Purple Canaries

Joyce Gould with Jill Gould

National Porphyria Awareness Week 2020

Final 4/25

So there it is: “The number of patients” is APF et al’s ticket to the money train.

For those who were lucky enough to have produced APF et al’s “gold standard” at one point or another and were granted an acute porphyria diagnosis, I understand, I really do, why some feel gratitude and loyalty to APF. At the same time, I also know that many of them still suffer miserably with the disorder(s).

Those who have felt the sting of rejection because their bodies didn’t produce APF et al’s “gold standard” have every right to feel betrayed—not by their bodies—but by the nefarious US porphyria “experts” who chose long ago to weaponize urine. Specifically, porphobilinogen-imbued urine. The urine that for decades has been described as unreliable by porphyria experts; the urine that Waldenström described as “accidental,” “transient,” “intermittent.”

By APF et al dismissing the fact that Desiree Lyon’s self-described years of suffering did not produce documented purplish-red colored urine that flowed ten years later (triggered by a dose of Dilantin) into a catheter and deciding to base AIP’s diagnostic gold standard on that later occurrence, they showed (and continued to show) extreme medical neglect and contempt for human life.

In 2017, Sweden’s Dr. Sardh (a Waldenström contemporary colleague) advised Alnylam, “We still have very limited knowledge of the pathophysiology of the disorder…We need better biomarkers for the disease since ALA and PBG probably are just surrogate markers….” EPNET has done a pretty good job at identifying “other biomarkers” but the scientific porph diagnostic needle needs to move from fascination with urine content to enzyme testing as the preferred first-line actual testing. Of course, excretion of PBGs is a good indicator of porphyria’s presence, but the experts must first acknowledge that production of such urinary proof is not a scientific certainty. In-depth, unbiased scientific research must be undertaken in order to get a handle on the pathophysiology of each of the acute porphyrias. Only then may US and European porphyria experts catch up with understanding that for AIP (and likely the other acute porphyrias), “the critical result for the diagnosis of AIP is the level of enzymatic activity, whether the patient is presenting an acute crisis or if never one has occurred. In the presence of typical symptoms, a low enzymatic activity is diagnostic, even with absent U-BP [urinary biochemical proof] (read paragraph above again). Genetic testing has marvelous potential but concerns (suspected and rumored for years) of data manipulation, has significantly heightened.

Conclusion: One of the most alarming concerns to address is pharmaceutical companies’ dominance over virtually every area of acute porphyrias. This was demonstrated in the Disclosure section of the 2019 medical article, “International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias” where more than half of the twenty-four co-authors disclosed conflicts of interest. These included consultant agreements, honorarium payments, inventors of intellectual property, lodging/accommodation, research grants, salary support, stock options, stock ownership and travel. The companies and agencies identified were: Alnylam Pharmaceuticals, Recordati Rare Diseases, Mitsubishi Tanabe Pharma, Moderna Therapeutics, Inc., Gilead Sciences, Inc., Clinuvel Pharmaceuticals, Porphyria Consortium (part of NCATS, RDCRN, NIH, NIDDK).

1 comment

  1. Barbara Bradbury

    Professor Archie Cochrane, father of random controlled trials, (for large populations, originally in the war camps of Europe, and later in the Welsh valleys for people with lung disease ), would undoubtedly turn in his grave at the misuse of his concept. He was himself diagnosed at age 56, with VP and had the whole of his family tested for porphyria, worldwide, via urine and faeces. When first tested he was negative but when the faeces was tested he was described by Professor Claude Rimington as a severe porphyric. This family business, which stresses inheritance is all but ignored by the APF, which leads to further error than that produced by their obstinant test guidelines. These guidelines when transplanted to Australia rule out previously diagnosed people, because of the limited and essentially illogical in/exclusions, which is unscientific.
    When the ten million (Stein and Badminton, 2018) symptomatic porphyrics are tested, the randomised controlled trial may be appropriate, but at present the exclusions make the test groups so small, that no true conclusion can be reached with any scientific degree of confidence. Worse, the selection of subjects is extremely questionable for a true experimental trial.
    As to the disclosures QED.

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