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.

NG Tube

Shay has been pulled from pillar to post the last couple of weeks. After numerous hospital appointments and being told to come back in three months, I insisted on Shay having a Nasogastric tube. At last, I made myself very clear on what I wanted for Shay and expected something done. The stress of Shay not eating was finally taking it's toll on all of us. Over the last 3 years his weight has gone from the 91st centile to just below the 9th centile. The NG has been placed with the understanding that it is a short term measure and that Shay in a few weeks will have a G-Tube placed. It always amazes me how having a child with one of the rarest diseases in the world, you have to hit rock bottom before anyone will listen. We do come across some doctors who don't really know what to do or are unsure of what decision needs to be made. When you see a child who refuses to eat and not just something that happens over a month, it is common sense that intervention is needed.
We were told Shay would start to gag as the tube was placed and to see him so focused when it was being done was painful for me to see. He was an absoulte star throughout the whole procedure. He didn't gag, move or complain!!
Since the placement we haven't had no sickness and he has gone from 50ml to 600ml of feed a day. Shay has also gained weight, in 8 days he has put on a whole kg which he has failed to even do over a whole year.

We are back to see the consultant in early June about the G-tube placement. Shay has had his stomach x-rayed to ensure he is suitable for the tube. Next week, Shay is back at Great Ormond Street to have an MRI done on his brain.

Medical update

Current medication:
Co enzyme Q10 30mg q.d.s
Riboflavin 50mg t.d.s
Nutritional drinks
Arginine - to start around August

Shay's blood count has remained very stable without any transfusions since September 2010. In totally Shay received 16 red cell transfusions. The only line that is still causing minor problems is his platelets, they are between 50-70. Shay is having more problems with his poor appetite and weight gain. His weight is on the 9th centile and his height (101.5cm) is between the 2nd and 9th centiles. At the last clinic his cardiovascular, respiratory and abdominal examinations were all normal.
Neurological examination revealed mild bilateral ptosis worse on his right eye than left. Shay has fine retinal pigmentation bilaterally.
Shay's plasma arginine is slightly low in the plasma amino acid profile at 25 (ref 40-120), and a citrulline of 26. His CSF arginine is low at 11 (ref 15-40). These results were from his last lumber puncture. His CSF lactate was 2.3 slightly elevated.
Shay had a skin biopsy when he had his port removed last year. Fibroblasts were sent for respiratory chain enzymes assays and mitochondrial DNA deletion analysis (this will tell us which complexes etc are affected). Shay is currently waiting for an MRI scan on his brain.
At the clinic Shay had clinical photographs as his Doctor is suspicious that there might be characteristic facies in Pearson syndrome i.e chubby cheeks.
Shay is having very subtle neurological problems which is a feature of mitochondrial DNA deletions and are likely to progress, all we can hope for at this time is for a slow progression.
We have a couple of very important appointments next week regarding G-tube feeding for shay. I will update as soon as things start to progress.

Absolute Radio!

Shay was very excited when he received a big brown envelope from Absolute radio station today. He was even more excited when he played the enclosed disc and listened to himself introducing a song by The Spin Doctors - Two Princes, his ultimate favourite song! They included two signed photographs personalised to Shay from Ian Wright and Frank Skinner (just to add to his ever growing collection). The people who work at this station are amazing and very thoughtful, they have also invited our little man to their children's Christmas party at the end of the year.

Happy 5th Birthday Shay!

The day after Shay's starlight wish was his 5th birthday. What a busy week it has been so far for the little guy. He woke up so excited and kept saying 'I'm 5 now'.
The last three years since Shay was diagnosed has been a nightmare and for us the most important thing was ensuring Shay received the right medical support to the age of 5. This was our ultimate goal. So many children with Pearson's Syndrome don't survive to this age, I knew Shay would. A very bold statement to make I know but somewhere deep down I knew my little boy would be celebrating his 5th birthday. Shay had a fabulous birthday and when he came home from school, there was a huge surprise package waiting for him. A huge surprise for us all! It was addressed to rock star Shay and had the Starlight Emblem all over it. We knew nothing of this and knew that Shay's wish bearer Victoria was responsible. Thank you Victoria!

The Rockband bundle for the WII console.

A couple of days later Shay had a big birthday party to celebrate with all his family and friends from school. He wasn't sure who to invite as he is not very good at remembering names. So we invited the whole of reception!

A football themed party!



Even his favourite teacher from nursery helped Shay celebrate.

Food time!



Parents helping out.



All the children were fantastic.

Rock Star Shay! - Day 2

When we got back to the hotel it didn't take long for Shay to settle down and go to sleep. It was such an exhausting day that we were all asleep by 9.30pm!
The next morning, Shay enjoyed the breakfast buffet, even though he hardly ate anything. Our first stop was the London Aquarium, which was only a five minute walk away. Victoria from Starlight pre-booked tickets for us to visit this fantastic attraction. Shay thoroughly enjoyed all the sea life but his favourites of course was the sharks.

Shay's camera skills!

Shay just loves the camera!

Shay's final wish of the day was to visit Hamley's in Regent Street. Shay was totally overwhelmed with so many toys being showcased

  

Shay was amazed this was made out of Lego!



Thanks to this amazing charity, Shay's wish for him was absolutely perfect. They couldn't of done anything more, Victoria made Shay feel like a true rock star. 



Rock Star Shay! - Day 1

It has been an extremely busy year for all of us. There has been lots of ups as well as downs since January. I am really excited to tell you that Shay was granted a wish through the Starlight Foundation. This was a hectic two day wish starting on Tuesday 27th March. Shay's wish granter Victoria was just as excited as Shay because what he wished for was so unique. Shay was nominated for a wish by his fabulous doctor at GOSH. He was able to choose three wishes and his ultimate wish in Shay's words were "make me a rock star!"

We travelled into London early Tuesday morning where we were booked into the London Plaza hotel. As you can see Shay made himself at home straight away. He was thrilled to be able to see The London Eye, Big Ben and the Houses of Parliament from his bedroom window.

We then hailed a cab to start Shay's wish rolling! Our first port of call was Wungo guitars in Denmark street, where we met Victoria Shay's wish granter from Starlight. Here, Shay was made to feel like a rock star. He was able to play on the guitars and had his very first lesson on an electric guitar. I have to say Mark was fantastic with our little man and Shay enjoyed every minute of them jamming together. Shay was able to play on any guitar in the shop whether it cost £100 or £3000. At the end of his session Shay was given his own electric guitar. I can't put into words how excited Shay was to receive this. We would like to say thank you to Mark and Brian for being so kind and generous to our little man.

After visiting Wunjo Guitars, we had time to get some lunch before making our way to see a real rock band in a studio. We were told we would be jumping in and out of cabs all day. So after lunch Victoria led us on a wild goose chase. We were thinking she was looking for a cab rank but as we rounded the last corner Shay was almost beyond himself and all he could say was "Wow". There waiting for him was a white limousine hummer! This was going to be Shay's ride all day long. He had as much fizzy pop as he could manage and his own disco inside. To give you an idea of the space inside, Shay was able to run up and down without banging his head!

We then made our way to North London where we met an up and coming band called Halfway to New York. These guys were again fab with Shay. Shay even looked the part with his converse shoes and skinny jeans! Shay was given his own private concert for an hour in their rehearsal studio. He even joined in with the shakers to one of their songs. Shay was familiar with this band prior to meeting them and he just adores their music. You could see Shay was totally overwhelmed at seeing a real group play. The lads were brilliant with our little man and at the end of the session they gave him his own electric guitar all signed by the group and a copy of their album which was also signed and is out for release in May.

Thanks once again Sam, Scott, Dan and Martin you have made a little boy very very happy. This was his ultimate highlight of a very special day. A very excited but exhausted Shay was then escorted back to the hummer and the lads stood and waved to him as we were driving away.

Our next stop was back to Soho in London, where Shay was going to see a rock radio station at work. On arriving at Absolute radio, Shay once again was treated like a star. He was given a huge goody bag, a digital radio (which is now in his bedroom tuned to Absolute radio) and his third guitar!! Shay was able to go on a tour at the radio station and even went into one of the studios to see how everything works.

Absolute Radio reserved a table for us at the Hard Rock Cafe in Park Lane, London. They even went the extra mile and arranged for all the children to receive presents, a VIP individual tour of The Vault (14 million pounds of rock memorabilia) and payed our dinner bill. Our waiter at the cafe was amazing and made Shay feel extra special. He even played Shay's favourite tune on the televisions which is The Spin Doctors - Two Princes. The most amazing thing ever, Shay ate a huge hot dog.

After a very exciting first day, we decided to walk back to the hotel. On our way back we had to pass Buckingham Palace and we showed Shay the flag that meant the Queen was in residence. Shay managed to stand outside Buckingham palace for one more show and decided to play the guitar for the Queen. A perfect end to a perfect day.

Update coming soon!

An update is coming very soon! We have been busy with Shay's 5th birthday and also a wish was granted for Shay from the Starlight Foundation.