Shay has just finished a course of antibiotics as he was showing signs of developing a cough and as a precaution we asked for him to have them. It seems to have done him the world of good as his cough didn't really turn into anything and stayed off his chest. I am finding lately every other person I talk to they know someone of someone who has swine flu! It makes you question are they all really swine flu have the doctors actually sent of samples etc to be tested or are they just guessing as most do. Wrapping Shay up from all this and withdrawing from the world to live in totally seclusion sounds fab but that would be totally selfish for our own reasons and I think our little man would have alot to say about that.
Shay is booked in for a transfusion next week as he has suddenly gone pale and it's obvious now without a blood test that his Hb has dropped yet again. He should really be having one this week but because of his operation to insert the port-a-cath into his chest it's better short-term for Shay to have his Hb levels higher when he has a general anesthetic.
We received so many letters from GOSH today, some of them I found hard to read. We now have an 'Emergency Management of Pearson Syndrome' letter which outlines if Shay deteriorates suddenly guidelines on what to look for and do, meds to give etc. If I could make a wish it would be to never get to see the day when Shay will need emergency treatment and the ABC rule comes into play. Reading these letters just makes you want to hold onto him as tightly as possibly and never let anything happen to him. We have become so protective of him that it is totally stressful.
Shay has so many hospital appointments it's now becoming a way of life for our little man. He is seeing so many specialists over the next couple of weeks it is hard juggling life. Early July he is going to have quite a few investigations when they fit his port-a-cath for those nurses out their here they are;
Lumbar puncture for CSF lactate, protein and folate estimations
Paired blood lactate and pyruvate
White cell coenzyme Q10 level
Plasma amino acid profile
Blood spot acylcarnitine profile
Urinary organic acids
It really is to much to go on, but for the non-nurses out there lots of blood and urine for the most but they will be tested for quite alot of different things
In one of the letters we received it said that Shay's abdominal examination was normal other than a 2cm liver edge??????????????? To my knowledge does this indicate a possible inflammation of the liver/liver disease or can it be something harmless???.
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.
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