A Rare Genomics patient is diagnosed using Genomenon’s Mastermind Search Engine

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A Rare Genomics patient is diagnosed using Genomenon’s Mastermind Search Engine

Los Angeles, CA; February 27, 2019: Getting a diagnosis for a rare disease is a long and often painful journey that can take an average of five years and hundreds of doctor visits. Sometimes, the answer never comes; conventional diagnostics does not always provide a diagnosis for diseases that are only found in one in a million or one in 10 million people. Because most rare diseases are genetic in nature, genomic DNA sequencing can be used to provide answers that conventional approaches cannot.

Most families affected with rare diseases are under financial strain, making access to genetic sequencing technologies difficult. Rare Genomics Institute, a non-profit patient advocacy group, meets these patients at the end of their diagnostic odyssey – when all other means of diagnosis have failed and when financial resources are no longer available to continue the diagnostic process. Rare Genomics has created an ecosystem of leading technology partners and genetic experts from top research institutions around the world to give patients access to world-class genomic sequencing, data analysis and interpretation services. Often, Rare Genomics works with their partners and volunteer experts to re-analyze cases that have hit a dead end. 

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Leading the Way: Positive Exposure

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At the Rare Genomics Institute, we understand that enacting change cannot happen unilaterally and that solving medical mysteries does not come without teamwork. We stand proudly at the forefront of the utilization of genomic sequencing for the purpose of identifying, treating and hopefully curing rare diseases. At the same time, we realize there are many other people outside of our organization who are just as fundamental to the fight against rare diseases as we are. The team at RG is inspired by those who dedicate their lives to helping others affected by rare disease. Here is one of their stories:

Change how you see; See how you change:

Too often society focuses on diseases rather than the people who have them. Rick Guidotti's mission is to change that. For years, as a fashion photographer for publications like Elle, Harpers Bazaar and GQ, Rick was commissioned to photograph people who fit societal standards of beauty.

Now, as founder and CEO of the non-profit Positive Exposure, Mr. Guidotti aims to alter society’s perception of beauty by photographing those with diseases in the same way that he used to photograph supermodels.

On a cold January afternoon Rick invited me to his non-profit's studio office in New York City. Upon entering the space, it is impossible to look away from the large, vibrant, glossy photos on the walls. Rick's depictions draw you in and force you to live in the moment of each photo. The only thing tearing me away from getting lost in the images was Rick's enthusiasm about them.

Positive Exposure has been featured on NBCNews, in a documentary titled On Beauty (Kartemquin Films) and most recently as part of an exhibit at the Museum of Tolerance in Los Angeles, CA. Rick has spoken at medical schools and has given a TEDtalk as part of his passion project, and it is apparent in speaking with him that Rick has not lost sight of the importance of his work.

Describing the encounter which led him in this unique direction, Rick is candid, “I see beauty everywhere as an artist. Walking down Park Avenue, after a casting for a magazine spread that I was shooting, I saw a kid waiting for a bus with albinism. She didn't have pigmentation in her hair, her skin or her eyes. I was so excited because there was this beautiful kid, yet (she had) never, ever been included in (the) beauty standard.”

A lack of positive imagery on the subject of people with albinism drew Rick further into his work, “I found images of kids up against a wall in doctor’s offices, naked usually, with black bars across their eyes…It was so mind-blowing that this beautiful kid never inspired anything but this negativity. I couldn't find one positive image.”

So rather than find positive images, Rick was moved to create them. Through a partnership with the National Organization for Albinism and Hypopigmentation (NOAH), Rick’s first photos for Positive Exposure were snapped. His work with NOAH ultimately led to a photographic essay which would later be featured in a Life article titled, Redefining Beauty.

His first encounter in a studio with an albino model solidified Rick’s inspiration, “It was really apparent that this kid had zero self-esteem as a direct result of the bullying, the teasing and the abuse she experienced every day in school. She was breathtakingly beautiful, yet she didn't see it. She needed to change the way she saw herself.”

It was in that moment when Rick crafted the motto of Positive Exposure, “Change how you see; see how you change.” This message has now been cultivated through images of people with a wide variety of diseases, not just albinism. Rick has held his lens in front of people with Marfan’s Syndrome, people with a Chromosome 18 Anomaly, those suffering from Potocki Lupski Syndrome, and many, many others.

He photographs mostly children and young adults who suffer from rare diseases, but Rick also photographs those children’s families and friends. Positive Exposure is as much about capturing the joy and happiness of little moments in people’s lives as it is about raising awareness of the many differences among us.

In our next post, we will follow up with Rick Guidotti about the specific programs his organization has implemented. In the interim, please note that the Art Director's Club in New York City will host Positive Exposure's Spring Gala from April 5th through the 12th. The event will include interactive exhibits with a full complement of Rick's photographs as well as community talks. The movie On Beauty will be screened and a book containing much of Rick’s work will be debuted during the exhibition.

Check out Part Two of our conversation with Rick here.