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Duarte Galactosemia and Developmental/Speech Delays
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Duarte Galactosemia and Developmental/Speech Delays

Hi. I am mother to a five year old G/D girl named Madison. At day 9, the dr. office called me and told me to IMMEDIATELY stop all nursing and milk formula, to go to the health dept., that they were opening a special Sat. clinic just for her, and to report to the outpatient lab at the hospital as soon as they opened on that Monday. Needless to say, I was scared out of my wits. She was dxed with D/G with a level that I can't recall. I know the number is not supposed to ever go down, but I can't help noticing that she has issues that sound alot like CG.  Madison has a speech delay, developmental delays, possibly an autisim spectrum disorder PDD, and vision problems. I can't help but wonder if despite the "experts" saying that they will not have any issues, if all of this is related. Perhaps it's just a coincidence but I am having her levels tested again anyway. I do remember that she was at the 5% levels at one year. Anyone else feel this way or have children with delays?
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My girl is 2 1/2 and has been diagnosed with duarte galactosemia as well. At 1 year she passed the milk challenge, so she has had a restricted diet. She has glasses, hypotonia, and is severely delayed in all areas of development. She can't walk still or talk. I think she has autism as well. The geneticist we saw had her do an MRI, and a DNA type blood test and growth hormone tests as well and all of them came back normal. They didn't mention that they thought that the G/D was the cause of all of this but i saw your post and made me wonder if this is all related. Have you found out anything more with your child?
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