FOR IMMEDIATE RELEASE
June 1, 2017
STUCK IN DIAGNOSTIC QUAGMIRE, PATIENTS ROUTINELY ABANDONED BY RARE DISEASE SPECIALISTS ARE DENIED TREATMEMT – Caregivers Claim Situation is Problematic the World Over
PORTLAND, CT, USA – A long-simmering polarization in the acute porphyria community is coming to public light. On one side are patients who suffer with horrific acute porphyria presentations yet are denied a diagnosis because they don’t excrete high levels of a urinary diagnostic component during the severe attacks. After enduring months (sometimes years or even decades) of debilitating attacks and multiple tests that don’t “add up,” they are unceremoniously dumped into “undiagnosed,” “questionable,” “latent” or “asymptomatic” porphyria categories and left to their own devices. On the other side are experts who steadfastly stand by the immutable position that unless and until large quantities of this urinary component are excreted during a potentially life-threatening porphyria attack, a diagnosis of acute porphyria will not be granted.
Illustrator Lila Meyer of Indiana is long-term caregiver of two loved ones who’ve languished in this medical netherworld for years (actually, one has suffered for decades). In a series of drawings she portrayed the frustration that her family has endured for so long:
Illustration courtesy of Lila Meyer
Connecticut caregiver Joyce Gould wrote a sobering chronicle (Purple Canary) about her adopted daughter’s struggles with acute intermittent porphyria (AIP) in a society that is largely ignorant of the rare metabolic disorder and so tends to deride any mention of it. Gould reports that the book has been well received by the porphyria patient community but ignored by the porphyria expert community. After a years-long series of recurrent, agonizing and perplexing interactions with the US porphyria expert community resulted in severe health complications for her daughter, Gould says found closed Facebook porphyria forums where she felt she’d landed in familiar territory. “I was unaware that this controversy had festered for generations before my daughter was diagnosed via DNA testing with (AIP). As I read stories from stricken patients and their caregivers many times over, I knew we weren’t alone. For decades, what amounted to dozens, perhaps hundreds of people had been (and are) tossed aside because their bodies don’t excrete high levels of biochemical markers. There was so much despair, so much pain articulated and to a one, loathing for the experts who are considered porphyria leaders that I began to research the issue of acute-porphyria urinary biochemical excretion more intensely.”
That research resulted in a recently released paper, “Fear-ridden, Frustrated, Forgotten and Fed-up: Patients with Atypical Acute Porphyria Presentation Stuck in Urinary Diagnostic Quagmire.” Gould readily admits to having no medical training or experience but says after receiving and seeing so many inconsistencies in messages and material provided by the experts for years, “my research-orientated, “mom” brain needed to sort things out.” Though the number of “atypical” acute porphyria presentation patients is as-yet unknown, she and other members of closed Facebook porphyria forums (frequented by patients, caregivers and others) estimate that the number is at least in the dozens, perhaps hundreds. “From my humble perspective, the problem lies with the experts’ position of applying Swedish Porphyria (aka acute intermittent porphyria) diagnostic criteria to every acute porphyria case. However, genetically speaking, that should not be the case. I’ve uncovered documentation (articles) from as far back as 1936 and as recent as 2013 that speaks to the presence of atypical acute porphyria presentation. It is well past time to stop ignoring the suffering of these individuals.”
Illustration courtesy of Lila Meyer
** Fear-ridden, Frustrated, Forgotten and Fed-Up: Patients with Atypical Acute Porphyria Presentation Stuck in Urinary Diagnostic Quagmire ©J. Gould, 1st Quarter, 2017 available upon request.