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
PART 2: Beyond Purple Canary: How and why I disassociated myself from the American Porphyria Foundation and its collusive Porphryia Consortium–and how I discovered that Jill and I weren’t (and had never been) alone after all.
By the time the city of Boston was in the bus’s rear view mirror, I’d come to the realization that Dr. Desnick never had any intention of talking to me and I suspected that Desiree know it, too. In fact, I was highly skeptical that he’d been in Boston at all, never mind at the Liver Convention. Had I’d thought of it earlier, I would have sought out a member of the meeting planning staff and asked to review the convention’s attendee list. Dr. Tichler’s prickliness at the questions I’d asked during the patient forum and Desiree’s grumbling about “people are mean to me” (on Facebook) heightened my wariness. When I’d spoken to her about Jill’s inability to generate urinary biochemical proof, she simply insisted that we try it again. I’d read that it sometimes took many “tries” before a positive sample was obtained but kept thinking about what Dr. P had said about Jill possibly not generating the biochemical proof until late teens or early adulthood. I knew that PBGD readings were Jill’s AIP barometer and without Panhematin, her PBDG level would decline and she’d be in crisis again. Clearly, Desiree didn’t want to delve into that matter. Her pat response was to “wrap it (the urine sample taken during attack) immediately in foil and get it into the freezer then send it right out to Dr. Anderson for testing” just wasn’t adequate—and seemed to lack sincerity.
With so much looming, I had plenty of time to think during the ride home. The professional editing phase of Purple Canary was winding down and production/marketing was about to heat up. I had to find “new” doctors for Jill asap—a primary care physician and a hematologist—neither of whom was likely to know anything about porphyria. Added to the scenario was Dr. Desnick’s ridiculous diagnostic edict. It was obvious he was not going to support us in any way, shape or form. My mom-despair meter began to rise. It had been months since Jill’s last Panhematin infusion. I wondered what was going on with her PBGD levels and how long it would take before the next heme infusion (if there was next one) would be administered. The head bells that had cautioned me during the past seven plus years of hell began to ring and I just knew this whole Mount Sinai/Desnick-pulled diagnosis fiasco was not going to just blow over. I thought back to email correspondence about Jill’s sad tale of woe I’d had with a member of APF’s board of trustees. He’d relayed his disbelief at Jill’s DNA diagnosis having been changed, “Something about this does not ‘smell right,” he’d said. Then when I’d mentioned that I’d sent an early draft of our book to Desiree and added that I thought the act of my reaching out to her played a part in the “new look” at Jill’s original diagnosis, he’d responded, “I spoke with her and she does not recall getting a manuscript and is frankly surprised about the letter from Mount Sinai as much as you and I.” Obviously, Desiree didn’t remember that she’d responded via email to me about the book. Approximately six months later, Jill’s PCP received the letter from Dr. Desnick that blew Jill’s (and our family’s) world apart. Coincidence? My gut said “doubt it” and I developed serious reservations about the APF executive director, Dr. Desnick and Dr. Tishler trio. As time went by, I realized that a circling of the “porphyria expert” wagon train was underway.
Knowing virtually nothing about Facebook (I’d accessed APF’s page only a handful of times), I called Jill on my cell phone from the bus and asked if she could start a Facebook page to kick off the marketing of our book. She said she would try. When I arrived home, she had established a Purple Canary Facebook page. I signed onto APF’s open Facebook page and applied for access to its closed acute porphyria page. That night Jill became Facebook “friends” with several APF Facebook members, some of whom had openly expressed irritation and/or anger at APF and more specifically, Desiree. Intrigued, I kept watch for a while.
Though Dr. Tishler did suggest a Dr. Lee at Yale as a possibility to see, I ended up making an appointment for Jill to see Dr. Mistry, who according to UConn because Dr. Bonkovsky had relocated to North Carolina, had been designated an APF “Protect the Future” doctor. Dr. Mistry gave me an order for blood work (PBGD whole blood with a note, “please release samples to patient to send to Texas Test Center”) and collected a urine sample from Jill. As usual, she was not in attack when the sample was collected. The local lab would not release the blood sample to me, insisting that it be tested in its own lab. Still believing that APF would help us figure things out, I declined. Dr. Mistry seemed uninterested in pursuing Jill’s case. Things were not looking good.
Within a few weeks, the abdominal, back and leg pain; fever, extreme restlessness, insomnia, anxiety and nausea came in waves—not the most severe of attacks but Desiree had said to collect the sample and do the routine anyway. So I contacted UTMB, advised them that a sample was on its way and for $100, shipped it off. Not surprisingly, as a way of managing AIP symptoms, Jill had furtively begun to use heroin more frequently.
In the meantime, I muddled my way around Facebook and quickly made contact with the only other person I felt knew precisely what I was experiencing—another mother whose daughter had an acute porphyria that had tested positive for DNA but like Jill, did not generate the requisite biochemical “proof” so (also like Jill) was refused acknowledgement and treatment. To compound matters even more, this woman also has another child, a younger brother with acute porphyria but DOES generate the mandatory urinary biochemical proof so was/is afforded treatment. Understandably, this astonishing situation buoyed me immeasurably. Through this connection, I met other individuals with acute porphyrias (AIP, HCP, VP, ALAD questionable) online who did/do not meet the diagnostic benchmarks that the APF and its Porphyria Consortium insist is required for diagnosis.
It wasn’t long before I found closed Facebook forums focused on porphyria and at long last, I felt I was in familiar territory. Jill and I had never really been alone. There were horror stories from very ill people who didn’t fit the diagnostic criteria for acute porphyria in spite of debilitating horrific symptoms; medical neglect and abuse complaints; and from a significant percentage of patients and/or caregivers, extreme loathing for the American Porphyria Foundation due largely to patients and/or their doctors having been dismissed, ignored and even ridiculed by members of this “consortium.” Emboldened by what we now knew, the other mom and I began to challenge APF’s Facebook positioning on various issues. It wasn’t too long before Amanda was blocked from the APF Facebook pages and shortly thereafter from the Australian porphyria support group’s Facebook forum (which idolizes APF leadership). Meanwhile, I’d been cautioned by Purple Canary Facebook followers about “APF cronies all over my page.” While I appreciated the sentiment, I was even more inclined to speak my and Jill’s piece on the forum we’d established to introduce our book. Being more familiar with Facebook than I, Jill had PMd Desiree with a question and felt abruptly shut down by the APF executive director’s reply of something to the effect of “there are more than 7000 rare diseases” and wished her luck in finding whatever illness matched for her. I quickly learned how to PM, too and responded. Much of Desiree’s reply to my response was, I felt, patronizing. She emphasized her “life’s work and ministry of helping patients” and said she thought she was helping by explaining facts about porphyria. Now, I had researched AIP for seven years—going way outside of APF information and had become more convinced than ever that in my (and others’) opinion, the information presented by APF was, at best, incomplete. I knew darn well I was no longer an AIP neophyte. True, I don’t have AIP, or any type of porphyria (thanks be to God). But my daughter does and being a mama bear, I’ve been there for her through every single bad and worse situation that has knocked the kid over since she was eleven years old. I’d written “Purple Canary” which included information I’d found from other sources and I’d communicated with patients and caregivers who knew APF’s dogma was questionable.
I didn’t need a regurgitation of facts from porphyria experts around the world who “collaborate on most everything including treatment and research.” There was, however, one thing that was outside of the “standard” pabulum and that was, “My note here is that Jill had a prevalent polymorphism”—whatever the hell that is. Six months later, Dr. Peter Tishler would deem her AIP gene “just a polymorphism.” Hmm. She pointed us to a recently addendum to the APF web site, “**Diagnostic Testing for the Acute Porphyrias—Clarification of Testing Results**”—clearly a CYA response to Jill’s (and probably a few others’) case.
She closed with “I feel badly for you as you are back at square one.” Wrong. Jill was NOT back to square one. She knew she had the AIP gene; that it had not come from her birth mother; that she suffered horribly with incapacitating, sometimes paralyzing symptoms that were relieved only by an aggressive D10 and Panhematin infusion protocol (not inconsistently intermittent as has been suggested by APF/SAB member Dr. Bonkovsky following the initial, 2008 diagnosis) AND that her PBGD level had been proven to be a barometer for her AIP activity. Her last comment was, for both me and Jill, unforgiveable, “We have several patients in the same situation with DNA but no attacks.” She had crossed the line.
I found a “new” primary care physician (PCP) for Jill—kind, but clearly not knowledgeable about AIP—nor did he appear interested in learning anything about it. He referred us to a hematologist who was young and a bit brash but who listened carefully about what had happened since June, 2014. It was now approaching June, 2015—a full year of Panhematin being withheld from Jill’s AIP. The hematologist acknowledged Jill’s growing addiction (“gotta get help for that”) and asked if we would be willing to see an expert at Dana-Farber Cancer Institute in Boston about the AIP. Without hesitation, I said of course. That expert, to whom Dana-Faber turned for consultation, was none other than Dr. Peter Tishler. I told the hematologist that I’d developed reservations about the APF and its scientific advisory board, of which Dr. Tishler was a member but would be willing to follow through and see what may come of it. In the meantime, I begged him to order a PBGD test to determine what Jill’s level was and cautioned about the potential for impending attacks. The PBGD level came back at 6.5 (diminished) and my anxiety escalated.
To be continued…
I received my copy of “Difficult Patient” from Australia–$22.29 no shipping—honest! I immediately began reading, my yellow highlighter at the ready. I also grabbed some sticky pads to mark pages for quick reference. I am not one prone to weeping, but have to confess that within a short while, my face was unexpectedly wet with tears. They just slid out. While writing Purple Canary was cathartic to a point, I cried reading Difficult Patient because it was filled with similar memories of what Jill went (and still goes) through. I cried because I was reminded that there is so little joy but much pain and desperation in “porph-land.” And I cried because there are so many parallels between Purple Canary (child-onset AIP) and Difficult Patient (young adult-onset/adult HCP) and that the damn so-called experts the world over continue to circle the wagons and shoot at suffering atypical presentation porph patients who seek validation, vindication and redemption. While Sue Currie was subjected to horrific abuse by her own body and was thought (as so many porphs are) to be faking, drug seeking, mentally ill and /or manipulative, I cried with a bit of envy because her HCP presentation was “textbook” and she ultimately found a “maverick” doctor who championed her cause. But the tears also galvanized me—like a tenacious weed, I will fight for my daughter and the many, many atypical acute porph presenters like her that I’ve met since Purple Canary went into production whose cries for help are ignored, dismissed and denied assistance.
Please note: I am not a doctor, not a scientist, have no formal medical training (other than being a “Mom Doctor”). But I have observed and researched AIP in-depth since 2008. My daughter’s life depended on my doing that–if I’d have listened to the “experts,” I have no doubt she’d have been in her grave long ago. How do I know? A mother KNOWS her child(ren).
I have just learned that another woman with “atypical acute porphyria presentation” has received her first ever hemin treatment and so far, so good. The poor woman was nearly on her deathbed, having suffered since early childhood and like so many others, was repeatedly dismissed, ignored and marginalized by porphyria experts and therefore, the medical community that relies on these experts. Of course, I wish her only the best and advise her to and her doctors to allow her body to be the barometer to indicate ongoing and/or future hemin treatments. She deserves continued validation regarding her body and life.
That leads me to the fact that as far as I know, my own personal Purple Canary (my daughter Jill) was the first American with “atypical acute porphyria (AIP) presentation” to have received hemin (as in Panhematin) treatments (beginning at age 12)–for 5-1/2 years whereupon in 2013 or 2014, Dr. Robert J. Desnick of Mount Sinai was somehow inspired to “revisit” the 2008 DNA established diagnosis and “revised” her DNA diagnosis to “No Mutation Detected.” This after he’d spent an entire letter telling us the mutation she does have had been “reclassified.” Hmmm. How this guy can sleep at night is beyond me.
These two young women each suffered horribly for years. These and other cases have life- (indeed WORLD-) changing implications. Along with a trusted cadre of like-minded allies, I continue to work toward acute porphyria equality. Lives are at stake. Tune in to www.purplecanaries.com. Jill has been waylaid since Purple Canary’s release causing interruptions but my spirit has not wilted.
Not flesh of my flesh nor bone of my bone
but still miraculously my own.
Never forget for a single minute
you didn’t grow under my heart but in it.
Happy 21st Birthday, Jill.
You’ve been through hell and back. I will never stop pursuing the selfish, evil ones who pushed you back into hell. I know that God is with you and your purpose on this plain is so much greater than theirs. He will wreak vengeance upon them—and you will see it, wherever you may be.
I’ll love you forever, I’ll like you for always.
As long as I’m living, my baby you’ll be. [Robert Munsch]
I’ll love you forever, I’ll like you for always.
As long as I’m living, your mama I’ll be.
PART 1: Beyond Purple Canary: How and why I disassociated myself from the American Porphyria Foundation and its collusive Porphryia Consortium
If you’ve read Purple Canary, you’ll remember that I first learned of the American Porphyria Foundation’s (APF) existence in 2008 when I’d turned to the Internet for information about a rare disease the pediatric neurologist we’d consulted had mentioned and ordered blood work for. Being American, I of course was immediately interested in APF listings, however I was not impressed when nothing about pediatric cases of AIP could be found and felt other sources were more complete with regard to symptoms, treatment and long-term prognoses. After much research, I ultimately settled on the acute porphyria category as being almost like (with the exception of purplish urine excretion, coma and death) to Jill’s bizarre symptoms. And because her symptoms were worsening, I decided to seek consultation with the nearest APF scientific advisory board (SAB) member to our mid-central Connecticut location, Dr. Bonkovsky. However, when I contacted the UConn Medical Center, I was told he was no longer in their employ. I persevered and to make a very long story short, within a few months, I’d made connections with APF SAB members Doctors Anderson, Bonkovsky (who, as it turned out, had relocated to North Carolina) and Desnick; arranged to have Jill’s DNA tested for all of the acute porphyrias; received confirmation that, indeed, she did have AIP; brought her to Mount Sinai’s Porphyria Center (at their request) for consultation with a group of professionals, flew her to North Carolina for a consultation with Dr. Bonkovsky; obtained APF membership for Jill and eagerly read its executive director’s memoir about her own “journey” with AIP. I prepared and submitted a member story to APF about Jill, thinking that her story would benefit others. For whatever reason, it was not published and with so much going on with Jill’s daily health crises, I didn’t push the issue. Jill and I signed on for periodic APF-sponsored “Conference calls with an expert;” joined fundraising efforts; scrutinized APF newsletters and notices for the most current information about porphyria (with special interest in AIP) and took part in annual “Porphyria Awareness Week” by reaching out to local press contacts. However, it became distressingly apparent to me that APF and its group of experts did not have adequate knowledge of, or experience with, an AIP-affected pediatric population. In fact, they appeared disinterested in the matter. Desperate to help Jill, I joined a couple of online rare disease forums and posted information about her odd case. Both forums provided the breakthroughs I needed. First, the mother of a young adult woman with acute porphyria contacted me and strongly recommended that I contact a Swedish born, bred and medically trained/US transplanted, non-APF pediatric hematologist/AIP specialist who happened to be treating her daughter. I did and we traveled to meet her. This doctor confirmed that Jill’s AIP was active (because of the lack of urinary proof, APF’s Dr. Bonkovsky had been insistent that her AIP was latent) and recommended an aggressive Panhematin/glucose protocol which dramatically improved Jill’s health.
One morning I awoke with the notion that Jill and I should write a book about what she/our family had been experiencing, not only to help raise AIP awareness but to show that, indeed, it can and does present in childhood. To that end, I studied the APF’s collection of member stories and noted that a significant number reported enduring AIP symptoms in childhood. This inspired ne to contact nearly 100 AIP patients from which I confirmed that many (if not most) had suffered significantly in childhood, some with debilitating symptoms which had been routinely minimalized or ignored. In between responding to the societal horrors inflicted on Jill due to the recurring, bizarre symptoms, the book began to take shape. APF’s 1st Quarter, 2011 newsletter announced “Jill Gould and her mother are writing a book about Jill’s experiences with porphyria.” I hoped this meant APF would take more of an interest in childhood-onset AIP. But that turned out to be the last we would see anything about Purple Canary in APF-connected material.
By 2013, I felt our first (though very rough) draft of Purple Canary was ready for beta-readers. I contacted Desiree Lyon Howe to ask if she would be willing to review and comment on it. She agreed so I emailed the rough draft to her; she ultimately emailed her comments back to me. By then, things had been looking pretty good for Jill. In spite of having been knocked down (literally and figuratively) more times than I could count since 2007, she was now mid-sixteen, had been aptly juggling two half-day high school programs (local and regional charter) and a part time job, all the while managing her health with Panhematin /glucose infusions (maintenance and as-needed for attacks). However, by spring, 2014, the poop began to “hit the fan” for the now sixteen year old. First, the hematologist who’d treated her since fourth grade when he’d diagnosed her with von Willebrand disease then stood by her (us) when AIP came calling and agreeably worked with the phenomenal Swedish doctor to manage a successful AIP treatment regimen for Jill resigned his post to take a new position in another state. Shortly thereafter, her beloved Swedish “savior doctor” was similarly offered a position she couldn’t refuse and also changed employers, unfortunately, one that didn’t accept our insurance. On the heels of those losses, the Bard chest port Jill had had since 2008 became problematic; replacement surgery was scheduled. The surgery went well but post-surgery, Jill complained that the pain was “way worse than last time [first surgery].” It began triggering horrific AIP pain. The surgeon suggested maybe the extraordinary pain resulted from the port size differential (from child size to adult size); the change in positioning (her original port had “slipped” (repositioned) inside her chest cavity, likely a result of physical bullying she’d been subjected to in the local school system so the replacement had been moved to a mid-central chest-position), and/or maybe the replacement port had settled on/up/against a “touchy nerve”? We didn’t yet understand the veracity of AIP nerve damage. Whatever the cause, the post-surgical and AIP-related pain would not relent so morphine was liberally administered throughout her hospitalization stay and she was released with a prescription of hydromorphone (significantly stronger than morphine). When the prescription was finished, unbeknownst to our family, Jill began relying on cheap, readily available heroin for relief, supplied by the “boyfriend” who’d begun walking an unsavory line.
The chain of bad luck continued when the psychotherapist she’d had since 12 years old cited family issues and the decision to re-focus on her practice helping at-risk children; a young woman friend whom Jill greatly admired was killed in car crash and the coffee shop where she’d happily ferried coffee and donuts closed down. It was becoming apparent to me that Jill was having difficulty with all that was happening to her. I still was unaware that she’d begun using heroin. But the final straw came in June, 2014 when she was torpedoed by an unexpected and inexplicable, heartlessly sickening action taken by APF scientific advisory board member and director of Mount Sinai Genetic Testing Laboratory, Dr. Robert J. Desnick. Jill’s pediatrician (who had just told Jill, because she was nearly seventeen, she soon would have to change to a PCP who saw adults) called to tell me she’d just received a letter from Dr. Desnick that stated Jill’s 2008 DNA results had been “revisited” (no explanation why) and bottom line, she was “most likely not affected with AIP.” This fiasco is more fully described in “Purple Canary” but what I will say here is 1) NO indisputable, supporting documentation for any of his “findings”; 2) inconsistencies are found between the letter and its “revised report;” 3) he made an irresponsible genetic assumption that is just plain wrong; 4) he hammered home the un-scientifically-proved dogmatic diagnostic criteria of urinary porphobilinogen (PBG) and aminolevulinic acid (ALA) being “important to obtain”…“if the patient or a family member experiences symptoms of an acute porphyric attack, such as abdominal pain, peripheral neuropathy, and/or central nervous system involvement.” Jill is an adoptee (no bio-family members available to observe) and she’d had a hundred (or more) attacks that clearly included CNS involvement, abdominal pain and peripheral neuropathy (AIP symptoms), the bulk of which Panhematin successfully stopped.
Desnick’s letter—and the subsequent conversation Jill’s “new” hematologist had with him had grave consequences. Dr. Boruchuv was swayed more by the porphyria “expert” than her patient’s 5-1/2 year medical record and immediately stopped any and all AIP treatment until Jill produced the extremely high levels of PBG/ALA during a porphyric attack with abdominal pain, peripheral neuropathy, and/or central nervous system involvement. No more Panhematin, no more IV D10, no more morphine. Both doctors, in my opinion, had violated the Hippocratic Oath they’d pledged to. Jill who’d been at the edge of an emotional cliff, fell precipitously off. After years of being marginalized, ridiculed and ignored by peers, medical and educational professionals, she was lost. No more self-worth, no more get-up-and-go. No hope. My stainless-steel backboned former business executive persona took over. Something was up and I knew while it might take me more time than I liked, I would find out what the hell was going on. I telephoned, emailed, faxed and snail-mailed correspondence to Dr. Desnick, asking to speak directly with him. I contacted Dana Doheny, the geneticist who’d tested Jill’s DNA in 2008 and whom we’d met at the Mount Sinai Porphyria Center consultation. My intent to speak with Desnick was ignored. I contacted Desiree Lyon Howe to ask if she knew what the impetus was for this to have happened. She professed not to know anything but said she would do her best to help. I realized Desnick’s letter had come only months after I’d received Desiree’s email comments about Purple Canary. Coincidence? My gut said “I don’t think so.” I contacted a member of the APF board of directors who admitted that “something doesn’t smell right.”
It was about this time that the Liver Convention was to be held in Boston and I’d already decided that this would be the year Jill and I would “give back” by volunteering at the APF booth (Boston is about 2 hrs from where we live). Little did I know, doing so would spark the beginning of the end of the Purple Canary/APF cordial connection. Desiree informed me that she had spoken to Dr. Desnick and said he would be at the convention and was willing to meet me. As luck would have it, Jill had fallen the day before we were to leave and hurt her leg; she wouldn’t make it to Boston. Nonetheless, I arrived early to the booth and was met by Natalia (APF staff member) who told me Dr. Desnick would not be there after all because “he had to catch an early flight out.” I set to work in the booth. By the time I’d left that day, among other things, I’d learned that Facebook was a sore spot with Desiree and made a mental note to check out the APF site more closely. That evening I attended the APF “patient meeting” hosted by Dr. Peter Tishler, an APF SAB member. Alnylam Pharmaceutical professionals were on hand to promote their “new, stops-AIP-attacks-in-their-tracks” medication and were soliciting patients for upcoming clinical trials. I asked a few questions during the meeting, primarily about PBGD and its connection to diagnosing AIP because over the years I’d found a definite connection to Jill’s AIP attacks and PBGD levels. Dr. Tishler appeared somewhat irritated at my persistence in asking questions. I was not bothered, in fact I am something he will never be–the mother of a chronically ill child. As such, her health means a heck of a lot more than his or anyone else’s opinion of me. And since AIP is in question (regardless of what Dr. Desnick came up with), as her mother, I will investigate until I am satisfied with the answers.
Stay tuned for Part 2: Beyond Purple Canary: How and why I disassociated myself with the American Porphyria Foundation and its collusive Porphryia Consortium*
*and how I discovered that Jill and I are were not alone….