Purple Canaries

Joyce Gould with Jill Gould

We dance round in a ring and suppose, But the Secret sits in the middle and knows. – Robert Frost

To all my porph friends—patients, caregivers, their friends and family members,

I apologize for having fallen off the face of the earth for a while though I tend to do that when the porph devil’s dancing in Jill’s liver and overdoing things again.

Because of that, I’ve been back on the exhausting documentation trail—and once again, making progress for her and others though, yes it is truly frustrating. In response to a FB closed forum participant’s request, I had conducted a patient survey (very delayed) and thought I’d put a pretty good report together when the sh#t hit the fan. Jill’s AIP has led me yet again to more (“new” to me discoveries) and while it’s been intensely trying for me (never mind her—the patient!!! and those medicos who want to believe but can’t because 1) the diagnostic information they are fed is erroneous and 2) as Robert Frost said, “We dance round in a ring and suppose, But the Secret sits in the middle and knows.”

If you haven’t heard yet, there are two stories of APF devotees connected to the Alnylam Pharmaceuticals’ Givosiran clinical trials you should know about. One has AIP (“expert-confirmed”) and excretes mega-U-BP during attacks so was readily accepted into the clinical trials where she by all accounts has been doing so well she was elevated to an “esteemed” position—an Alnylam Pharmaceuticals spokesperson. The other hasn’t been so lucky. She, too was an “expert-confirmed,” (HCP) APF devotee—so devoted, she’d actually come to U.S. to “learn” APF’s methods, such as they are. However, when time came to enter clinical trials, her U-BP didn’t cut the mustard. She was denied access to the Givosiran clinical trials. Sad to say, her condition deteriorated and I’ve heard she is dying. Why? Her U-BP isn’t good enough. So, essentially, her expert-confirmed diagnosis was yanked and she’s left to die. Sickening, no?

I have finished the “porph-psyche” paper, titled “Acute Porphyria is not “all in your head.” It’s in your blood and liver….” I’m very far behind in FB messages but will be posting this latest paper on my book website, www.purplecanaries.com. It is sure to raise Cain once again. Oh well. I will share the piece first with the anonymous closed forum participant who so long ago asked me to conduct a closed forum patient survey and who’s waited so patiently for it to be finished. I received some wonderfully brave input. Kudos to all those who responded with information to this intimidating topic. I live for the day when our collective voice is heard—and the nefarious individuals contributed to the aching bodies and hearts for decades will finally reap what they have sown.

I thank patients, caregivers, (Moms & Friends), God, angels (heavenly and earthly) and saints, the universe for the all the inspiration and help that has come my way. Dr./Atty. Philip Reilly wrote in his book, Orphan: The Quest to Save Children with Rare Genetic Disorders, about “concerned parents…who have become disease experts.” He also quoted Sir Archibald Garrod who said, “the first great advance in treating rare human inborn errors of metabolism began because of the persistence of a heartbroken, but dedicated, mother and the curiosity of a young physician-scientist.” I haven’t as yet come across a ‘physician-scientist’ but fully intend to persist in this situation. There are too many unacknowledged porphyria patient like my daughter, not only in the U.S. but throughout to world allow it to continue. The U.S. sad state of affairs concerning the acute porphyrias is akin to “playing with fire.” I for, one, don’t play with fire—except when it comes to shooting flaming arrows at those who have such blatant disregard for human life.



Porphyria Awareness Week – Tuesday, April 24, 2018

Well, well, well. Seems something has gotten under the skin of some porph ivory tower dwellers and hangers-on. Mama Canary doesn’t kowtow to manipulative gaslighting—and knows what she reads. Methinks this individual and her followers need to review what “she” herself wrote in her 2014 memoir —and what she wrote nine years later. To clear up a few things: I know full well that back in the day, porphyria was unlikely to be a blip on any differential diagnosis list and biochemical testing was not used routinely—until after APF was established (that’s fodder for future post). If I said “she” “had negative test results for ten years before [“she”] was diagnosed,” it would have been in the context of relating to the vast majority of “misdiagnosed” acute porphyria patients’ diagnostic odysseys.

I’ll start with the memoir—as “she” says, straight from the source. “She” is the one who opened her book with the statement, “I was only seventeen when I suffered my first attack of Porphyria.” (pg2) Understandably, “she” had no knowledge of familial porphyria (another upcoming post)at that time. However, many of the undiagnosed/misdiagnosed people do have bio-family members with porphyria and/or DNA confirmation. Yet “she” proceeded to tell, or was complicit in telling, so many who are in the same position she had been in from age 17-27 (or as “she” says now, 18-28) that their attacks aren’t porphyria because their U-BP levels are not high enough during attack. Seriously?? Obviously “she” didn’t excrete U-BP—apparently not until after she’d become a mother and noticed “at times I voided strange looking dark urine” (pg 13). She did not disclose in her book if this “strange colored urine” was ever captured during her many forays to various doctors, or if it happened when she experienced attacks. However, she did note, “nothing could be done for me in light of the lack of biochemical indicators” (pg 11) so I suppose not, because docs/lab would likely have noticed the atypical nature of the urine and investigated it. Bottom line, it is assumed the APF index case had acute porphyria sans urinary biochemical proof (U-BP) for about 10 years.

She can credit “her” “mild seizure activity” (pg 19-20) for her 36+year AIP position. For that’s what lead to “her” ingesting a dose of Dilantin. And that lead to, “Fortuitously, the urine bag rapidly filled with what appeared to be…purple-red…urine. (pg22) Perhaps ‘she” can clarify when it was decided that in order to be diagnosed with porphyria, patients had to excrete excessive amounts of U-BP? And answer the question, did she or did she not have porphyria before she swallowed that Dilantin? According to her book, she learned, after that pre-Dilantin period (via blood tests) that bio-family members also carried the genetic defect, but that too is fodder for yet another post.

It’s going to be a long week of installments. The Purple Canary flock has lots to impart. We ask that you read—and make your own decisions.

Home Genetic Tests May be Riddled with Errors… UPDATE…REQUEST UNDERLYING DATA FOR ALL DNA TEST RESULTS!!!!

On 4/3/2018 Huffpost published an article about home genetic tests titled “Home Genetic Tests May be Riddled with Errors, and Companies Aren’t Keeping Track” written by Anna Almendrala. It’s a great title; really draws attention. But it doesn’t tell the full story of how to find out if a snp is active or not. I emailed Anna and shared this information, thinking she might tell the couple profiled in the article about it. Thanks to my beautiful friend, Ellen Asher’ guidance, I learned the key to finding whether snps/rs are pathogenic or not is to download 23andme’ raw data to a third party DNA sequencing program (I used Livewello; there are others) and select the illness template you are interested in. I selected the Porphyria Panel. That generated a full Porphyria Panel (Jill’s was eleven pages with more than 100 SNPs/rsID numbers for ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS) based on the 23andme raw data. This will provide you with SNPs per gene indicator (i.e. HMBS for AIP) and rsID identifiers. Using the rsID numbers, access ClinVar (https://www.ncbi.nlm.nih.gov/clinvar) and enter the rs#. ClinVar will generate a full report about that particular rs# that even novices can understand. Perhaps the most important category sought is Clinical Significance. Jill’s ClinVar Clinical Significance results ranged from Benign (the most); Likely Benign; Conflicting interpretations of pathogenicity and Pathogenic. Very interesting to say the least.

I was informed by a high ranking, “in the know” genetic scientist/data analyst that not all genetic labs (even the most “reputable” among them, in fact all APF-connected labs) comply with contributing data to ClinVar’s international database. This of course leaves holes in what has become an important though dynamic diagnostic tool with is patently unfair and, in my opinion, completely irresponsible.

Also, since this post was originally made, the issue of patients specifically requesting ALL underlying (aka supporting) documentation (including rs#s) for every DNA test results s/he may have submitted to has come to the forefront. This is important to do no matter how long ago the test was done. One should not feel squeamish about requesting the data. It is yours, and according to HIPPA law, you are entitled to it–within 30 days of request as a matter of fact. Parents can request their minor children’s data. Upon receipt, ClinVar results are there for the taking–at no charge. Simply follow the directions above and you will be able to verify that the provider’s test results match. If they don’t…request a full explanation, in writing.

Remember the entire medical industry is in “hurry-up, I needed it yesterday” mode. Competition among genetic labs

is fierce—and getting even more so. Sniping at competitor’s data is going to continue. Try to find a non-biased geneticist to review the information with you. Somebody recently posted a wonderful phrase on a FB forum: “DNA is a destiny, not a destination.” Love it! Genes set the mood, but gene expression results from a host of endogenous and exogenous factors. When it comes to your body, experience trumps experiments. Do what’s best for YOU.


If anyone wants to learn about real heroes, all one has to do is tune into closed FB porphyria forums. Tossed aside because they haven’t achieved a “real” diagnosis (as Desiree Lyon Howe articulated during the March 1, 2017 FDA/APF meeting—evidentially to her, “real”  means confirmed by APF “experts”), these remarkably brave patients cope with the same challenges (debilitating symptoms but no biochemical proof) Desiree Lyon Howe was freed from at about age 27. That’s when she swallowed a Dilantin tablet (capsule?) prescribed by an unsuspecting doctor that induced a life-threatening attack which produced purple-hued urine and voila—the diagnosis of AIP which ultimately led to the establishment of the APF. One has to wonder how (or if) she would be faring today had that Dilantin never materialized and she had been left ad infinitum with symptoms as participants of these forums are. Excepting, of course, the APF members who are encouraged to “help spread the cause” by bringing these “poor souls” into the APF “light” so troll these closed forums, if not for that purpose, then to report back to the mother ship and/or bully closed forum administrators about “unfair” posts. To the real heroes on this and other closed forums, please know that your life and experiences do matter—and someday (soon, I hope) your voice will matter too. In the meantime, perhaps this article, written by another hero, Ellen Smith who suffers not with porphyria but with Ehlers-Danlos Syndrome and Sarcoidosis that may help sustain and support you through this day. http://nationalpainreport.com/living-my-new-normal-life-with-chronic-pain-that-i-dont-want-defining-me-8835779.html [Special thanks to Barbara Bradbury Wilcox for leading me to the National Pain Report forum.]

A telling story for all patients with atypical acute porphyria presentation.

    • If the illness doesn’t kill you, the medical bills just might.
    • Look elsewhere for answers.
  • For an eye- and mind-opening information (and review of a documented case history) , check out 2018 STILL FEAR-RIDDEN, FRUSTRATED, FORGOTTEN AND FED-UP: Patients with Atypical Acute Porphyria Presentation STILL Stuck in Urinary Diagnostic Quagmire



Validation!! Enzyme assay necessary to confirm AIP diagnosis w/without US expert “Holy Grail” urinary output.

It is Rare Disease Week on Capitol Hill (2/25-3/1/2018) and I have some great news to share. In the midst of writing my 2018 FFFF white paper (this year titled STILL FEAR-RIDDEN, FRUSTRATED, FORGOTTEN AND FED-UP: Atypical Acute Porphyria Patients STILL Stuck in Urinary Diagnostic Quagmire), I was presented with some game-changing information. There is no a doubt that this information will be soundly criticized and challenged by APF et al.

Attempting to get to the truth of Jill’s AIP conundrum, I have communicated with patients, patients, doctors and specialists from around the globe since 2009. I hope you will all read 2018 FFFF in its entirety (www.purplecanaries.com) because it reveals significant information about the current (aka APF/European) acute porphyria diagnostic model. Scrutinizing enzymes is rarely, if ever considered—I know because I’ve tried. However, received a medical opinion about Jill’s case from the IVIC (Venezuela) porphyria expert team and will share its summary (some of which is in all caps—because it’s that important):

“In summary, we believe that there are enough and clear evidences: enzymatic and clinical ones to sustain a medical diagnosis of AIP regardless of the mutation identification failure, which is a known obstacle found in ~40% of populations worldwide and that the symptoms she presents and her enzyme levels are evidences of acute porphyria crises which should be treated every time, if possible with hemarginate or in its defect with hemin…Plasma PB must be performed during any acute crisis and its level should be found above any value encountered in controls if our diagnostic conclusion is right. Enzyme levels should stay abnormally low.”


In other words, people, unless an AIP diagnostic model includes enzyme measurement, it is incomplete, as I and others have been saying for years about US experts’ decisions to ignore the enzymatic component.

“Porphyria in Africa” article written in 1958 confirms Waldenstrom’s 1939 findings.

From the 1958 article “Porphyria in Africa” by A.G. Shaper, section titled “The Urine in Acute Intermittent Porphyria”: “To complicate matters, in a recent survey of 80 cases seen  at the Mayo Clinic it was noted that no porphobilinogen was found in nine cases with severe CNS involvement and in six cases with abdominal crisis…It should be emphasized that porphyrin excretions may be intermittent.”  Huh. Does this mean Mayo Clinc “forgot” it has this information–or disregards it to this day? I’m aware of several “undiagnosed” AIPers who will find this VERY interesting–and perhaps support their suspicions questionable responses they received from that august entity.

Resolutions vs Revolutions….

2018 is filled with promise.


While I’ve not been super at keeping New Year’s resolutions in the past (and in fact, stopped making them years ago), I promise this New Year will contain revolutions of sorts. In fact, Purple Canary, The Girl Who Was Allergic to School: The True Story of How School Chemicals Unleashed a “Rare” Illness that Devastated A Young Girl’s Life’s release already started the movement. Please stay with me and Jill because we will very much need your input and cooperation. It’s time for purple canaries to be uncaged.

Great things can come in small packages.

As this very wearying year comes to an end and I find myself firmly ensconced in the 2017 holiday season, I realized that an inspiring gift had come via the Internet some weeks ago. Just words, it might seem an obscure, small thing to some, but to others, the 88 words meant someone got the message. They appeared in the September 7, 2017 transcript of an Alnylam roundtable session which featured one the foremost AIP experts in the world, Dr. Elian Sadh of Karolinska Institute in Sweden. She stated, “…As for us working in the field, there are several unmet needs and areas for improvement of this field of hepatic porphyrias. We will have very limited knowledge of this pathophysiology of the disorder as well as the natural history. And international collaborations are needed to answer this question. We need better biomarkers for the disease since ALA and PBG probably are just surrogate markers and the specific levels of porphyrin precursors do not correlate to the disease severity nor the risk for the patient to become recurrent.”


Interpretation: 1) “International collaboration are needed to answer this question”—not just Sweden, America, European or groups of other researchers working each in its own vacuum; 2) “surrogate biomarkers” (oh, like decreased PBGD seen in one of the CRIM subtypes of AIP that Jill and I (and Japanese experts) have relied on for years to predict AIP activity?); 3) “specific levels of porphyrin precursors do not correlate to the disease severity” (oh, perhaps because a) it’s a long way and a lot happens from enzyme development to urethra and no one knows exactly what quantity might become lodged in various bodily tissue (maybe most or all, leaving little or nothing to be excreted)? and b) risk for patient to become recurrent (meaning CHRONIC?). FINALLY, an expert is acknowledging that urinary biomarkers may not be the end all to be all in diagnosing AIP.


To be sure, 2018 will be an interesting year. Most of you know that Jill’s AIP diagnosis was revoked in 2014 by the director of Mount Sinai’s Genetic Laboratory. Since turning 18, her life has been pretty horrific. I wrote Purple Canary to tell the world that AIP can and does present in children. It was a brutal childhood, but adult-world porph is even worse. So with Jill’s approval, I applied for and was awarded conservatorship over her health needs. Mama JG is back. With a vengeance.

A Tribute

Sitting on your throne,
royal down to the bone.
Some say you deserve the Nobel Prize–
a mirror reflection of their lies.
You wear a crown with horns
while we wear crowns of thorns.
Too many are still fooled by your disguise:
a perfect shape, perfect size, pretty little face with a nasty alibi.
This was the last piece Jill penned before succumbing to addiction. She has faced AIP since 11, had her world torpedoed at age 16 by Desnick’s revocation of her diagnosis, beat heroin and survived the “Florida Shuffle.” She’s back and in the Purple Canary fold. Seems progress is being made in German philospher Arthur Schoepenhaur’s vision: Truth goes through three stages. First, it is ridiculed. Second it is violently opposed. Finally it is accepted as self-evident.
Heme deficiency is an insidious condition. Why are so many porphs still left to languish?

Please feel free to share a story of porphyria w/addiction….