In the Spotlight: Positive Exposure’s First Rare Disease Day Film Screening

Above: Treasure & Jackson, Ichthyosis Arci-Lamellar. Photo By Rick Guidotti for Positive Exposure.

By: James Barnett & Samantha DiSalvo

Einstein AADMD and Positive Exposure celebrated their first annual Rare Disease Day film screening Feb. 28 at the Positive Exposure gallery in NYC. The day was first celebrated in 2008 on a day that only comes once every four years: Feb. 29. Since then, it’s been observed on the last day of February.

Rare Disease Day celebrates the lives of people living with rare diseases and raises awareness for approximately 7,000 different rare diagnoses.While each rare disease affects fewer than 1 in 200,000 people, collectively they affect over 300 million people worldwide, about 5% of the world’s population. Each disease is so rare there is often a lack of provider knowledge and education, leading to many healthcare inequities. The day brings these disparities to the forefront with the goal of improving lives.

Rick Guidotti, the founder of Positive Exposure, hosted the film screening and was the catalyst for what would be a spectacular day.  New Yorkers of all walks of life attended. The gallery was filled with advocates, healthcare professionals, students, family members, and friends. Three incredible films that focused on living life with a rare disease were shown, and seven amazing speakers shared their experiences. I do not think one person left the room unmoved by the stories of perseverance, growth, hope and humanity. 

It’s hard to put the energy felt in that room into words, so to give you a glimpse into our Rare Disease Day event, here are some words from the speakers themselves.

Gabriella Amaya talked about her life with Ollier’s disease and the relationship she has had with various doctors growing up. 

“When you live with a rare disease, there is so much you don’t know. I’ll never forget the moments when my doctors gave me autonomy when they could, even if it was as small as scheduling my next procedure. It gave me a sense of ownership when most everything happening to my body was out of my control.

“The patient-doctor relationship is essential to achieving positive outcomes. When working with a patient with a rare disease it can be daunting and scary. The truth is, we need to be comfortable with what we don’t know and have critical questions for each other. We must normalize the patient narrative as a central component to providing the best care and foster safe space for honest and open dialogue between each other."

Christopher Alvarez talked about living with Thanatophoric Dysplasia Type 2 and his ability to constantly push past the boundaries of what medical professionals and society, at large, set for him. 

"It was a wonderful weekend spent with real champions of life. I've never truly known how to celebrate or even embrace Rare Disease Day up until last weekend when I was able to reconnect with disability advocates who remind us day-to-day that disabled does not mean unable. We're everyday citizens trying to be seen or heard by showing that life is worth fighting for no matter the obstacles placed upon us. With a positive mindset, we can and we will achieve even our most lucrative goals."

He had this message for physicians: "Are you a scientist or are you a doctor? Stop listening to tick boxes, listen and look at us. A good doctor-patient relationship is when both parties are open to learning from each other."

Giuseppe Floccari talked about living with Thrombocytopenia Absent Radius Syndrome, and his relationships with doctors. 

“Without my disability, I would be just an average person. Born with TAR syndrome, I am that needle in a haystack. I am rare [and] imperfect in many eyes except for mine and my community. Being a part of the 1 out of whatever number I am that has this rare disorder makes me who I am today. It doesn't totally define me but it is the driving force behind my willingness to thrive and stay alive. I am the face of TAR syndrome. Perfectly imperfect in every perfect way.”

Elizabeth Jameson talked about her journey to accepting and loving her MS through the transformation of her brain scans into colorful, bold, and lively art pieces. 

“What is amazing is that the event on Rare Disease Day was about discovering community, finding warmth and comfort with other people like myself. It was fascinating to learn about how others live with their rare diseases, and it expanded my world in a way that I didn't know existed. Even though multiple sclerosis isn't as rare as many of the others, it made me feel proud and excited to be a part of this previously unknown community. There is power in numbers, and our advocacy efforts continue to grow for as long as activities such as the screening event on Rare Disease Day continue to gain momentum.”

Merlene Smith-Sotillo and Molino Sotillo talked about their son and daughter who were born with sickle cell disease, the motivation behind creating the Sickle Cell Awareness Foundation Corp Int (SCAFCI), as well as the importance of getting tested for sickle cell trait.

“The Sickle Cell Awareness Foundation Corp Int will continue to address the challenges confronting families, and individuals identified with hemoglobin disease. We will continue to provide counseling, education materials, and clinical referrals from our office, [in] Jamaica Queens, New York. It's also a resource for individuals seeking in-depth information on hemoglobinopathies such as Sickle Cell Disease and Thalassemia. Together we continuously provide services and touch the lives of people we may never meet.”

In medical training, we are often buried in our studies reading page after page in the textbook, going from one practice question to the next, and constantly pushing to learn more. Learning about humanity and the stories of our patients is a skill that is not often taught nor emphasized as a skill to be practiced. This event was a reminder that as medical professionals, it is our duty to listen to our patients, understand their stories, and work together to improve their quality of life. We need more events like this one to allow individuals to share the importance of their stories and push healthcare professionals to be better.