In Celebration Of Rare Disease Day: The Human Side Of Epidermolysis Bullosa
In celebration of Rare Disease Day, the following is a republication of an interview that the Orphan Druganaut Blog was honored to have with Michaela O’Brien, director and producer of “In Crystal Skin”, a documentary on the human side of what it is like to live with the rare disease Epidermolysis Bullosa (EB) in a South American country. In 2014, a successful Indiegogo campaign is completed raising $25,000 to complete the film’s post-production.
EB is a rare genetic connective tissue condition that involves very fragile skin that blisters or tears with the slightest trauma or friction. EB patients are known as having “Crystal Skin”, and are also referred to as “Butterfly Children” due to the fragile nature of the skin, similar to the fragility of the wings of a butterfly. There is currently no cure or effective treatment, outside of daily wound care, pain management, and preventative bandaging.
The biopharmaceutical company, Scioderm, announces in April 2013, that the company’s investigational topical cream, SD-101, receives the FDA’s Breakthrough Therapy Designation for the treatment of patients with inherited Epidermolysis Bullosa (EB). Since 2014, 4 products have received FDA Orphan Drug Designation (ODD) for EB.
Please tell us a little about your relationship with the EB patients that you followed in Colombia ?
The first EB patient I met was in an orphanage in Bogotá, Colombia. She caught my eye because her body was almost completely covered in saran wrap and I wanted to understand why. I had never heard of EB before. She was courageous enough to share her story with me and introduced me to her sister, who also has EB. Through these two brave women, I was introduced to many other EB patients. One man is the oldest known patient living with EB in Colombia at 43 years old. Another is a 12-year-old girl, whose story sheds light on the family dynamics of managing life with a rare disease.
What is it like from the patient perspective to live with a rare disease that currently has no cure ? What is the impact on the families or caretakers ?
Living with a rare disease which currently has no cure is tremendously difficult both for the patient and their family or caretaker. There is no end in sight for their disease or for the difficulties it causes. It can be a struggle to muster hope for the future when science can offer patients no resolution. EB is a disease of constant management, it requires intense care and maintenance, so though there is no cure, patients with EB hope for products and orphan drugs to alleviate their wounds and lessen the routine of constant care.
What does Colombia offer from both a social, medical, and financial perspective to help those living with EB and rare diseases ?
DEBRA or the Dystrophic Epidermolysis Research Association is an international organization dedicated to funding research and providing services to those with EB. It functions in many countries around the world, but some have existed for decades while others for only a few years, and some have more financial resources from their countries and governments. DEBRA Colombia is a very small organization, spearheaded by a few dedicated professionals who are very caring and supportive, but it is strapped for internal resources and medical professionals and products to care for their patients. From what I saw there seemed to be no other source for social, medical, or financial care for EB specifically. There is also an issue of general rare disease awareness and knowledge in Colombia, as well as many other countries. For example, a medical professional in Colombia explained to us that they only have 43 registered EB patients, and they estimated that given the population of the country there is about 90% of the EB patients left to be diagnosed and treated.
What have you learned from making “In Crystal Skin” and following these patients in their everyday lives ?
While making “In Crystal Skin” I have learned a great deal about hope and perseverance from patients. I am continually impressed with patient’s ability to remain positive in the face of adversity. The people I have met with rare diseases want to move forward in life just like anyone else, and they have dreams and aspirations which they live to fulfill. One of the most beautiful forms of intelligence that those with rare diseases have is the understanding of uniqueness, and how to be proud of it. EB and rare disease patients desire to understand and express their individuality and deserve that utmost respect for that courageous act.
Is there a particular moment or conversation that affected you and stands out as a message to others about living with a rare disease ?
There are many moments from filming in Bogotá, Colombia with the subjects of “In Crystal Skin” which stand out in my mind. One particular conversation was with a young mother named Jackeline, whose 12 year old daughter has dystrophic EB. One day while filming she broke down in tears and expressed very candidly the difficulties of being a mother of a child with a rare disease–the limitations it puts on a young woman basically confined to the house in order to provide constant care for her child, the financial burdens it places on a low-income family, and the difficulties of wanting your child to be treated normally, while understanding the fragility of their physical and emotional well-being. We talked for hours and in a way it was a cathartic experience both for her and for me. The conversations I have had both on and off camera bring the film closer to understanding the uniqueness of managing life with a rare disease.
Once you complete the editing the documentary, what are your plans for making it available for others to view ? Will the documentary be shown at any upcoming Film Festivals ?
With funds raised through our Indiegogo campaign, we hope to complete the editing and post-production by early spring 2015. After that we will work diligently on outreach and distribution, applying to a variety of well-established film festivals with the hopes of gaining a wider audience and working with distributors. Finally, we will make the film available online as well as on DVD for all to see!
Thank you Michaela for your time and we wish you the best with sharing your documentary with others.
Please Note: Photo courtesy of Michaela O’Brien.
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