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….