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Blaise suffers from Sanfilippo disease it is a rare, life-limiting genetic degenerative disease, affecting only one in 85,000 live births. Children with Sanfilippo are missing a vital enzyme, which is essential in cutting up and disposing of the mucopolysaccharides (chains of sugar) within the body. Therefore the incompletely broken down mucopolysaccharides remain stored in the body causing progressive damage to the brain, joints and organs, the constant build up eventually means that the child is unable to survive. The life expectancy of a child with Sanfilippo is 12-14 years of age. At present there is no cure for this destructive, cruel disease, all attempts to replace the missing enzyme to date have been unsuccessful. But fingers crossed one day it might happen,it may be too late for Blaise by then but it will be in time for others with this terrible disease.
Journal
Monday, February 11, 2008 6:14 AM CST Hi all
sorry its been so long again just never sem to get enough time to pop on and update.
Well whats new? not much really Blaise is still doing really really well apart from a few minor things.
we had our appointment with Ed Wraith a couple of weeks ago and all was fine although i did mention to him Blaise has started with the sleep apnea again which is making him very tired and lethargic during the day,so we are just waiting on an appointment to come through for the ENT clinic to see what thay say,they will possibly want to do a sleep study again but Ed said to save us going into hospital for the night for them to do this he has a machine we can borrow overnight,which will be a big help.
Blaise is also suffering from a cough which he just cant seem to get rid of but this is mainly at night or when he is warm,so we are thinking Asthma maybe?? He has an appointment with the GP this week to see if they can shed any light on the situation,so fingers crossed they will sort it and he can get rid of it or at least help ease it.
The other concern for me is his toe nails lol sounds silly really doesnt it lol,his toe nails have all gone blue but its not because his feet are cold as for a change they are warm so as i write this im waiting for Ed to ring me back to see if this is supposed to be happening or not.
other than all that Blaise is doing good he is off school for a week this week so we are trying to think what to do since the weather is nice for a change.
Oh yes Blaise has a date on valentines day lol with 2 women and one isnt me lol,he is going out for a meal with his aunt and her friend lol well at least he will get a card and is having a romantic meal even if it is with his aunt.
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