Purple Canaries

Joyce Gould with Jill Gould

Day 3, Purple Canary 2021 National Porphyria Awareness Week Commentary

In a perfect world, every acute porphyria patient would be identified, receive adequate and effective treatment as necessary (high-ticket, budget-busting pharmaceutical orphan drugs need not be the only option(s))–and maybe have a chance at retaining his/her position as a contributing member of society, even if it means in a non-traditional sense. But of course, this world is far from perfect.  And from where the ever-expanding number of expert-dismissed patients and their caregivers, family members and friends sit, “perfect” is not the word they would use to describe the rigmarole they and their doctors (if, that is, they are lucky enough to secure physician interest) are subjected to—sometimes for months, sometimes for years, sometimes for decades. The catastrophic VP PATIENT ODYSSEY presented yesterday is testament to that reality.

According to APF’s compilation of historical porphyria facts [website], in 1880 “MacMunn” observed/described reddish-colored urine excreted by a patient “with symptoms of an attack of acute Porphyria”. From that point it appears that reddish-colored urine became the “diagnostic touchstone” for acute porphryias. In fact, it remains the benchmark, evidently without scientific backing (US experts have gone so far as to brazenly dub it the “gold standard”) for diagnosing all of the acute porphryias.

Expert reliance on what Dr. Jan Waldenstrom (aka “Father of AIP”) determined to be “accidental” occurrences has caused considerable consternation for patients who are denied acute porphyria diagnoses. Further, the so-called “gold standard” ultimately resulted in a substantial breach between the two patient groups—the ones whose bodies produced quantifiable (measurable) amounts of “gold standard” imbued urine (preferably during attacks), and those who don’t. While members of the latter group eventually come to understand (some sooner, some later) that they have been dismissed by experts, the former group just doesn’t get it—because they don’t have to.  Why? Because by having excreted the coveted urine, they are welcomed into putative “porphyria clubs” (the foundations, organizations and associations created for advocacy and education) where they are provided support, access to experts and have an opportunity to participate in research. The latter group, lured by “Research is the Key to Your Cure!”1 the ones who would willingly turn their bodies inside out to find out “what is wrong with me” are left to their own devices in every way, shape and form.

Following are some illuminating quotes (followed by Purple Canary commentary); they were made by APF “members” of the “former group” mentioned in the previous paragraph:

“If we don’t advocate for ourselves, who will?” Posed by despairing VP patient/panel participant “S.D.” during the FDA, “The Voice of the Patient: Patient-Focused Drug Development Meeting” sponsored by APF (3/1/2017). This individual was one of five panelists to present clinical manifestations of [acute porphyria], effects on daily life, quality of life and family impact. To that query, Purple Canary offers: “Um…maybe your presence at and participation in this meeting is a clue that APF advocates for you and the others that were invited to attend and/or participate in the meeting?”

“There was that paper that Puy put out in France saying that 1 in, I think, 1,652(sic) [1,675] people in France have the gene for porphyria. And one thing to realize is even if they’re all latent, every single one of those is potentially a porphyria patient because all they need is one dose of sulfonamide antibiotics like I had and their porphyria is woken up.” Statement offered by unidentified participant (actually self-identified as “Mary”) during Alnyam’s 7/24/2018 RNAi Roundtable: Givosiran, in Development for the Treatment of Acute Hepatic Porphyrias.” Purple Canary offers: “This individual is obviously “all in” regarding the “latent” acute porphyria narrative presented by the experts. This misnomer will be discussed later this week as will the subjects of rarity and prevalence. In any event, she missed the point about “patient population”—clearly, Alnylam’s goal is to maintain the lowest population counts in order to sell ultra-expensive Givosiran (now Givlaari) through insurance companies and single payer healthcare countries.” To that end, the Alnylam representative politely thanked “Mary” for her information and quickly changed the subject.

Following are remarks made by patients who’ve been ignored, dismissed, gaslighted and abandoned by experts—and definitely not included in any expert’s research project(s). Their identities will remain anonymous. Note how the tone and despair differs from selection of previous quotes:

“I feel I am hanging on by a thread. It breaks my heart to know how many of us are suffering so greatly and dying slow, painful deaths and can’t get help. It’s criminal.”

“Letting parents suffer the hurt in their children’s eyes will information that could help them is purposely buried is pure evil.” – From a porphyric mother whose son died of unexplained seizures at eleven years of age.

“Most of us have been through the ringer with this disease. Doctors that are incompetent, emergency rooms not treating us and treating you as a drug seeker. When the largest foundation says they going to support you, you jump at the chance! [But they don’t (help).]”

Closing:

“the most demeaning is to be [told] “You’re being a drug seeker because your pain can’t possibly be that bad.” – Commented by APF director D. Lyon during FDA, “The Voice of the Patient: Patient-Focused Drug Development Meeting” sponsored by APF (3/1/2017). Purple Canary: No, D. Lyon….the most demeaning is to be told by a porphyria expert, “you don’t have AIP, VP, HCP or any type of porphyria.” Especially after you’ve been diagnosed (by porphyria expert(s), no less) and/or have a known family history of porphyria. The gaslighting of patients by medical professionals is far too common in this world.

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  1. https://porphyriafoundation.org/

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