re: Anne - CDG(transferrin)

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: Sam's blood was sent to Mayo. I am not sure if that is where we will send the second one to or if they will send it elsewhere. We'll draw it again in a few weeks. if it comes back high again, I'd love to have our metabolic doctor talk with the one you see because it sounds like this is rare. But now if I understood correctly - in your case they think the mito is secondary to the CDG right? If it is confirmed with Sam it would be the opposite - the CDG would be secondary to the mito. We will draw it on my other son as well who has progressive anemia and bleeding issues. He bled for 3 days from a simply CVL placement this past month -not supposed to happen and never has to him before. Does you guys deal with the bleeding and transfusion dependence as well? I guess that is what prompted them to even test the carb. transferin in Sam because it is such a significant problem for him. I think you are also someone dealing with vasculitis aren't you? Sam has vasculitis as well. He has had several strokes - bigger ones when he was a toddler. Smaller episodes since then. We infuse high dose (2g/kg) IVIg every 3-4 weeks and that seems to really help. With Sam you can just see it all over his body when he needs the IVIg -he gets these painful hard nodules virtually everywhere. I will, definitely let you know what the repeat testing shows - is treatment specific for CDG or is it symptomatic treatment only? Annewww.caringbridge.org/wi/zachsam ________________ Message: 12 Date: Sat, 23 Oct 2004 09:37:30 EDT From: wulfluvr1@...Subject: Anne - CDG(transferrin)Anne,you are the first person since our diagnosis of CDG with secondary mito to ever post about the transferrins..we were told several years ago( 2000 ) that we has a disorder of glycosylation with a secondary mitochondrial disorder and one kid with a fatty acid defect also.where did you have the transferring test done?we were tested in San Diego by two docs and then the labs were sent to belgium to the very man that founded the CDG syndromes.I would love to hear more from you as you would be the second one with this diagnosis.Annewww.caringbridge.org/wi/zachsam