Please note: I am not a doctor, not a scientist, have no formal medical training (other than being a “Mom Doctor”). But I have observed and researched AIP in-depth since 2008. My daughter’s life depended on my doing that–if I’d have listened to the “experts,” I have no doubt she’d have been in her grave long ago. How do I know? A mother KNOWS her child(ren).
I have just learned that another woman with “atypical acute porphyria presentation” has received her first ever hemin treatment and so far, so good. The poor woman was nearly on her deathbed, having suffered since early childhood and like so many others, was repeatedly dismissed, ignored and marginalized by porphyria experts and therefore, the medical community that relies on these experts. Of course, I wish her only the best and advise her to and her doctors to allow her body to be the barometer to indicate ongoing and/or future hemin treatments. She deserves continued validation regarding her body and life.
That leads me to the fact that as far as I know, my own personal Purple Canary (my daughter Jill) was the first American with “atypical acute porphyria (AIP) presentation” to have received hemin (as in Panhematin) treatments (beginning at age 12)–for 5-1/2 years whereupon in 2013 or 2014, Dr. Robert J. Desnick of Mount Sinai was somehow inspired to “revisit” the 2008 DNA established diagnosis and “revised” her DNA diagnosis to “No Mutation Detected.” This after he’d spent an entire letter telling us the mutation she does have had been “reclassified.” Hmmm. How this guy can sleep at night is beyond me.
These two young women each suffered horribly for years. These and other cases have life- (indeed WORLD-) changing implications. Along with a trusted cadre of like-minded allies, I continue to work toward acute porphyria equality. Lives are at stake. Tune in to www.purplecanaries.com. Jill has been waylaid since Purple Canary’s release causing interruptions but my spirit has not wilted.