Purple Canaries

Joyce Gould with Jill Gould

Porphyria – If Nothing Else, APF Message Inconsistencies Still Consistent

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.” [1]
  • “Biochemical testing is the demonstration of increased urinary ALA and PBG, and these values are highest during an acute attack when patients are symptomatic.” [2]
  • “[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” [3]
  • “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.” [5]

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.” [6] 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.” [7] 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.” [8]
  • “the results of the test were normal in every category.” [9]
  • “physicians could not find anything wrong on their standard lab tests.” [10]
  • “I was in excellent health by biochemical standards…” [11]
  • “…nothing that could be done for me in light of the lack of biochemical indicators.” [12]
  • “during my college years I [experienced] similar [symptoms but] the physicians could not find anything wrong on their standard lab tests” [13]
  • “…important to note here that I had not been diagnosed with Porphyria,” [14]

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…” [15] 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.” [16] After biochemical tests were completed, Desiree was given the diagnosis of AIP. She noted, “…dilantin had caused my life-threatening attack of Porphyria.” [17]

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,” [18] 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” [19] 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” [20], 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.” [21]. 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…” [22]. 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 [23], 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 [24] 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.

  1. www.porphyriafoundation>Testing for Porphyria>First-line testing
  2. Ibid>Testing for Porphyria>Diagnostic Testing for the Acute Porphyrias – Clarification of Testing Results
  3. Ibid
  4. Ibid
  5. www.porphyriafoundation>Testing for Porphyria>Diagnostic Testing for the Acute Porphyrias – Clarification of Testing Results>The Difference between Active and Latent Porphyria
  6. https://healthprofessionalradio.com.au/american-porphyria-foundation; 10/6/2017.
  7. Lyon Howe, Desiree; Porphyria, A Lyon’s Share of Trouble; Digital Datawerks, Inc. 2004 by Howewrite, Inc.; 2.
  8. Ibid, 8.
  9. Ibid, 3.
  10. Ibid, 5.
  11. Ibid, 10.
  12. Ibid, 11.
  13. Ibid, 5.
  14. Ibid, 9
  15. Ibid, 13.
  16. Ibid, 22.
  17. Ibid, 23.
  18. Ibid, 3.
  19. Ibid, 10-11.
  20. Ibid, 4.
  21. Desnick, R.J; Letter to Dr. Sharon Pool, June 2014.
  22. https://healthprofessionalradio.com.au/american-porphyria-foundation; 10/6/2017.
  23. Lyon Howe Desiree; Porphyria, A Lyon’s Share of Trouble; Digital Datawerks, Inc. 2004 by Howewrite, 215.
  24. www.porphryriafoundation.com>Board of Trustees


  1. Barbara Bradbury

    A very good question about the unsafe drugs and a certain diagnosis. Unfortunately, such knowledge was not out in the open in 1975-6 in Australia, even though the first drug lists had just been published. As a consequence and because his MD on porphyric pigments was being written up, our stalwart and very gifted Dr Bill Hensley, had an article published in the national capital’s Canberra Times, Australia, on the danger of drugs to those with porphyria and the likelihood of 90% of diagnosed porohyrias patients dying from respiratory failure, if the warnings were not heeded.
    An experienced academic literary critic could not have done a better analysis.

    ON the setting up of an educational and porphyric support group, it would be interesting to know what happened to Tammy Evans’ Porphyria Education and Awareness Foundation, which must have been set up prior to the date her book was published, 1979, with its pamphlets, purple ribbons, t shirts and the Trek for Truth walk in Michigan.

    • goulds

      One would think (especially medicos and US litigious proclivity) that the risk of a patient dying of respiratory failure would be enough to get complete and accurate information to targeted audiences. I’ve yet to do more research on Tammy Evan’s efforts to create awareness and knowledge of porphyria. She and Diana Deats-O’Reilly were surely the pioneers here. Likely their efforts were blunted when moneyed APF came into being (the co-founder of which was able to enjoy years of latency, according to her book) while her competitors’ porphyria continued to negatively impact their health?

      • Barbara Bradbury

        Hear, hear.
        There’s an update to Diana’s comprehensive book, which includes 50%/500 gns glucose infusion. This makes 5 and 10% infusions totally inadequate for porphyria. Someone’s mathematics and assumptions are very illogical and must be based on other diseases, not on the uniqueness of the porohyrias

  2. Amanda Ballan

    This is unbelievable proof of the unethical practices of the APF. How can someone who suffered so much be so indifferent to the suffering of others? It also supports the theory that chronic symptoms brought on by menstrual attacks are unlikely to produce biochemical proof, especially in early life. Secondly, the older you get, the more triggers you’ve had, the more the porphyrins have built up in the body, the more likely porphyrins and precursors will be seen.

    • goulds

      Not only that, but I question why this individual was used as the “index case” to format the APF and build careers around. Other cases, particularly that of Diana Deats-O’Reilly (and most, if not all, AIP “members” associated with APF) seemingly resulted in “natural” production of urinary PBG, which doesn’t only happen during life-threatening attacks. So why does this group continue to stand solidly behind this position?

    • Barbara Bradbury

      A very interesting idea, Amanda, the long term build up of porphyrins in the body with age. On this basis I would hypothesise that a “pool” of porphyrins must build up ready for the next trigger or tipping point. This would make sense of chronicity with age and back to back attacks that Lisa Kehrberg talks of.

  3. Mar

    Omg this woman Desire stalked me on facebook trying to give me a diagnosis on facebook or get me off of the porphyria pages. She is absolutely out of her mind. I think she is trying to keep porphyria “rare” because you get more money. I told her I have physicians. She said no “experts” you. Know they are not “experts”. You know where she can put her experts.

    • goulds

      I am sorry that you’ve had this experience. Please know you are not alone and your gut is pointing you in what seems to be the right direction. If you haven’t yet, check out closed porphyria forums for true understanding and NO pressure to follow this person’s agenda!!! I have had many watershed moments since my book was published and I (and my daughter) were targeted by this nefarious gang. I refuse to back down and work with patients and other caregivers (mostly mothers) to expose this sham patient advocacy organization which operates sort of like a cult.

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