Update so far this year March 2017

Shay has had a busy year so far, a Lumbar Puncture at the start of January, this was due to his stroke like episode. He has seen a Neurologist, ophthalmology, endocrinology, gastroenterology team, palliative care team and a appointment with his local consultant.

We are awaiting the results from the Lumbar Puncture, this is important as this will help tell us what medication needs to be increased to try and help Shay. Whilst having the lumbar punch shay had numerous consultants  pop into see him. As a result of this we had short notice appointments with the consultants from neurology, gastroenterologist and endocrinology. The consultants have been very good, they all mention that the treatment is supportive. The gastro consultant was brilliant and shay took to him, they spoke for ages about football before mum and dad could speak. This doctor arranged for a day of tests which happened last week, so awaiting the results from this, GOSH send the tests to a outside company.

The ophthamology was what we were expecting, his sight has deteriorated again, this appears to happen every 6 months. He has been diagnosed with night blindness.

If you follow this page you will get notifications of when the page is updated. We have recently started a Facebook page called Buildforshay, this has been started to raise awareness of his syndrome, along with charity events to help raising money for a palliative care suite for Shay.

If you have any questions please comment/ email and I will get back to you.

Upcoming Operation and facebook / twitter / YouTube account details

Hi all,

Shay is having a operation next week, a Lumbar punch to measure the fluid levels in his brain. His Professor arranged this urgently due to a stroke like episode a couple of months ago. The Lumbar punch in general is not a big operation, but for a Mitochondrial child it is a big operation.
Shay had one done just over a year ago and we said he would not have one again unless it was very important. This was due to how long Shay took to recover from it, shay struggled for about  5 days.

Hopefully we have covered all bases this year and he will get the medicine he requires straight after the operation.

I will try my utmost to keep this blog updated. You can also follow shay on his facebook page just search for 'Build for shay" he is also on Twitter @Buildforshay. Shay really wants to be a YouTube star so we have only just created his channel so please subscribe for all his videos on YouTube.

Shay will keep you updated more than me as he loves recording everything, I will promise he will have you laughing.

Please comment or contact me if you need to ask anything.

Overnight hospital stay.

On Saturday shay was about to go to bed when I noticed that his right side of his face had dropped and he was talking out of the left side of his mouth. A few questions to see if he was feeling and tingling or pain in his body and we had went to hospital.

Unsure as to what caused this, shay was admitted overnight for tests for a mini stroke. Sunday morning he had a MRI, the tests revealed he did not have a bled on the brain.

Now a waiting to see his professor to see what caused this.

Shay was his normal self, laughing at the bed I was given for the night.

 

Long Awaited Update

I am sorry in not updating this blog for some time.

Since the previous update shay has not had any hospital admissions, things have been happening but overall shay has been keeping well. He is always smiling, laughing and having fun, even winding people up when he is feeling poorly.
He has a fantastic sense of humour, this is something which keeps everyone relaxed.

Shay's eyesight and hearing is still declining, and should be getting a hearing aid very shortly, he has been getting a new prescription every 6 months for new glasses as he is struggling to see in daylight hours due to the brightness, he also struggles to see at night.
I can walk into his room and walk right beside him and he will not see or hear me.

Shays leg muscles are getting weaker and uses his new power wheelchair more and more. When shay gets home from school and goes straight up to bed he is normally joined by his beloved German Shepherd, Holly. They have a fantastic connection, holly licks shays painful legs, and shay says this helps him.
Shay is currently in love with Supercars, always screaming in the car when he sees any.

Please feel free to message me on this to ask any questions, I will try my best to update shays blog, but we have been very busy with numerous appointments. If you wish I can PM a email address to keep more updates.

Latest Update

Again I start this off saying sorry for not keeping this updated.

Since I have last updated this back in January, shay has had lots of appointments, test and he takes everyone of these in his stride.

We have had the results of the Lumbar Punch and this confirmed our thoughts that the syndrome has now progressed into the next stage, meaning that shay has diagnosed as having Kearns-Sayre Syndrome. In very simple terms it means the condition has and will effect his brain. (A positive from this is that we know we have shay around for more years than expected). Shay has been given a medicine which helps slow down the effects on the brain, this has help in his memory recall.

Heart block is one of the main things that we are keeping our eyes open for as this is the next main thing that will effect his life.

Shay has had appointments at his specialist hospital checking his eyes and hearing, and the syndrome has now effected both eyes. Shay had a appointment 6 months earlier and on his latest test they have changed again, so new glass 6 months after his last pair. Shay still complains of pain to the front of his head, and even now a month after his last change of glasses he is complaining that some vision is blurred even with his glasses on and the headaches are back. Shay had a hearing test last month and I was expecting a change in this but not to the level we were told. Shay has is barely just under the level to have hearing aids. The results showed that one ear is worse than the other, his next appointment has been brought forward

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.