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…

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