried about moving to Junior school

Tonight Shay was in bed and not in a good mood, he called me and just wanted me to sit with him. After about 10 minutes he says "I don't like juniors, I will miss my friends. I don't want to leave infants"

 

I do my utmost to reassure him that he will see his friends and that he can always pop into infants whenever he wants. He says "I cant pop in every day" (This tells me its more than his friends he does not want to leave, but his teacher / welfare lady). I have told him he can pop in to see his infants teachers anytime.

 

Shay had me with a tear or two rolling down my face, when I looked at him he had tears rolling down his face,
 

Shay fell asleep, but the picture looks like he was in a deep thought before he fell asleep.

 
Shay does not like change, I wish we could keep his teachers and his special people with him. They are worth the weight in gold.

 

 The lady with shay is one of his special teachers. This year would have been so much harder without her. Thank you.

 

Update

Since January Shay has had a couple hospital visits re his bones / joints/ muscles. He has been unable to put pressure on his foot due to pain in his ankle, x-rays are clear so not sure what is happening.

We are awaiting a few hospital appointments re lumbar punch and other test, So July will be a busy month for him. When I have further re his hospital I will keep you all updated.

Shay has managed to do his First Holy Communion, something which I never thought would see.

Shay meets Harry (From McFly)

Shay had a fantastic day yesterday, he met another rock star, Harry from 'McFly'

Harry was impressed with shays dress sense and told him that he will be wearing the jeans and boots in his next video, as shay looked cooler than he did. This impressed shay, who's smile started to get bigger and bigger.

Shay asked me several times if I had said thank you to Harry for meeting him. I did, but shay never fails to amaze me, he always thinks of other people.

My little rock star.

Regards

Alan

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.