Not long after my last post Shay was hospitalised for a week. He had been fighting a cough for quite a few weeks and was on numerous antibiotics. I think everything just got too much for his little body and he was unable to fight the virus on his own. I'm not going to say the doctors made it easy for us in the hospital, far from it! Keeping guard over the IV drip to make sure someone doesn't take it down does not really install our confidence in the doctors who we dealt with. Again lack of knowledge, understanding and treating Shay like every other child just fighting an illness is just a few things we had to put up with. The majority of doctors do not realise how things can change very quickly for a child with mitochondrial disease. We ended up putting enormous pressure on the doctors just to get them to phone the mito team at GOSH for advice. I dread the day when something serious might happen and we have to depend on inexperience doctors saving our son's life.
Shay was discharged after a week, but then two days later his stoma site developed a horrible infection which completely knocked him off his feet again. Shay could barely walk with the pain and we felt completely helpless. Shay had a very poorly Christmas period and was bed bound for nearly two weeks. He has had a tough time of it lately and there wasn't many smiles from him.
Today, Shay is back at school and is having a great social life there. We have realised, this time of year Shay is unable to cope with a full week at school. We are going to keep him at home on one of the days so that he can recoup some of his energy.
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.
