Purple Canaries

Joyce Gould with Jill Gould

International Rare Disease Day, 2021

Although Rare Disease Day technically is observed each year on the last day of February each year, this year NIH announced it will hold a virtual Rare Disease Day on Monday, March 1, 2021.

A bit of history

On February 29, 2008, EURORDIS (the European Organisation for Rare Diseases) organized the first Rare Disease day. According to Wikipedia, “the date was chosen because February 29 is a “rare day” and 2008 was the 25th anniversary of the passing of the Orphan Drug Act in the United States.”[1] Nine months later (almost to the day) my daughter was diagnosed with AIP via DNA testing by Robert J. Desnick—a member of the American Porphyria Foundation’s Scientific Advisory Board, NORD’s Porphyrias Consortium and revered (by APF at least)  geneticist at Mount Sinai, NYC.

The next year (2009), US and 23 other countries joined the first global observance of Rare Disease Day.[2] By then, my daughter’s condition had severely deteriorated, necessitating my taking a wide berth around APF and its experts to get medical treatment that essentially saved her life. Since then, a lot has “gone down” that required me (with the help of so many others) to do some “deep diving”—the findings of which made me wonder: when it came to porphyria, just what the hell was really going on in my beloved USA with all of its “medical excellence”?

Back to Rare Disease Day

In occurring once every four years, one might argue that February 29 is more of a mathematical/scientific and perhaps human ego[2]-combined anomaly rather than an actual rarity.  But in the US, without any bona fide, unbiased scientific proof, porphyria is still considered to be a “rare” disease. Yet over its 39 or so years of being in business, APF has intoned that for a disease/illness/disorder to be considered rare in the US, it must affect less than 200,000 [patients]. Hmm. On its website, this foundation lists nine different types of porphyria yet has never offered a breakdown for how that <200,000 patient population is arrived at.

“Rare” and Orphan Drug Prove Robust for Alnylam

Alnylam and its investors, inventors of intellectual property, consultants, recipients of research grants, and the many who received (and still receive) support for accommodations, travel and other expenses did damn well with its orphan drug entry into the realm of porphyria treatment (in this case treatment for acute porphyrias—less than half of the porphryias identified by APF). In fact, according to its fourth Quarter Earnings Call Report, Alnylam “achieved $55.1 million in global Givlaari revenues for the full year 2020.”[4]

Yet my mind is drawn to the multiples of patients across the globe, in order to maintain that medically-coveted “rare disease” diagnosis, aren’t counted. Their lives and families are in ruins. Each’s character is repeatedly degraded by those “in power.” They are left to suffer inhumanely and lose their status as contributing members of society–just so experts and non-experts (pharmaceutical companies) profit by sustaining serious conflicts of interest.


[1] https://en.wikipedia.org/wiki/Rare_Disease_Day

[2] https://ncats.nih.gov/news/events/rdd

[3] https://www.kiro7.com/news/trending/leap-year-2020-what-is-leap-year-how-did-it-start-why-feb-29/377CELP2VNDZDMBM7BEQEPB5E4/

[4] https://www.fool.com/earnings/call-transcripts/2021/02/11/alnylam-pharmaceuticals-inc-alny-q4-2020-earnings

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