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.
About Me
- Shay
- London, United Kingdom
- Welcome to Shay's story and thank you for taking the time to find out how Shay is doing. It is a place to share our hopes, sadness and the happy times that our little man has. Shay in April 2008 was diagnosed with Pearson's Syndrome a Mitochondrial disease with no cure. Pearson syndrome is very rare, less than a hundred cases have been reported worldwide. It characteristically present in early infancy with pallor, failure to thrive, pancytopenia and diarrhoea. Additional manifestations often include progressive external ophthalmoplegia, proximal myopathy with weakness, and neurologic disturbances. Multiple organ involvement is quite variable. Most infants die before age 3, often due to unremitting metabolic acidosis, infection, or liver failure. Those few individuals who can be medically supported through infancy may experience a full recovery of marrow and pancreatic function. These children eventually undergo a transformation from Pearson's syndrome to Kearns-Sayre syndrome with the development of ptosis, incoordination, mental retardation and episodic coma. Life as we use to know it I cannot remember. We have to live in hope that a miracle will happen for our son.
Thursday 14 August 2014
Friday 11 July 2014
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.
Sunday 18 May 2014
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.
Sunday 26 January 2014
Shay meets 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
Saturday 25 January 2014
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
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
Subscribe to:
Posts (Atom)