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Hi Lana
i totally agree with you - IGS is a autosomal recessive disease (rare) - and these come about precisely (from what i have read) because of isolated communities intermarrying over generations. I am not sure how prevalent these conditions are in Guatemala in comparison to other countries? i doubt any significant research has been done. I am deeply relieved that IGS is so treatable - i know how lucky we are - i have been following your blog and you & your Carmen and family are never far from my thoughts/prayers
the heartbreak is that IGS in guatemala left untreated leads to terrible outcomes (brain damage & death). I am going to see if i can find out if Carmen's birthsiblings/cousins have any symptoms to see if they can be helped
access to basic medical care is something we take for granted and yet it saves lives everyday ....
Mary-Kate
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