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After 16 months of pure hell, my 12 yr old daughter was finally diagnosed with Acute Intermittent Porphyria via genetic testing. As she is adopted, there is little info re biological parent (only minimal info on biomother which states she is 'bipolar'). On your page re Tests/Porphyrins under the heading of Acute Neurologic Porphyrias there is reference to "Neuromuscluar weakness can progress rapidly to paralysis and respiratory failure." and "...respiratory paralysis." Would you be so kind as to provide a source for this information? By October/November of this year, she was hospitalized again and experienced seizures and respiratory distress. The drs thought I was nuts when I demanded that she be given oxygen via face mask to help her through the seizures. Ativan did not revive her the third time, but oxygen always does. In fact, when she was being taken out of school due to yet another "fainting" episode, it occurred to me that she was not, as the EMTs said, hyperventilating, but rather, HYPOventilating. Does anyone know what happens to the oxygen binding at the tissue or cellular levels during AIP attacks? According to American Porphyria Foundation, she is the FIRST child they know of whose actually been confirmed to have AIP. In talking with Dr. Bonkovsky, noted expert on AIP (Carolinas Medical Center) and Desiree Lyon, director, American Porphyria Foundation, respiratory distress is not an AIP symptom. Huh. I'm just a MOM, but I know when my kid can't breath, and isn't faking it!! I'd appreciate any source info you can provide.
The primary reference for the information contained in the Porphyrin test interpretation was an article entitled: The Challenges of Testing for and Diagnosing Porphyrias that was published in Communique; November 2002, ......
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Last Update: 2009-02-14 |
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