Purple Canaries

Joyce Gould with Jill Gould

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…


Difficult Patient

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.


Two case of “atypical acute porphyria presentation” successfully treated with hemin!

 

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.


Happy 21st Birthday Jill, with love. You are stronger than you even know.

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….


Purple Canary – Author Review

First and foremost, Purple Canary exposes the simple truth that we all fear what we don’t understand. A story with few light moments, Purple Canary is a sobering chronicle about discerning, diagnosing and living with the rare metabolic disorder known as acute intermittent porphyria in a world where the condition is largely unrecognized and therefore, essentially unknown. Tenacious mom Joyce Gould describes months that evolved into years of attempting to seek support and acceptance from the medical arena and educational system for her daughter Jill, who, as a very sick pediatric patient, was unfairly subjected to questionable academic and medical ethics from within those professions. The book has been has been well-received by an important audience—porphyria patients and caregivers, yet has been snubbed by porphyria experts. A Kirkus Review noted, “This book offers a troubling account and its broadest contribution is how it highlights the difficulties that people with unusual problems face in the American public school and health care systems…[it] may be useful for families affected by porphyria and may interest others frustrated by flawed education and medical systems in the United States.” With little improvement having been made in that respect, Gould released a paper, “Fear-ridden, Frustrated, Forgotten and Fed-up, Patients with Atypical Acute Porphyria Presentation Stuck in Urinary Diagnostic Quagmire” because, sadly, the saga continues. Purple Canary is available at https://www.amazon.com/s/ref=nb_sb_noss_2?url=search-alias%3Dstripbooks&field-keywords=Purple+Canary. Requests to receive the paper Fear-ridden, Frustrated, Forgotten and Fed-up: Patients with Atypical Acute Porphyria Presentation Stuck in Urinary Diagnostic Quagmire can be made on this blog or by contacting email goulds221@comcast.net, Joyce Gould on Facebook or Purple Canary on Facebook.Chiol


Hurray! Purple Canary welcomes an acute porphyria cousin from the land down under!

I was recently made aware of a book written by Australian Sue Currie, who was diagnosed with HCP (Hereditary Coproporphyria). The ebook is titled, ““Difficult Patient,” and is available for purchase at https://www.amazon.com.au/Difficult-Patient-Sue-Currie-ebook/dp/B072VW4NG8. The Amazon page says, “Imagine having a life-threatening illness only for doctors to think you were faking it.” My daughter Jill and an as-yet not fully counted number of patients around the globe like her and Sue don’t have to imagine it because they live it every day of their lives. I cannot wait to read Sue’s book and am so excited that acute porphyria cases are being brought closer to the forefront of society. Porphyria experts will no longer be able to hide under their strongly woven basket much longer. Here, here, Sue Currie!


Purple Canary–Author Review

 

First and foremost, Purple Canary exposes the simple truth that we all fear what we don’t understand. A story with few light moments, Purple Canary is a sobering chronicle about discerning, diagnosing and living with the rare metabolic disorder known as acute intermittent porphyria in a world where the condition is largely unrecognized and therefore, unknown. Tenacious mom Joyce Gould describes months that evolved into years of attempting to seek support and acceptance from the medical arena and educational system for her daughter, Jill, who, as a very sick patient was unfairly subjected to questionable academic and medial ethic from within those communities. The book has been has been well-received by an important audience—porphyria patients and caregivers, yet is snubbed by porphyria experts. A Kirkus Review noted, “This book offers a troubling account and its broadest contribution is how it highlights the difficulties that people with unusual problems face in the American public school and health care systems…[it] may be useful for families affected by porphyria and may interest others frustrated by flawed education and medical systems in the United States.” With little improvement having been made in that aspect, Gould released a paper, “Fear-ridden, Frustrated, Forgotten and Fed-up, Patients with Atypical Acute Porphyria Presentation Stuck in Urinary Diagnostic Quagmire” because, sadly, the saga continues. Purple Canary is available at https://www.amazon.com/s/ref=nb_sb_noss_2?url=search-alias%3Dstripbooks&field-keywords=Purple+Canary. Requests to receive the paper Fear-ridden, Frustrated, Forgotten and Fed-up: Patients with Atypical Acute Porphyria Presentation Stuck in Urinary Diagnostic Quagmire can be made on this blog or by contacting email goulds221@comcast.net, Joyce Gould on Facebook or Purple Canary on Facebook.


FEAR-RIDDEN, FRUSTRATED, FORGOTTEN AND FED-UP

FEAR-RIDDEN, FRUSTRATED, FORGOTTEN and FED-UP: Patients with Atypical Acute Porphyria Presentation Stuck in Urinary Diagnostic Quagmire. Caregiver/patient perspective by parent/advocate/author of Purple Canary; ©J. Gould, 1st Quarter, 2017

 

Contents:

Introduction

Uroscopy

US AIP Presentation: Swedish vs. Atypical AIP Presentation

Low or Absent PBGs = No Treatment in US, UK, Australia and other countries

Diagnostic Lag Time: Latent/Asymptomatic AIP? Case 1, Case 2

The AIP Equation: 1) Genetics, 2) Blood, 2) Liver

Acute vs. Chronic Nature of AIP

AIP Urine: Darkened Color

AIP Urine: Biochemicals

Onerous Testing

Childhood AIP

US Statistics/AIP Rarity

Conclusion – featuring illustrations by Lila Meyer and patient quotes (anonymous)

Endnotes

 

Order your free copy by contacting Joyce Gould via Facebook, email goulds221@comcast.net or www.purplecanaries.com. Help turn the tide! Demand “experts’” response!


Expert Denial Continues: Fear-ridden, Frustrated, Forgotten and Fed-up paper released

Hoping to direct worldwide attention to a long-simmering polarization involving acute porphyria presentation, I recently released FEAR-RIDDEN, FRUSTRATED, FORGOTTEN and FED-UP: Patients with Atypical Acute Porphyria Presentation Stuck in Urinary Diagnostic Quagmire [FFFF].Written from a caregiver/patient perspective, the paper provides plenty of thoughts to ponder about the experts’ insistence that excessive urinary PBG excretion during attacks is required in order to be granted a diagnosis of acute porphyria. It addresses the issue of typical versus atypical acute porphyria presentation and in my opinion, every acute porphyric will gain knowledge by reading it. Over the past few weeks, FFFF was emailed to targeted individuals across the US and around the world, often accompanied by a press release featuring illustrations by talented caregiver Lila Meyer. Preliminary results have been promising but more needs to be done. So I am encouraging porphyria patients to print it out for (or forward it via email to) their own medical providers, relatives and anyone else who “just doesn’t get it.” Contact me via Facebook (Joyce Gould) or (Purple Canary), email (goulds221@comcast.net) or blog (www.purplecanaries.com) if you are interested in receiving the FFFF paper or if you’d like me to send it to specific media, medical or other contact you feel should have it.