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Post by andrea on Apr 14, 2006 17:49:05 GMT -5
Last week we received the result of Davi´s genetic test . It was negative to the mutations A149P and A174D in ALDB gene.
I would like to Know if anyone of your kids are negative too.
Regards,
Andréa
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Post by andrea on Apr 15, 2006 6:22:17 GMT -5
Davi first did the liver biopsy, on his investigation of metabolic disease but they only see the histology, they did not analysis the active of the enzyme - that is the most important!!! In my hometown they do not make this analysis, but there is another city in my country that do it, and the doctor could contact them and send the fragment to the analysis. I was very up set when I discover this...  |
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Chelsea
Full Member
Gillianne
Posts: 119
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Post by Chelsea on Apr 16, 2006 13:08:58 GMT -5
Kristen - That is exactly what our Dr suspects as well, though we are still awaiting our DNA testing. It doesn't much matter though, it's all pretty much the same just different enzymes. I do go back and forth whether we will move forward with the liver biopsy. I just cannot be certain and feel as though I may need a firm diagnosis.
Gillianne spent yet another day in the ER yesterday. Since January that makes 7 days in the hospital and 4 ER visits. On a day to day basis she does great but as soon as she gets a tummy bug and vomits she gets acidodic so quickly. The odd thing is her sugars are always fairly stable, it's just the metabolic acidosis. She doesn't fit the HFI picture 100%, though I know it is different in every person. I just can't help but to wonder if we really have the right diagnosis.
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