Purple Canaries

Joyce Gould with Jill Gould

One reason why my view of the American Porphryia Foundation became tainted

As we all know, knowledge is power and hindsight is 20/20. For the inquiring minds that want to know, following is just one of the many examples depicting why my view of APF et al became tainted.

Those who’ve read Purple Canary know that after Jill’s DNA dx (by Dr. Desnick) I tracked down APF Scientific Advisory Board member Dr. Herbert L. Bonkovsky from his recently vacated position at UConn Health Center. And how a couple of months later my (and Jill’s) subsequent meeting with him in North Carolina enabled me to question him face to face about purplish-red urinary “proof”—the only AIP symptom my 12 year old daughter had not exhibited during the past year+ (though she’d excreted brown urine at one ER visit but my request to send it out for AIP testing was ignored). During our appointment, I’d asked Dr. Bonkovsky something to the effect of, “what if kids aren’t little adults and don’t produce this “proof” you are looking for?” We received no answer to my query. But the “follow up” letter I received from Bonkovsky left no doubt that he was NOT going to agree that Jill’s symptoms were going to be entertained (as doctors are wont to say) as AIP.  So neither APF nor two of its connected “experts” were going to take this any further, huh? I was pissed—but not about to give up—not by a long shot.

At that point I decided to expand my online AIP research tactics to include childhood-onset AIP. At first try, nothing from APF appeared but lo and behold, an article about a Swedish study, “Acute intermittent porphyria in childhood: a population-based study” appeared on my computer screen. I eagerly read it through, noted that 61 children, all with DNA-verified AIP had been studied, and gasped when I reached the article’s conclusion. It stated, “AIP symptoms in children may be vague and of short duration [note: Jill’s symptoms were very specific and definitely not of short duration] and U-ALA and U-PBG levels are often elevated only slightly or not atall [sic]; thus, symptoms and signs may differ from those in adults. Children of AIP gene carriers should beDNA [sic] tested, followed up and carefully instructed on preventive measures to avoid developing manifestAIP [sic].” For goodness sakes, the study had been published FIVE years BEFORE Jill had been diagnosed with AIP! Surely, Desiree Lyon Howe, Dr. Desnick AND Dr. Bonkovsky (all alleged “AIP experts”) must have known about this study and its findings? Why hadn’t any of them mentioned it? Seemed very odd to me that a porphyria patient support organization wouldn’t do anything and everything possible to put patients (and especially parents of children who’d just been diagnosed with AIP) at ease. It took going outside of APF’s information to find the world’s true AIP experts to prove that I wasn’t crazy and that my gut feeling about urinary “proof” not always appearing in children was reality, not just a mother’s wishful thinking.

Unfortunately, between Jill’s ongoing attacks (almost daily and always at school) and/or recovering from one or another of the weird and frightening symptoms, shuttling her to and from numerous doctor and/or testing appointments and ER visits; frequent school meetings regarding her health, Section 504 and potential special ed deliberations, and my own recoveries from multiple health problems not to mention family life in general, at that time I simply was unable to fully investigate (and challenge APF with) what I’d found.

Several examples of APF’s and certain of its SAB members’ communications had already raised concerns with me and among a group of “amateur porph researchers”. But it wasn’t until 2014 that I came across a medical article titled “Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias” that I received what I felt was a divinely-placed proof that APF et al’s communications to the public were askew. The article had been written by a cadre of North Carolina medicos that included APF SAB member Herbert L. Bonkonsky. It had been received May 31, 2014, revised October 14, 2014 and accepted on October 16, 2014 by Metabolites Journal. I settled in to read. When I reached the end of “Section 3.1.1. Epidemiology,” my heart skipped a beat–I knew I’d seen similar information before. The last paragraph of that section read, “In one prospective study using the Swedish registry, children (3-16 years) with established mutations for AIP were observed for 2.5 years. Only 10% developed vague symptoms like abdominal pain, nausea, etc. The symptoms were mild and lasted only for a short duration. It is unclear whether these symptoms arose due to porphyria or to another cause”.

I checked the article’s references, noted that the Swedish porph experts had been duly referenced then reached into my filing cabinet and retrieved my copy of the 2003 Swedish study to compare it with the Metabolites’ article authors’ version of “American intermittent porphyria in childhood”. I quickly noted what had been left out, changed or minimized. Whereas the Swedes clearly identified “Clinical evidence of AIP attacks was found in 10% of child AIP gene carriers”, the U.S. authors described it as, “Only 10% developed vague symptoms like abdominal pain, nausea, etc.” While the Swedes noted, “AIP symptoms in children may be vague and of short duration,” the U.S. authors declared, “The symptoms were mild and only lasted for a short duration.” Further, the U.S. authors closed the section with something not found in the Swedish study with, “It is unclear whether these symptoms arose due to porphyrias or other cause”. However, the U.S. authors omitted the most critical bit of information: “U-ALA and U-PBG levels are often elevated only slightly or not at all; thus, symptoms and signs may differ from those in adults.” It took me a long time to figure out that these three points were in keeping with US experts’ bend on perpetuating various narratives to protect the “rare” disease status of porphyrias by specifically clamping down on the acute porphyrias. They have no qualms about letting people suffer with this these insidious diseases—even children, for God’s sake.

As it turned out, the Metabolites Journal article had been received at about the same time Desnick revoked Jill’s diagnosis. Around that same timeframe, other sometimes veiled, sometimes open jabs by APF et al appeared. From its leader, Desiree LH to Desnick to Alnylam public statements, I noted each one as they came. But the Metabolites article was clearly courtesy of Dr. Herbert L. Bonkovsky and as Desiree has said often enough—right from the source! “Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias” provided incontrovertible proof that an APF SAB member had manipulated information for distribution to the public. And it offered proof positive that at least one APF SAB member had provided incomplete information to the porphyria community. For what purpose, at the time I could not fathom. But thanks to so many patients, caregivers and friends, more proof came my way. The book Purple Canary opened many doors…we were no longer alone.

Remember upon the conduct of each depends the fate of all. – Alexander the Great


PURPLE CANARY: SEEKING CLARITY AMONG THE ACUTE PORPHYRIA CHAOS

(A periodic commentary forum in support of purple canaries the world over.)

December 1st – Remembering the “Father of AIP”

Swedish physician/scientist Dr. Jan Waldenstrom passed away on this date in 1966 at age sixty. Thirty-one years prior (1935) his article “NEUROLOGICAL SYMPTOMS CAUSED BY SOCALLED ACUTE PORPHRYIA” was published in the journal Acta Psychiatrica Scandinavica. It was in this medical commentary that Dr. Waldenstrom provided weighty findings about this insidious metabolic condition and its symptoms and confirmed what has long since been acknowledged–that symptomatic presentations of AIP are highly variable. Importantly, Waldenstrom revealed that “porphryins only play a relatively unimportant part of the development of the acute exacerbations.” He noted, “I have been able to observe a case where porphyrins [of a male sibling group] could be detected neither in urine nor bile during an attack.” Moreover, he noted that two brothers of that particular patient “suffer with typical a.p.” (evidently meaning their bodies’ did produce porphyrins during attack) and concluded, “[t]he diagnosis: porphyria without porphyrins and chromogen…has now been proved.”

Eight years later, his further scientific findings (this time in tandem with Vahlquist) were published in that same journal under the title, “Studies on the excretion of porphobilinogen in patients with socalled acute porphyria.” The scientists wrote, “the amount of porphyrin formed from the porphobilinogen is largely dependent on accidental factors” and “there exist cases with only transitory excretion of the pathological substance (porphobilinogen).” To that end, they continued, “we have observed a complete disappearance of the porphobilinogen from the urine in altogether four cases [out of eleven].” With that, the scientists concluded, “the possibility that the excretion of these substances may be intermittent has to be taken into account.”

Note that the Father of AIP recognized an attack of acute porphyria when he saw one—with or without urinary “proof”. Dr. Waldenstrom observed that this particular patient was in medical distress—not unlike his “typical a.p.” brothers—yet the patient hadn’t excreted porphyrins during said attack.

To this day, over the many long decades, too many porphyria experts throughout the US, EU, Australia, Canada, South America and South Africa among them refuse to recognize that very ill patients (especially those carrying porphyria mutations) do in fact suffer attacks of acute porphyria–yet their bodies do not produce the modern-day experts’ “expected” elixir (porphobilinogen-imbued urine)—either none—or, not “high enough” levels.

Fifty-four years after the “Father of AIP” was laid to rest, one has to wonder what reasoning has been behind successive experts’ flouting this brilliant scientist’s monumental 1935 and 1944 findings about acute porphyria attacks without “porphyrins and chromogen” and “excretion of these substances may be intermittent has to be taken into account” by unscientifically insisting “it can’t be acute porphyria”?

Routinely dismissing patients’ complaints (especially those with acute porphyria gene mutations—Hippocrates allegedly uttered, “If you are not your own doctor, you are a fool) and their physicians/specialists’ observation(s) of recurrent, severe and debilitating neurological pain amounts to 1) unnecessary medical cruelty to the patient(s)–and yes, for some, malpractice claims–and 2) expert arrogance directed at physicians who otherwise adequately and astutely practice “below” the expert hierarchy.

Why, for so many decades, the porphyria expert society has chosen not to give credence to the increasing numbers of complaints from doctors (and specialists) and patients (many with positive genetic reports and/or family histories of porphyria) who, after doing their own due diligence have ruled out “everything but acute porphyria” in the differential diagnosis list is decidedly not, in Purple Canary’s opinion, physician/scientist/expert activity.

 Thankfully, there are some doctors, specialists and experts in the world who are not beholden to the US-pharmaceutically driven narratives and follow the Waldenstrom/Valhquist (and other “early” physician/scientists’) paths–and rely on their own training, experience and acumen. For instance, in reviewing a certain case at the request of a patient who suffered multiple painful, neurological attacks and who also routinely presented with below normal PBGD values, an established, South American porphyria expert team had this to say:

  •  “[T]here are enough and clear evidences: enzymatic and clinical ones, to sustain a medical diagnosis of AIP…”
  • “The critical result for a diagnosis of AIP is the level of enzymatic activity of Hydroxymethylbilane Synthase, whether the patient is presenting an acute crisis or if never one as occurred. Identification of the mutation is an ideal goal[b]ut it is not mandatory. In the presence of typical symptoms, a low enzymatic activity is diagnostic even with absent [urinary biochemical proof].”
  • “his/her enzyme levels are evidence of the acute porphyria crisis which should be treated every time…with hemin,
  • This expert team concluded, “We are willing to contribute to the finding (or confirmation) of the actual molecular diagnosis [for this patient].”

 In 2017, a US porphyria expert stood in front of FDA professionals and a conference room filled with suffering acute porphyria patients who were specifically on hand to share their stories and stated that “the prevalence of the genetic defects [US] is…estimated around 65/100,000. The next year (2018) a French porphyria expert team went on record to report, “The minimal estimated prevalence of AIP in the general population [of France] was 1/1299. Thus, 50 000 subjects would be expected to carry the AIP genetic trait”. Yet experts in these countries and many others dismiss people who suffer attacks but don’t generate the elusive “gold standard” (as Waldenstrom’s and Vahlquist’s patients didn’t). Why? What gives?

 PORPHYRIA EXPERTS ARE ENCOURAGED TO ADVISE THE MEDICAL AND PATIENT COMMUNITY WHERE WALDENSTROM AND VAHLQUISTS 1935/1944 DIAGNOSTIC ACUTE PORPHYRIA FINDINGS STAND GOING INTO IN 2021?


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).


National Porphyria Awareness Week – 4/24

Continued…

The month before givosiran received FDA approval, an investor analyst questioned AHP prevalence numbers, apparently seeking reassurance that market conditions would support financial expectations now and in the future as the potential for 5,000 patients had been mentioned before.  Alnylam’s president responded, “as we get really granular on the patients that have active disease and are diagnosed, there are a total — we believe there are a total of 3,000 in the US and Europe, obviously a larger number in the rest of world. But 3,000 in the US and Europe, of which 1,000 of those 3,000 are those recurrent attack patients that have four attacks or more and then 2,000 of those 3,000 are the less recurrent patients…when we talk about actual diagnosed patients, we’ve always said that 5,000 number.”

Obviously, the numbers stated from all parties since 2013 are ridiculously beneath the <200,000 ODA requirement for orphan disease patient population. Looking back on the slide citing 2,543 AHP patients in APF’s patient registry, how in hell, could there have been only 3,000 patients in the US and Europe four years later? Knowing that there are tens, hundreds and maybe thousands more expert-rejected patients in the US and Europe—and the entire world, these nonsensical numbers are laughable. Yet in spite of pabulum behind it and a drug safety profile [that] “left much to be desired”, Givlaari, the “Drug for Ultra Rare Disease Comes with Ultra High Price Tag” received FDA approval in November 2019. It’s no wonder that APF toes the line. Desiree Lyon’s ardent protectionism in keeping acute porphyria rare was revealed during the APF sponsored March 1, 2017 “Patient Focused Drug Development Meeting with the FDA—Acute Porphyrias.” On the video she is heard interrupting a querying patient trying to make her point, “there are a lot people with porphyria now…and it is still rare because there’s no knowledge….” Lyon jumped in, “No, it’s rare because of the number of patients. It’s not rare because of the knowledge, it’s rare because of the number of patients. The number of patients.”


National Porphyria Awareness Week 2020 – 4/23

The sanctity of porphyria rareness permeates all that APF is about. Yet pinning down just how prevalent the acute porphyrias really are in the US has never been an easy task. APF’s website states, “taken together, all forms of Porphyria afflict fewer than 200,000 people in the United States.” “16 Shocking Porphyria Statistics” (APF-sponsored) claims, “[t]he exact prevalence of porphyria is unknown, but it likely ranges from 1 in 500 to 1 in 50,000 people worldwide.” Alnylam announced in 2013, “[a]pproximately 5,000 patients in the U.S. and Europe suffer AIP attacks annually….” For whatever reason, US porphyria experts routinely quote European (or “worldwide”) prevalence of AIP (only one of the acute porphyrias)—or lump all of the porphyrias together. Desnick delivered a Powerpoint presentation (undated, but likely in 2013) featuring a slide that cited, “Estimated Prevalence of AIP” [for] Sweden (4-5 patients/100,000), Finland (2-3 patients/100,000), UK & Western Europe (2-5 patients/100,000) and US (2-5 patients/100,000)”/American Porphyria Foundation Patient Registry: 9200 Registered Members, ~3,000 Acute Hepatic Patients, of these the following Are Biochemically/Mutation Confirmed: AIP: 1771, HCP: 420, and VP: 352 Total=2,543. Desiree Lyon told Alnylam Roundtable participants in 2015, “we have 8,700 members with over half of them as patients [incl. all types of porphyria].”

Fast forward to 2018. Based on a study undertaken to evaluate the prevalence, penetrance and heritability of AIP, experts from the French reference center for porphyria (CFP) concluded, “[t]he minimal estimated prevalence of AIP in the general population was 1/1299. Thus, 50 000 subjects would be expected to carry the AIP genetic trait in France.” Six months after the French released that information, an unidentified Alnylam Roundtable advised roundtable participant told the group, “[a French paper reported] that 1 in…1,675 people in France have the gene for porphyria. And one thing to realize is that 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.” Not surprisingly, that info tidbit was essentially brushed off.

Fourteen months before Givosiran (aka Givlaari) received FDA approval, an Alnylam executive assured investment analysts, “let me emphasize that porphyria will remain an ultra-rare disease…we’ve been working with the porphyria network….” Ten months later Alnylam executives told investment analysts that givosiran…”would be an attractive ultra-rare orphan disease opportunity with over $500 million in global peak revenue potential.”


National Porphyria Awareness Week 2020 – 4/22

Continued – 4/22

It took nearly three decades for APF to make its next big financially-driven motive-move—welcoming Alnylam Pharmaceuticals into the alliance (~2013). This was no doubt predicated on knowing that more governmental incentives were coming down the pike, namely Obama’s 2015 Precision Medicine Initiative and the 21st Century Cures Act (2016). By then Mount Sinai geneticist/APF SAB member Desnick had abandoned researching and promoting his AIP molecular diagnostic technique (essentially a pre-cursor to genetic testing) in anticipation of genetic testing becoming the leading edge of acute porphyria diagnostics (aka “precision medicine). With the Orphan Drug Act (ODA) of 1983 as its backdrop, the clear aim of the APF/Anlylam partnership was to develop a “game changing” orphan drug  treatment for AIP (actually, as it turned out, for all the rare acute porphyrias) to substantially up the ante for increasing APF et al’s wealth and power. Givlaari® earned marketing approval in November 2019, only four months after a new drug application had been submitted to the FDA. Right from the get go, Alnylam took the wheel in managing worldwide public awareness of the acute porphyrias. By May 2013, the four acute porphyrias went from having been individually identified as rare to the bundling of the four acute types (AIP, ADP, HCP, VP) together under the label of AHP (acute hepatic porphyria) with the entire disease group heralded as “ultra rare.” With very few exceptions the aforementioned audience(s) bought it hook, line and sinker. In demonstrating BLT-flavored APF’s bended knee to Alnylam’s lead, a Purple Light Blog post read, “Porphyria is just one of those ultra rare diseases in the form of Acute Hepatic Porphyria or Cutaneous type of Porphyria.” Henry Waxman, primary sponsor of the ODA, had hit the nail on the head when in 2013 he said, “The [pharmaceutical] industry has taken advantage of the incentives to charge excessive profits and to reap windfalls far in excess of their investments in the drug.” Indeed.


National Porphyria Awareness Week 2020 4/21

Continued…

Why would intelligent, medically trained, oath-swearing physician-scientists (experts no less) allow such medical mockery to happen? One word—motive. And that’s what links APF et al and Hitler’s Big Lie Technique (BLT)—motive. On its face, “Make the lie big, make it simple, keep saying it and eventually they will believe it” was the launching point for both groups’ (albeit hugely different) motives. Hitler’s was to create a European “pure master race.” He openly (though falsely) attributed the BLT quote to the Jews he despised and boldly touted it to push his insane agenda. On the other hand, it appears APF et al adopted a more common motive—financial gain and power. Clearly, AIP rarity was key to that motive. To that end, APF et al established and has maintained a well-veiled, multi-faceted modus operandi geared toward insuring that AIP’s rarity would be upheld. Fronted with benevolent “talking the talk,” the modus operandi entails APF et al walking a very crooked walk built on deceptive narratives. These narratives are maintained to keep audiences e.g. physicians, pharmacists, medical researchers (in fact, the whole of the medical industry outside the porphyria expert “loop”), confirmed patients, prospective patients, media sources, public entities (including government agencies charged with overseeing porphyria) and others largely ignorant of the acute porphryias—and as such, more likely to stay in their own lanes. Pontificated for decades as dogma, many are convinced that these narratives are incontrovertible truths (“keep saying and eventually they will believe it”). They are not.


National Porphyria Awareness Week 2020 – 4/20

Continued from National Porphyria Awareness Week 2020
Tues 4/20/2020

NATIONAL PORPHYRIA AWARENESS WEEK 2020 – 4/21

Why would intelligent, medically trained, oath-swearing physician-scientists (experts no less) allow such medical mockery to happen? One word—motive. And that’s what links APF et al and Hitler’s Big Lie Technique (BLT)—motive. On its face, “Make the lie big, make it simple, keep saying it and eventually they will believe it” was the launching point for both groups’ (albeit hugely different) motives. Hitler’s was to create a European “pure master race.” He openly (though falsely) attributed the BLT quote to the Jews he despised and boldly touted it to push his insane agenda. On the other hand, it appears APF et al’s motive was more common—financial gain and power. Clearly, keeping AIP and all the acute porphyrias rare was key to that motive. To that end, APF et al established and has since maintained a well-veiled, multi-faceted modus operandi geared toward insuring that AIP’s rarity was upheld. Fronted with benevolent “talking the talk,” the modus operandi entails APF et al walking a very crooked walk built on deceptive narratives. These narratives are maintained to keep audiences e.g. physicians, pharmacists, medical researchers (in fact, the whole of the medical industry outside the porphyria expert “loop”), confirmed patients, prospective patients, media sources and public entities (including government agencies charged with overseeing porphyria) largely ignorant of the acute porphryias—and, as such, more likely to stay in their own lanes. Pontificated for decades as dogma, many are convinced that these narratives are incontrovertible truths (“keep saying and eventually they will believe it”). They are not.


NPAW – April 19, 2020

Continued from National Porphyria Awareness Week, April 18, 2020

How these rejected patients’ predicaments compare with the horrific enormity of Hitler’s era of lost souls and destroyed lives may not be readily fathomable but one must remember that individual relativity and contemporary times reign. These people’s lives have been medically, financially, emotionally and socially ruined by greedy, cruel and bullying schemers operating as U.S. porphyria experts who consider them as nothing more than speed bumps. Having been rejected because of something they have no control over, they are cleverly urged by these “experts” to continue seeking “what’s really wrong with you” before being set adrift, left without a diagnosis or treatment to fend for themselves. With medical credibility obliterated most return with broken-spirits to their local environs where it is not unusual for them to be written off by medical practitioners, family, friends, acquaintances and social contacts as attention- or drug-seeking—or more commonly, as mental cases. Few are able to maintain employment. Without a diagnosis or medical support, obtaining social services benefits is virtually impossible. Some end up in psychiatric facilities, others in jail or prison. Forced to endure hellish, mind-bending and body-breaking acute porphyria symptoms and attacks, a great many end up merely subsisting; social isolation becomes their norm.


ACUTE HEPATIC PORPHYRIA

National Porphyria Awareness Week, April 18-15, 2018

While telling me that her acute porphyria diagnosis, granted in her country of origin had just been revoked and the beneficial treatments she’d received there refused by the APF-connected US porphyria expert she’d approached for help, a desperately ill patient blurted out, “what they are doing to us is a porphyria holocaust!” At that, a Hitler quote (“Make the lie big, make it simple, keep saying it and eventually they will believe it”) slammed into my startled brain. It certainly wasn’t the first time I’d heard from an extremely ill patient that an acute porphyria diagnosis had been withheld or revoked by American Porphyria Foundation-connected operatives, but it was the first time I’d heard a holocaust analogy applied to what I and others knew to be a life-ruining problem for far too many people, their families and society as a whole.