TO PATIENTS WHO ARE DESPERATELY AWAITING AN ACUTE PORPHYRIA DIAGNOSIS but haven’t “met the metrics” that is, haven’t excreted “required” urinary porphyrins/precursors, please, for your own safety and sanity, DON’T divulge your doctor(s) name and/or location to ANYONE in this or any other FB forum. Unscrupulous people have been floating among these forums for years. They are known to cozy up to desperate patients–usually undiagnosed and/or allegedly “misdiagnosed” patients (that is, those who’ve been diagnosed by physician(s) other than so-called porphyria experts). Be especially wary of forum participants who take an interest in your personal story—particularly if that story includes present use, or planned (hoped for) use of Panhematin or Givlaari treatment(s).These people can be very attentive and may suggest that you or your doctor contact APF directly—might even give you direct phone numbers of Desiree, Kristin or Edwin or ask them to call you on the premise one or the other will “help” you. Undoubtedly, there will be offers to send your doctor a “kit” with their information about porphyria. They may cast aspersions against me and/or others I collaborate with and if that happens, it’s a good clue that it’s time to walk (or run) away.
Friends, this post is not a ploy nor is it a “bashing” party. It is intended to give you a heads up to potentially save you unneeded heartache. My naiveté in providing information to APF in order to get help for my daughter cost her and our family dearly. That’s when I ended up following another mother/caregiver’s lead and joined closed FB porphyria forums. In those forums I learned we were far from alone; the number of people who were casualties of the Foundation seemed unfathomable and was hard to take in. My daughter’s AIP diagnosis had just been revoked by Dr. Robert Desnick, an APF Scientific Advisory Board Member and the Foundation’s preferred provider of genetic testing. He was also the same “expert” that had first diagnosed her in 2008. I soon met patients whose diagnoses had either been revoked like my daughters’ or had been withheld altogether—because their bodies hadn’t produced the putative “gold standard.” But even if it had, that didn’t help some patients, some of whom had bio-family members with a bona fide diagnosis of acute porphyria; they were/are still denied the diagnosis. By the way, years after Desnick revoked my daughter’s diagnosis, he finally disclosed the paper he’d relied on to do that. It had been published in 2000—eight freaking years before her blood had been sent to Mount Sinai for diagnosing. We ended up ordering a 23andMe DNA test for her. It revealed that not only does she have the particular AIP mutation Desnick identified, but she has other AIP mutations with at least one identified as pathogenic—as well as HCP, PCT and other porphyria genes. Funny how none of those mutations appeared on the report of supporting data for her DNA results that Desnick prepared at my HIPAA compliance request. At about the same time, a porphyria team from South America took an interest in my daughter’s case. Based on her medical records and lab results that indicated consistently low PBGD levels, they confirmed her AIP diagnosis. These experts concluded, “The mutation is an ideal goal but it is not mandatory. In the presence of typical symptoms, a low enzymatic activity is diagnostic, even with absent U-BP.” You can’t make this stuff up.
None of you need this type of harassment/abuse on top of all you already deal with. You’ll likely know if/when you fell through that trapdoor because the treatment(s) you’d poured your hopes into receiving will not materialize; your doctor may suddenly become adamant that you don’t have acute porphyria (a “mistake” was made); becomes silent or might even stop seeing you altogether (referring or “transferring” your case to another physician). This has been happening to TOO MANY people. From reports, it’s also been going on in Canada, the UK, South Africa and Australia and other countries (though certain dedicated porphyria experts have not been cowed by “arrogant porphyria experts’” tactics).
To the perps involved, shame on you for acting like the middle school troublemakers that taunted and pummeled my daughter when she was so sick. As adults, you should know better. Participating in the violation of healthcare privacy laws (in US, HIPAA law) can lead to prosecution.
In conclusion, I leave you with a quote “straight from source” as Desiree Lyon APF “Global Director” likes to say. It was uttered by Dr. Robert J. Desnick’s during the 2017 APF-sponsored FDA “Voice of the Patient” meeting. As you read it (or better yet, view the video in its entirety—it’s a treasure trove of enlightening information) refer to the previous paragraph about your doctor’s potential reticence and loss of the diagnosis.
Video Timestamp: [2:57:53] DR. DESNICK: “in America, no doctor wants to have a malpractice suit and sometimes that happens because they [the patient] never got diagnosed…It takes many—sometimes years—before the diagnosis is made and multiple different doctors until you find the one that says…oh! “I saw that patient,” or “I heard about that” or “oh! That urine in that cup is port-wine red—I got the diagnosis!” And that’s how it happens.”
In America, medical fraud is defined as “…a crime that involves misrepresenting information, concealing information, or deceiving a person or entity in order to receive benefits, or to make a financial profit.” Within Desnick’s quote are certain points that cannot be dismissed. Most important is the veiled threat of a “malpractice suit” (in the guise of medical fraud) because the “patient never got diagnosed” (meaning the diagnosis was not made or confirmed by so-called EXPERTS). What Desnick (and APF et al) suavely appears to be implying is that a non-expert physician dared to diagnose acute porphyria—and therefore misrepresented information (by saying that the patient had acute porphyria when the “real” experts (in America) said no it isn’t. Because of APF et al’s arrogant insistence that the (“accidental, intermittent occurrence”–according to Waldenstrom/Vahlquist findings, which have yet to be publically confirmed or refuted) port-wine red urine is the diagnostic [still unscientifically proven] gold standard for acute porphyria—and the patient didn’t produce it. In the end, urine excretion was the common factor in virtually every case that had/has been denied and diagnosis withheld by the experts.