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