Purple Canaries

Joyce Gould with Jill Gould

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

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

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

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

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

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

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

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

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


7 comments

  1. Barbara Bradbury

    A very astute and careful comparison that gets at the truth. Similarly, a quite recent article by Bonkovsky gives advice similar to Hensley,(June, 1974 in The Canberra Times, most specifically that porphyrics should wear a medical bracelet), as if it’s the first announcement. While I am blocked on some public sites to access for journal material, I feel what I write is picked up and acted on anonymously. All the truth will out eventually.

  2. Barbara Bradbury

    A very astute and careful comparison that gets at the truth. Similarly, a quite recent article by Bonkovsky gives advice similar to Hensley, (June, 1974 in The Canberra Times, most specifically that porphyrics should wear a medical bracelet), as if it’s the first announcement. While I am blocked on some public sites to access for journal material, I feel what I write is picked up and acted on anonymously. All the truth will out eventually.

    • goulds

      Debunking APF’s appropriations of porphyria “facts” and recommendations can be a full time job. And yes, anonymity is the way this group operates. I urge you to continue “reporting” findings such as this…

  3. goulds

    Stasi. I will be in touch via email. things are very crazy right now. I did find info about Don Carriker at https://www.bizapedia.com/oh/the-american-porphyria-foundation.html. Through that, found Bill Carriker’s obit for 2011 which indicated he suffered with porphyria and donations could be sent to APF in his memory. Thank you for helping to unravel something that a member of my “amateur researcher cadre” has been doing for a few years! Best to you, Joyce Gould

  4. goulds

    I wrote about a Panhematin/Glucose bolus treatment program that was recommended to my daughter’s pediatrician in 2009 by a Swedish-born, bred and medically trained (Umea University) AIP expert. This was AFTER several APF “experts” dismissed her DNA-confirmed diagnosis by Desnick of Mount Sinai.

    It was after that incredibly effective bolus treatment program that I realized that certain chemicals in her school(s) seemed to “leeching” heme from her “hemed up” liver cells. After not having heme for a month or so (after the bolus had been completed and her liver/cells imbued with heme) her body seemed to be heme deficient–and the frightening cycle of inability to focus, headaches, light headed-ness, fainting, seizures and ER visiting became a sickening reality.

    I would extremely wary of Givlaari for a number of reasons which I will share with you privately. From what I’ve learned, “it ain’t all it was cracked up to be.” Of note, is that in many (most?) cases, Panhematin has been used in conjunction with Givlaari! Panhematin can indeed have concerning side effect–perhaps the most distressing is the potential for blood clots. That is a very real possibilty–and has been, as one long-term porphyria suffer can attest. Realize I am not a doctor but when we connect, I can share with you some simple, DIY treatments that have proven beneficial to so many acute porphs–including my daughter–for years. APF will not endorse them. Why? Because they don’t benefit APF et al financially. IF these measures don’t work, then I (again non-physician) would recommend you go with Panhematin and WATCH closely what is going on with Givlaari. After all Panhematin was developed to specifically REPLENISH heme–Givlaari doesn’t. Heme deficiency is one of those topics that apf et al skates all around.

  5. Miranda

    Hello,
    I tried to reach out to you through the contact form to thank you for sharing your experience. I am not a textbook case either and as such it has been a challenging road. but your blog has helped me considerably. I thought I might have some useful resources for you since I do a lot of research into this illness and the genetic components of illness, however I can’t seem to get the message to send there. I will try this instead and if you are interested in communication then please feel free to reach me. Best of luck to you and your daughter and thank you again for being a voice for this disease.

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