My Definition of Cystinosis By Ana Francisco

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I first heard of cystinosis in 2016. It was Spring, I felt. Or it should have been—life metamorphoses are best paired with blooming worlds. I had flown to New York to interview for a postdoctoral position at the Cognitive Neurophysiology Laboratory at the Albert Einstein College of Medicine. It was early morning on everyone’s watches. It was an indecipherable time of the day on mine. We sat and talked. About projects, possibilities. Cystinosis. One would assume that a word like cystinosis would dwell on one’s mental dictionary. But in the presence of a New York that was still cold and unknown, encumbered by all the new words, wanders, cystinosis was not a word I could easily remember at first. Allow me to be straight with you: I could not, for the life of me, spell it for a while, never knowing whether a y or an i should come first. I sat and read. And I understood cystinosis and its disease mechanisms, I memorized how to spell it, I realized the scientific and translational potential of the project I was about to embark on. But those who do not know, cannot see, as one would say in Portuguese. And I was about to discover that despite all the knowledge I had gathered, the most valuable lessons cystinosis had to offer me were yet to be learned.

I must have met the first families in the early months of 2017. Two spirited, joyful cystinosinhos (-inhos, the Portuguese diminutive, like a suffix you add to a noun to reflect love, tenderness). They were young, but both unequivocally and surprisingly willing to contribute to a rare community, their rare community. Coincidental, I thought at first, a hypothesis that was soon to be disproven. Each one of the individuals with cystinosis I was incredibly fortunate to meet and work with demonstrated the most inspiring fortitude, resilience. And a generosity so pure that they are willing to endure adversity to help the other. A concrete example: Several of the individuals who visited the Lab suffered from photophobia. Still, insisted in completing tasks in which flashes or flickering pictures were presented on a screen. It was their belief that this could be of benefit for younger individuals with cystinosis, for those yet to be born, and thus evaluated their discomfort during the process as trivial, when compared to the potential outcome.

Reader: Will you, for a second, close your eyes and imagine a world where each one of us is as amazingly rare as these individuals?

One would assume that a word like cystinosis would dwell on one’s mental dictionary. It did not then. It does now. A mental dictionary is not organized alphabetically, I should add. Rather, it seems to be organized in a more complex manner, with links between associated words. You may have guessed it already, but I insist on stressing: In my own mental dictionary, a strong association is to be found between cystinosis and love, selfless love. And I am immensely grateful to the cystinosis community for making me feel part of their family, for teaching me so much.

I should add that I am not alone in this path and, therefore, would like to thank those at the Lab who have been involved in this project: Douwe, Kathy, Alaina, Elise, Juliana, and Pamela. I would also like to share my gratitude to Sophie Molholm and John Foxe, who I first heard the word cystinosis from on that cold spring day: Thank you for your support and your trust.

We are honoring the “Great Givers” who’ve had an impact on our cystinosis community. If you’d like to learn more about this Giving Tuesday campaign, visit our event page.