Shay was at GOSH today seeing a child physiologist who specialises in children with metabolic diseases. At last someone who understands what we are going through and more importantly what Shay might be feeling. We have waited a very long time for this appointment. She has two other children in her clinic she helps, maybe children is not the right word but TEENAGERS! Both have been diagnosed with Pearson’s/Kearns Sayre syndrome. She spoke more of the boy than the girl but it did come across to me the girl has far more complex health issues than the boy. He is 15 years old, lives an independent life even though he does have sight, hearing problems and growth issues. It has made me deliberate further into the future, which I don’t do and prefer to take each week as it comes.
We discussed Shay in general with the only real problem that needs to be tackled is his eating and growth. She said he is very complex as he is a very social eater and he will be up at a buffet table along with the rest of us loading his plate up, but then he doesn’t eat any of it. Shay gets very territorial over his food if anyone tries to take it away, but still he doesn’t eat. I am at a loss as to how he sees food, how it tastes to him and why he shows this sort of behaviour. Metabolic diseases can make food taste differently to individuals but Shay is too young to be able to tell us.
We have to tread with caution so as not to make an issue out of it and just keep trying to do the best that we can for our little man.
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.
Wednesday 11 August 2010
Friday 6 August 2010
Growing...
Shay at last is in a junior bed and out of his cot. Last night he slept in it for the very first time and insisted on a story before he snuggled down. I thought we would have major issues as he doesn't cope very well with change. The fact that it is a toy story bed and all the paraphernalia that goes with that has helped. He has grown 3 Cm's so far this year, not a major growth spurt but he is growing and the cot was getting to small for him. Shay has gone toy story mad at the moment and we are just waiting until he has fully recovered from his cough to take him to see toy story 3.
Tuesday 3 August 2010
Sometimes I speak to soon..
Shay has been poorly for the first time this year. He has been battling a cold and cough this last week but he is coping extremely well with it. Shay is on his ventolin inhaler every two hours plus antibiotics which seem to be working.
Today Shay enjoyed his first swimming lesson, it was hard handing over control and watching others with him in the pool. It has taken a while to find the right swimming pool but we managed to find a luxury heated one with one to one instruction. Shay smiled and swam widths with his arm bands for 30 minutes this morning, they even had him swimming on his back! The swimming instructor has been fantastic and went out of her way to find out all about Shay's health and what would be best for him before Shay started swimming. Shay's mobility is extremely important to us and we have to do all that we can to maintain and improve his strength and stability for the future, what better way than swimming.
Shay had his Audiology appointment today at GOSH and we are really pleased that his hearing is perfect. He will not need to be seen for another year now.
Today Shay enjoyed his first swimming lesson, it was hard handing over control and watching others with him in the pool. It has taken a while to find the right swimming pool but we managed to find a luxury heated one with one to one instruction. Shay smiled and swam widths with his arm bands for 30 minutes this morning, they even had him swimming on his back! The swimming instructor has been fantastic and went out of her way to find out all about Shay's health and what would be best for him before Shay started swimming. Shay's mobility is extremely important to us and we have to do all that we can to maintain and improve his strength and stability for the future, what better way than swimming.
Shay had his Audiology appointment today at GOSH and we are really pleased that his hearing is perfect. He will not need to be seen for another year now.
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