Purple Canaries

Joyce Gould with Jill Gould

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 Most of you know that Jill’s AIP diagnosis was revoked in 2014 by the director of Mount Sinai’s Genetic Laboratory.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.

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