From the 1958 article “Porphyria in Africa” by A.G. Shaper, section titled “The Urine in Acute Intermittent Porphyria”: “To complicate matters, in a recent survey of 80 cases seen at the Mayo Clinic it was noted that no porphobilinogen was found in nine cases with severe CNS involvement and in six cases with abdominal crisis…It should be emphasized that porphyrin excretions may be intermittent.” Huh. Does this mean Mayo Clinc “forgot” it has this information–or disregards it to this day? I’m aware of several “undiagnosed” AIPers who will find this VERY interesting–and perhaps support their suspicions questionable responses they received from that august entity.
2018 is filled with promise.
While I’ve not been super at keeping New Year’s resolutions in the past (and in fact, stopped making them years ago), I promise this New Year will contain revolutions of sorts. In fact, Purple Canary, The Girl Who Was Allergic to School: The True Story of How School Chemicals Unleashed a “Rare” Illness that Devastated A Young Girl’s Life’s release already started the movement. Please stay with me and Jill because we will very much need your input and cooperation. It’s time for purple canaries to be uncaged.
As this very wearying year comes to an end and I find myself firmly ensconced in the 2017 holiday season, I realized that an inspiring gift had come via the Internet some weeks ago. Just words, it might seem an obscure, small thing to some, but to others, the 88 words meant someone got the message. They appeared in the September 7, 2017 transcript of an Alnylam roundtable session which featured one the foremost AIP experts in the world, Dr. Elian Sadh of Karolinska Institute in Sweden. She stated, “…As for us working in the field, there are several unmet needs and areas for improvement of this field of hepatic porphyrias. We will have very limited knowledge of this pathophysiology of the disorder as well as the natural history. And international collaborations are needed to answer this question. We need better biomarkers for the disease since ALA and PBG probably are just surrogate markers and the specific levels of porphyrin precursors do not correlate to the disease severity nor the risk for the patient to become recurrent.”
Interpretation: 1) “International collaboration are needed to answer this question”—not just Sweden, America, European or groups of other researchers working each in its own vacuum; 2) “surrogate biomarkers” (oh, like decreased PBGD seen in one of the CRIM subtypes of AIP that Jill and I (and Japanese experts) have relied on for years to predict AIP activity?); 3) “specific levels of porphyrin precursors do not correlate to the disease severity” (oh, perhaps because a) it’s a long way and a lot happens from enzyme development to urethra and no one knows exactly what quantity might become lodged in various bodily tissue (maybe most or all, leaving little or nothing to be excreted)? and b) risk for patient to become recurrent (meaning CHRONIC?). FINALLY, an expert is acknowledging that urinary biomarkers may not be the end all to be all in diagnosing AIP.
To be sure, 2018 will be an interesting year. Most of you know that Jill’s AIP diagnosis was revoked in 2014 by the director of Mount Sinai’s Genetic Laboratory. Since turning 18, her life has been pretty horrific. I wrote Purple Canary to tell the world that AIP can and does present in children. It was a brutal childhood, but adult-world porph is even worse. So with Jill’s approval, I applied for and was awarded conservatorship over her health needs. Mama JG is back. With a vengeance.
Please feel free to share a story of porphyria w/addiction….
I know I’m not alone in thinking it highly inappropriate that the apf coalesced around an AIP index case who did not produce holy grail darkened urine “naturally” and then joined forces with a group to set the bar for diagnosing ALL acute porphyrias based on excretion levels of of U-PBG (which, as it turns out, is a “moving bar” because the level to secure AIP diagnosis has increased during the organization’s 35+ year history–as many can attest). A look at the numbers I reported on last week indicates that the majority of acute porph cases produced heightened U-PBG “naturally” during attack; only a handful made it into the “club” based on the administration of unsafe meds that prompted the appearance of the precious purplish urine. Refer to my FFFF paper posted on www.purplecanaries.com blog for more of this “nonsense.”
If there’s one thing that burns my biscuits and prompts me to shut that oven off it is knowing that some entity is being surreptitiously untruthful at another human being’s expense. To that end, my husband Ed and I recently exposed such deceit—by medical professionals no less. While they scramble to try (and I emphasis try) to weasel out of this one, we will proceed appropriately. It’s pretty bad when medical-related entities lie, but then again, I’m not too surprised anymore. After all, been there done that, as many of you know only too well.
Analysis shows majority of “confirmed” acute porphyria patients diagnosed via “natural” excretion of darkened urine.
Hoping to distinguish the method of how “confirmed” acute porphyria diagnoses had determined, I recently analyzed 129 AIP, HCP and VP published cases. The results proved interesting:
- 60% noted they were diagnosed based on urinary biochemical testing following “natural excretion” of darkened urine during attack.
- 5% reported urinary biochemical testing of darkened urine following administration of “unsafe” (and unplanned) medication(s), prompting the diagnosis.
- 4% recounted DNA/blood, urine, or spinal fluid samples resulted in diagnosis.
- 31% did not disclose diagnostic methods. Note: some patients were diagnosed before the advent of biochemical testing.
Excerpt from Purple Canary Prologue, pg. 5:
“You have to attack with the madness of a mother whose child is surrounded by predators,” blogger Jonathan Morrow wrote as he urged marketing professionals to fight for their ideas. His statement galvanized me–and jogged a memory: several years earlier my sister and I had attended a metaphysical fair and came upon a woman reading totem animal cards. I paid her fee and hoped for something along the lines of the feline family but a few card turns later revealed that my totem animal was–a badger. Unimpressed, I pushed the thought to the back of my mind. But Morrow’s blog post inspired me to revisit what I knew about badgers. The description of the animal’s protectiveness of their young sue seemed to fit now that I was a other and my young ‘in was being threatened with a rare disease. As peers and adults harassed and assaulted her with their GOTCHAJILL! and WHACK-A-Jill! exploits, I abandoned my stalwart pre-parenting position of expecting children to fight their own battles..”
Wild Badger Sneaks Into Home, Impersonates Family Cat
“He didn’t seem too happy when I tried to move him,” a woman said of the critter, which ate the cat’s food.
It there was any actual badgering going on, it was likely from the cat.
A bold badger briefly replaced a family’s pet cat after the wild animal reportedly snuck into a home through a cat door last week, ate the feline’s food and took a nap in the cat bed.
An animal rescue officer with the Scottish SPCA was called to the Linlithgow home on Wednesday after the homeowner discovered the wild animal nestled up in the plush bed, the animal welfare group reported on its website.
SPCA Officer Connie O’Neil, who came face-to-face with the cozy creature, said getting the animal to leave took some effort.
“He had gotten in through the cat flap and had eaten all the cat food before going for a sleep on the cat bed,” she recalled in a post on the SSPCA’s website. “He didn’t seem too happy when I tried to move him but I was able to slide the cat bed round and it was then that the badger noticed the back door was open so [he] made a run for it!”
Though the badger may have played the cat’s role to a T, the SPCA advised people to proceed with caution if they spot such animals.
“Like all wild animals badgers can be aggressive when injured or cornered so we would advise not to go near or touch them without giving us a call first,” said Scottish SPCA chief superintendent, Mike Flynn.
Fortunately, he said badgers breaking into homes is “highly unusual.”
My days of accepting APF/Porphyria Consortium’s writings at face value ended in June 2014 when my daughter’s DNA diagnose was “revised” by APF SAB member Robert J. Desnick. Based on a conversation that her (new to the case) treating hematologist had with Dr. Desnick, AIP treatments were discontinued until her body produced urinary biochemical proof (significantly heightened PBG) during attacks. The APF executive director later responded to my devastated daughter with “supportive” statements like, “Sorry you’re back to square one,” and “We have several patients in the same situation with DNA but no attacks.” Her words confirmed what so many patient/caregivers had already experienced and warned me of–“this person only parrots what her board of experts declares; none of them believes (nor will say) that our attacks are porphyria related. I soon figured out that the patients the executive director was referring to were not (or no longer) associated with APF–some by their own choice, others who’d been “dropped” by the organization. APF’s message incongruity became just too much for this business marketing consultant turned mom of a porphyric to ignore. More message inconsistencies recently surfaced. Here’s the “set-up:”
A recent APF Facebook post reply stated: “Testing is very complex yet simple. First line testing for aip, hcp and vp is to test urine for pbg and ala. During an attack these porphyrin precursors will be very high. Porphyrins will also be high.” No inconsistency as statements such as these are made multiple times on APF’s website:
- “If urine ALA, PBG and total porphyrins are normal, it is quite certain that any recent symptom are not due to an acute Porphyria.” 
- “Biochemical testing is the demonstration of increased urinary ALA and PBG, and these values are highest during an acute attack when patients are symptomatic.” 
- “[if] the diagnosis of acute porphyria cannot be confirmed by elevated urine PBG values or DNA testing then it would be concluded that the “attack” is not caused by an acute porphyria” 
- “For AIP – a urine porphobilinogen (PBG) test during an acute attack–the urine PBG level will be very high if the symptoms are caused by an acute porphyria (greater than 5 times the normal value)” [4[
- “If someone has a mutation in an acute porphyria gene and reports symptoms similar to an acute attack, their urine PBG level should be checked. If the urine PBG level is normal then there is likely another cause to this person’s symptoms. Acute attacks are distinguished from other conditions that cause abdominal pan by very high PBG levels.” 
However, as most Purple Canary followers know, heightened excretory biochemical “proof” and the word “attack” are key concerns for those who suffer with atypical presentation of acute hepatic porphyrias and the doctors who try to help them. And that’s where the next inconsistency comes in. APF executive director Desiree Lyon was interviewed by Health Professional Radio’s Neil Howard. The Guest Bio for that interview states, “She [Desiree] suffered her first attack when she was 17.”  Attack? A lightbulb lit in my mind and I pulled my copy of Porphyria, a Lyon’s Share of Trouble from my office bookcase. There it was–something I’d apparently disremembered since reading the book years ago, “I was only seventeen when I suffered my first attack of Porphyria. The attack commenced with mild pain in my lower abdomen and quickly intensified to the unbearable point.”  Mentions of attacks, lack of biochemical proof and porphyria peppered the book:
- “…I was in a precarious state and lived on the precipice of yet another life-threatening attack.” 
- “the results of the test were normal in every category.” 
- “physicians could not find anything wrong on their standard lab tests.” 
- “I was in excellent health by biochemical standards…” 
- “…nothing that could be done for me in light of the lack of biochemical indicators.” 
- “during my college years I [experienced] similar [symptoms but] the physicians could not find anything wrong on their standard lab tests” 
- “…important to note here that I had not been diagnosed with Porphyria,” 
The book goes on to describe how the intermittent nature of porphyria symptoms continued after Desire became a mother and how she’d begun to void “strange looking, dark urine…”  which was merely attributed to her menstrual cycle by doctor and patient. Lab results continued to yield nothing; however EEG results indicated minor seizure activity so the treating physician prescribed Dilantin. Apparently one dose resulted in a full-blown, major attack with hallucinations, respiratory difficulty and worse–but also something miraculous–“the urine bag rapidly filled with what appeared to be dark blood…the purple-red color of port wine similar to blood that has dried on a wound.”  After biochemical tests were completed, Desiree was given the diagnosis of AIP. She noted, “…dilantin had caused my life-threatening attack of Porphyria.” 
My stomach roiled. While I felt sympathy for the seventeen year old Desiree who “started crying uncontrollably, convinced I was going to die from an undiagnosed ailment before I ever experienced life on my own as a “grown up,”  reading it again all these years later, of course Jill was on my mind. Why would Desiree still identify her pre-diagnosis attacks as porphyria related (without biochemical “proof”) and not my daughters–or the uncounted others “with DNA” or familial evidence of acute porphyria? Since the age of eleven, my daughter has lived Desiree’s pre-Dilantin tale over and over again. Since the beginning of seventh grade, she’s suffered full-blown seizure/convulsive episodes (as opposed to “slight” seizure activity or spinning sensations–she’s experienced those as well) and other AIP symptoms (including abdominal pain). Without Dilantin (but exposed to numerous chemicals in school, she’s experienced attacks with hallucinations, respiratory distress (dipping at one point , I kid you not, to SATs in the 30s to which I immediately demanded O2 be administered), crushing chest pain, sensory impairment and paralysis from the waist down among other really terrifying happenings for a 12 year old. Should Dilantin or similar drug had been administered, she likely would not have survived–and I’d still be wondering what had caused her death. But maybe her lab tests would finally have yielded what the experts hold so dear. Like Desiree, Jill has always prided herself on her “sense of independence, responsibility and stability”  and also never doubted herself or that her crises were imaginary. Nevertheless, at only age 12, she’d been branded with the psychiatric diagnosis of conversion disorder (which was abandoned when the 2008 DNA results came in). While Desiree was able to return to her studies “and active life as a high school senior” , the school environment continually triggered Jill’s AIP, earning her so much verbal and physical bullying that she was transferred out of the school district. When she finally ended up in a charter high school for her senior year, at almost the same age as when Desiree started her AIP “journey” began, and looking forward to a fresh start in college, Dr. Desnick torpedoed her world.
Sadly, far too many porphyria patients have been stuck in what I’ll refer to as “Desiree’s pre-Dilantin era.” Some for months, some for years, some for decades. The vast majority (if not all) suffer the mind- and body-boggling physical, neurological and/or psychiatric symptoms (depression is particularly rampant) that acute porphyrias are known to produce. As happened to Desiree, some occasionally void darkened urine (which is sometimes tested but does not meet the established PBG diagnostic criteria). Yet the APF has the gall to say, “We have several patients in the same situation with DNA but not attacks”? There have been too many lives shattered. Too many opportunities lost. Too many people marginalized because their porph pee doesn’t make the grade. There is little joy in this atypical acute porphyria community, but much pain and suffering. Virtually all know (in spite of not being “warned” by experts who disavow their health crises) about unsafe drugs so aren’t likely to allow such meds as Dilantin, Phenobarbital of similar drug to pass their lips–but all live in fear that ER personnel will administer “typical” treatments when/if they are unable to advocate for themselves. In saying that, I wonder how many APF patients with “confirmed” (aka “real”) acute porphyria diagnosis naturally produced heightened biochemical evidence versus how many were generated by an unsafe drug enhancement?
That Desiree still refers to her “first attack” at age 17 as being a porphyria attack contradicts the APF SAB guideline requiring significantly heightened urinary biochemical proof to designate a porphyria attack. As a reminder, in revising Jill’s DNA status, Dr. Desnick wrote, “it would be important to obtain urinary porphobilinogen (PBG) and aminolevulinic acid (ALA) if the patient or family member experiences symptoms of an acute attack, such as abdominal pain, peripheral neuropathy, and/or central nervous system involvement.” . So based on the above information, will Dr. Desnick and the rest of the SAB vote yea or nay on Desiree’s propensity to refer to episodes she suffered for the years prior to achieving the momentous Dilantin-enhanced AIP diagnosis as porphyria attacks?
Another inconsistency appears in the Guest Bio used for Desiree for the Health Professional Radio interview, “In 1982, she founded the American Porphyria Foundation…” . For a time on the “About” section of APF’s Facebook page she was identified as founder of APF, too and I wondered why. According to her book, she and James Young, a friend who had family members with AIP collaborated on establishing and choosing the name for The American Porphyria Foundation. James became APF president , Desiree the executive vice president. So technically they would be considered co-founders, the title she’d used for years. In fact, James V. Young is identified as Chairman of APF’s Board of Trustees  and if I remember correctly, that appears on APF tax forms as well. I’d been told that James Young was deceased (and stated as such in my FFFF paper); I apologize for not doing better research before making that statement as that may not be the case. In any event, my intent is not to split hairs but to give credit where credit is due. Too be sure, Desiree Lyon and James Young were pioneers. While Desiree may not have been the first American diagnosed with AIP, she and her partner made good on their inspiration to establish APF. Yet there are too many patients who languish in health conditions similar to “Desiree’s pre-Dilantin area” to be ignored by this organization. But they are. And it’s just inconceivable to me and so many others why that is allowed to continue.
- www.porphyriafoundation>Testing for Porphyria>First-line testing
- Ibid>Testing for Porphyria>Diagnostic Testing for the Acute Porphyrias – Clarification of Testing Results
- www.porphyriafoundation>Testing for Porphyria>Diagnostic Testing for the Acute Porphyrias – Clarification of Testing Results>The Difference between Active and Latent Porphyria
- https://healthprofessionalradio.com.au/american-porphyria-foundation; 10/6/2017.
- Lyon Howe, Desiree; Porphyria, A Lyon’s Share of Trouble; Digital Datawerks, Inc. 2004 by Howewrite, Inc.; 2.
- Ibid, 8.
- Ibid, 3.
- Ibid, 5.
- Ibid, 10.
- Ibid, 11.
- Ibid, 5.
- Ibid, 9
- Ibid, 13.
- Ibid, 22.
- Ibid, 23.
- Ibid, 3.
- Ibid, 10-11.
- Ibid, 4.
- Desnick, R.J; Letter to Dr. Sharon Pool, June 2014.
- https://healthprofessionalradio.com.au/american-porphyria-foundation; 10/6/2017.
- Lyon Howe Desiree; Porphyria, A Lyon’s Share of Trouble; Digital Datawerks, Inc. 2004 by Howewrite, 215.
- www.porphryriafoundation.com>Board of Trustees
FINAL: Beyond Purple Canary: How and why I disassociated myself from the American Porphyria Foundation and it collusive Porphyria Consortium
At Jill’s hematologist’s request, Dr. Tishler telephoned me to ask why I thought my daughter had AIP. I explained what had been happening for seven years—the symptoms; the hospitalizations; results of the 2008 DNA testing; the favorable response to D10 and Panhematin treatments and specific trigger identification/association with attacks. He did not appear to be impressed and followed up with a letter, the first line of which rankled me, “The gene testing that you had several times for the possibility of porphyria is not diagnostic of porphyria.” Several times? Jill had only one “gene testing”—in 2008. Desiree’s comment, “We have several patients in the same situation with DNA but no attacks,” came immediately to mind and I wondered, “Why is it about information provided to these APF professionals (specifically Desiree and Drs. Bonkovksy, Desnick and now Tishler) that they seemed to not get?” These people consider themselves “professionals;” if they didn’t agree with my thoughts or what I said, why don’t they just tell me what was wrong with my thinking and enlighten me?” Enclosed with his letter were instructions for collecting urine samples and a UTMB Test Request Form. As I had just sent the same form (filled out and with urine samples) to Texas, and Jill’s recent PBGD results had just been received through her hematologist so I filed the forms away but replied with an in-depth letter that included quotes and references from various medical articles that seemed (to me and others) to confirm some of Jill’s AIP activity. I brought up the fact that we’d identified a connection between her AIP activity and PBGD levels and included a copy of her PCP’s handwritten notes establishing the lowest PBGD reading (5.3) that had been recorded when she’d been in respiratory distress along with myriad other AIP symptoms just ten days after the initial PBGD test had been recorded in 2008. I told him Panhematin treatments had been discontinued by Jill’s 2014 hematologist based solely on a telephone conversation she’d had with Dr. Desnick, that withholding Panhematin had been detrimental to Jill’s health and that I desperately feared for my daughter’s life.
I received his reply letter, dated only four days after I’d sent my letter to him. Addressed to “Dr. Joyce Gould,” he said, “My conclusion is that she definitely does NOT have any porphyria,” and referenced his review of “the material that you sent to me very recently and also other clinical and laboratory material.” This confirmed that he was aware of the 5.3 PBGD level yet chose not to acknowledge it. His enclosed review contained information only from Jill’s lab results of 2008, 2009, 2014 and 2015 (which included a PBGD level of 17, likely provided to him by Dr. Bonkovsky from the January, 2009 appointment Jill had had with the North Carolina doctor—results doubtless obtained from a lab other than Mayo Clinic). It was evident Dr. Tishler had used only information provided by APF-connected labs and/or physicians. Jill’s PCP who had written the recorded 5.3 PBGD level and Dr. Perdahl’s porphyria expertise had never been recognized by any APF-connected physicians. Having read on several occasions from members of the closed FB porphyria forums allegations that APF only connects inquiring patients to Porphyria Consortium “experts” (who happen to be APF scientific advisory board members). I realized they were right and wondered why.
Worried about increasing AIP symptoms, Jill called her hematologist to request another PBGD test be conducted. The request was denied. When asked why, the receptionist replied, “he said it’s “too soon.” Something was up. My head bells were pealing like crazy and shivers ran up and down my spine. Jill took the medical refusal stoically, but inside she was far from alright with it. Unbeknownst to our family, in an attempt to manage now ongoing AIP symptoms, her heroin use was escalating.
The closed Facebook porphyria forums were filled with people who told heartbreaking stories of suffering and of being ignored or rebuffed by APF-connected individuals. These porphyrics and caregivers generously shared wisdom born of the acute porphyria pain, agony and loneliness they knew all too well. Many patients had positive or inconclusive DNA reports and/or knowledge of porphyria in their biological family history. A large majority languished in “undiagnosed” and/or “misdiagnosed” illness categories, continually awaiting (yet dreading) the appearance of urinary/fecal excretions containing the Holy Grail (biochemical proof) during life-threatening porphyria attacks.
As I became more comfortable with participants of the closed forums (and they with me), I secured and befriended several additional beta-readers for Purple Canary and through that endeavor, discovered that Desiree had written and was about to release her second book. I certainly had no qualms about that; I reasoned the more information released into society about porphyria, the better. But wondered why, in all the times we’d communicated, she hadn’t mentioned that she’d been writing a sequel to her first book?
Throughout it all, in addition to having been warned that APF “cronies” were “all over” the PC Facebook page, I’d been told by several people about a patient who allegedly had been threatened with legal action by APF. Further, some alleged that APF (the organization is seen as encompassing its scientific advisory board) was known to have “threatened” doctors who treat undiagnosed patients (especially if Panhematin’s involved). I’ve not been able to confirm such accounts happened but do know “undiagnosed” patients who receive treatments for porphyria activity. Some tell of APF personnel contacting them, ostensibly to “keep in touch.” These patients are wary of divulging too much info as they don’t want to take a chance at jeopardizing their health and/or causing potential damage to their doctor’s ability to practice medicine. I realized (too late) that I should have insisted on being part of the telephone conversation in the summer of 2014 between Jill’s hematologist and Dr. Robert J. Desnick and heard for myself what had been said between.
If that wasn’t enough, I’ve been cautioned numerous times about APF’s “deep pockets, connections with pharmaceutical companies” and how it yielded power to try and get FB pages shut down. I ultimately befriended an individual who turned out to be the individual who’d been threatened by APF and I heard from another patient who said she’d been receiving Panhematin treatments for acute porphyria symptoms/attacks but when her doctor quit practicing, she’d contacted APF for a doctor referral. She’d travelled several states away to see this APF-connected doctor who quickly dismissed her diagnosis which had resulted in discontinuation of her porphyria treatments. She was bereft. Others contacted me to describe how they had been the recipient(s) of uncomplimentary commentary from various members of the APF “elite.” I soon found out that various APF members/affiliates were known to infiltrate these non-APF online forums as a means of promoting APF’s agenda. Not surprisingly, several closed forum participants took issue with that approach; most had been drawn to non-APF forums to get a different perspective, liked the experience and stayed.
The clincher came when a former nurse/undiagnosed patient posted a message on closed forum groups that her doctor had told her about cimetidine (OTC acid reducer Tagamet) which had been proven to relieve AIP symptoms. It worked so well that her doctor prescribed it in compounded form and she praised its “life-improving/changing effects” against porphyria, not only for herself but for her children, whose presentations were very much like her own. This patient said she’d been blocked from APF Facebook page(s) for mentioning the use of cimetidine. I was outraged. This individual (who, as it turns out, is in the “undiagnosed” category) had been thrown out of APF’s FB page for offering help??? While researching for Purple Canary, one of the AIPorphyrics I’d contacted had told me about Tagamet—but I foolishly did not pursue it. Now, here it was, a few years later, and I was hearing the same thing from yet another patient who also claimed it worked for her. I tried it on Jill; in spite of the addiction, Tagamet helped but her liver desperately needed heme. The slippery slope of respect I’d had for APF was approaching bottom.
A private message alerted me that Desiree had discussed what “obviously was your daughter’s case” on an open FB forum. I checked it out. Though she had been correct in identifying Dr. Desnick as being the doctor involved, Desiree was not so forthcoming when it came to the process that had led up to what happened. She’d made it quite clear that “the patient’s doctor” had discontinued treatment—but didn’t mention that decision had been based on Desnick’s insistence that in order to be diagnosed with AIP, a patient must generate high urinary biochemical levels during attack. APF’s executive director had not only stepped way over the line, this time she’d thrown down the gauntlet.
By this time I’d discovered that Dr. Desnick was a consultant, stock shareholder, patent holder and had received grant/research support from Alnylam—the pharmaceutical company developing the new “wonder” drug (RNAi, now known as Givosiran) to treat AIP. Based on the information I found, it was apparent that Desnick was conducting research directly related to the RNAi drug being readied for clinical trials to treat AIP. It seemed odd to me that important issues like gene therapy; more complete Panhematin study (dosage and effectiveness among them); more accurate porphyria incidence/prevalence rates for the U.S; a more complete understanding of why every AIPorphyric’s system did not generate biochemical evidence during every attack (notwitstanding asymptomatic high excreters—which in my opinion constitute a true ultra-rare genetic characteristic) and which should have led to the expanding atypical porph presentation dilemma affecting so many patients. After all, isn’t that what experts do—know everything about their subject(s)? That the APF “team” seemed to be putting significant resources into a chemical drug aimed at helping only “card-carrying” APF-card carrying AIP sufferers just didn’t seem right. Through disclosures noted in published medical articles, I discovered that other APF professionals had various connections to pharmaceutical companies but by far, Dr. Desnick had the most (a baker’s dozen of patents held—before the Givosiran patent).
By spring, 2015 Jill had dropped out of college. Now she didn’t only use the heroin to take the place of morphine to soothe AIP pains, she needed it to stop the explosive “dope sickness” episodes associated with full-fledged addiction. Our once vibrant daughter/sister/niece had become just a shadow of herself. Our family was shattered. About that time, an ardent APF acolyte snarkily announced to the Facebook world that Jill’s now ranting, rambling FB postings, once laced with poetry and song writing were the result of a “petulant” drug abuser essentially looking for attention. Nice to read as I sat and waited with dread for the telephone call to say that my daughter hadn’t made it. Parental despair turned to parental disgust at the level adults stooped to such low tactics.
I began to wise up—not only to Facebook but also to the discrepancy between how APF and some of its members see that organization versus how it is viewed by those left undiagnosed/misdiagnosed who are caught in the terrifying porphyria diagnostic and treatment merry-go-round. I abhorred what was played out daily on various Facebook forums (including APF’s): a “hierarchy” of porphyria patients, with those holding card-carrying APF diagnoses at the top all the way down to the “undiagnosed” and/or “misdiagnosed” (but still suffering) patients and came to better understand why APF-loathing themes permeate the closed forums.
I wrote one last letter to Dr. Desnick in Oct 2015 to which Mount Sinai’s “chief medical officer” responded with regurgitation of info contained in the 2014 diagnosis revocation notice and alleged confirmation from Swedish experts that they “are not aware of any biochemically and/genetically documented AIP patients who do not have increased urinary ALA or PBG during an attack.” Apparently all “experts” had forgotten the htttps://ww.ncbi.nlm.nih.gov/pubmed/12839285 article. I’d had enough and filed a complaint about Robert J. Desnick, MD’s conduct with the New York Department of Health.
The acute porphyrias have been studied the world over for generations. Yet it seems to me that information does not flow readily or easily between experts, resulting in a secretive society of sorts when it comes to the porphyrias. The 2007 Japanese study, Long-Term Follow-up of Erythrocyte Porphobilinogen Deaminase Activity in a Patient With Acute Intermittent Porphyria: The Relationship between the Enzyme Activity and Abdominal Pain Attacks and Desiree Lyon Howe’s mocking reply to me (do you mean we should follow the Japanese?) when I brought it up in a Porphyria Sucks forum thread exemplifies that point. And her September 16, 2016 APF FB post cemented the mindset: “APF only posts and publishes what our scientific advisory board of experts says.” In other words, a worldwide wealth of scientifically-proved knowledge and experiences are left unshared by APF.
Even without medical training, I, like anyone else, has opinions—and pretty good intuition. My life-long research predilection allows me to either fortify or abandon those opinions. Not surprisingly, New York Department of Health officials closed the investigation of Dr. Desnick in December 2016 citing “insufficient evidence to being a charge of professional misconduct.”
I decided some time ago that I would not be silenced by APF, its Porphyria Consortium (comprised of select APF scientific advisory members) or its “cronies.” I would meet their subtle (and not so subtle) jabs by providing complete information obtained from the writing of porphyria experts. If such information refutes (or questions) APF-sanctioned information—tough lollipops.
Not only was my daughter’s childhood shattered by AIP and all the negativity that had been heaped on her by members of our porphyria-ignorant society, she was ultimately driven to addiction by the very people who had taken a solemn oath to do no harm and considered themselves “God Fearing.”
This concludes Beyond Purple Canary: How and why I disassociated myself with the American Porphyria Foundation and its collusive Porphryia Consortium.
To the many who languish in undiagnosed acute porphyria hell, denied medical attention because your system hasn’t produced the dogmatic excretory (in the case of AIP, urinary) proof—if you’d like, you are more than welcome to post your story here. APF won’t post it. Purple Canary Advocacy will.
For your information:
- Jill was the first American known to receive Panhematin infusions (2009) without benefit of having generated urinary biochemical proof. Purple Canary [https://www.amazon.com/s/reg=nb_sb_noss_2?url=search-alias%3Dstripbooks&field-keywords=Purple+Canary] tells that story.
- Sarah was the first Australian known to receive Haem Arginate infusions (2017) without benefit of having generated urinary biochemical proof. A “maverick” Australian doctor intervened and overruled that country’s “experts” to save her life.
- The American Porphyria Foundation was established in 1982 For over 35 years, this group of professionals and physician/scientists have denied granting acute porphyria diagnoses unless patients generate biochemical “proof” while in potentially life-threatening attack. This is an incredibly dangerous protocol that puts too many lives in danger.
- I will soon post “Fear-Ridden, Frustrated, Forgotten and Fed-up: Patients with Atypical Acute Porphyria Presentation Stuck in Urinary Diagnostic Quagmire