Since January Shay has been very well. It has been a hard winter for Shay as the cold and his mitochondrial don’t do too well together. He is feeling more and more tired since winter and we can’t wait for the spring to bring some warmer weather for him. The most significant sign of Shay being poorly now is his inability to walk far when we are outside. If Shay is out and about you will always see him in arms or in his pushchair. He can crawl up the stairs (slightly out of breath) but if he stops midway and turns he falls down. Coming down the stairs Shay still cannot master, this is very dangerous for him as he has had a couple of accidents just from the bottom two steps.
He is now having transfusions every 6 weeks instead of the normal 4. His Metabolic doctor in GOSH did say to us that the mitochondrial does seem to be clearing from Shay’s blood but cannot tell us where or when it will affect other parts of Shay’s body. She is really pleased with how Shay is coming on especially in his development. His behaviour is absolutely outstanding for his age and his health. Very soon Shay will be having another ECG and his pancreas checked for signs of failure.
Shay’s sensitivity with his eyes is back and now he will ask for the curtains to be shut in the house. We only have another couple of weeks until he has another round of tests on his eyes at GOSH.
We are pleased to say Shay is now out of nappies. As you all know Pearson’s affects the child’s development and some parents don’t see their children crawling, walking, talking and in some cases are fed by a G-tube. At the beginning of the half-term holidays I told Shay ‘Mummy forgot to buy nappies’ (I had 140 nappies hidden!). As usual Shay again has amazed us, 5 days later he is toileting himself independently on the potty and this is number 1 & 2’s. At night he still has a nappy which he is not happy with and will try and kick his way free when we are getting him dressed for bed.
Shay is having his normal blood tests tomorrow as he has woken up extremely tired and irritable today. It’s very hard now to know without a test whether he needs blood or it’s just the mitochondrial in his body that is making him pale and tired.
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.
hi tis charlotte burwood and nanny we hope shay is doing good and we misss all of you guys ALOT we send all are love and morree i hope you like the dog coat :) fromm charlotte and all family xx and cat (tilly)
ReplyDeleteHiya Charlotte, great to hear from you both. Miss you lots too. Buster's dog coat is fab and fits him perfectly.
ReplyDeleteLots of hugs from all of us
x x x