Living with Epidermolysis Bullosa: Rare But Not Alone
By Megan Barron:
There comes a point in every child's life where they hit an age of self-awareness. They start to see themselves in relation to the world around them.
For those of us who live with a rare disorder, that age of self-awareness is a turning point and often comes at an earlier stage.
Some of us may start to realize that people stare at us, whispering as we walk past if our conditions are readily visible. Others may begin to discover that other kids on the playground don't have to make such frequent trips to the hospital.
It's not uncommon for children to notice that they might be different. However, for us in the rare disorder community, we come to realize we're not just different; we're rare.
In the case of my condition, epidermolysis bullosa, I do not properly make the protein that binds my layers of skin together, rendering it fragile and causing scar buildup on my hands after years of reoccurring healing. It also affects my internal organs, mainly my esophagus, making eating a challenge as well.
The ricochet effects of EB are complex and painful, prompting a self-awareness in me that indeed hit sooner than my peers.
My questions started with the seemingly obvious: why did no one else have to wear bandages? With age they turned more complicated: Why did no one else want to hold my hand? Why did I know as much about my condition as most doctors?
It left both me and my parents without a script when it came to grappling for answers and coming to terms with the label of "rare" and the person behind it.
My family and I did come to learn rather quickly that "rare" also meant a need to be constantly on the defensive. We with rare disorders must always defend our place in society:
Defend why research for our treatments deserve funding when they hold little promise for large profit margins.
Defend our need for medical coverage against impossibly expensive bills.
Defend our place in the classroom and the need for proper accommodations.
Defend our right to even exist in public spaces, as was the case just last week. A family with three children with EB Simplex were asked to leave a by Golden Corral manager in Michigan because other customers feared their 18-month-old baby girl was contagious.
Coming to terms with life as a rarity is a complex challenge that has no clear-cut beginning, middle, and end. The relentless work on the defense provides fuel for addressing everything with all aspects of our lives with a certain outlier mentality. We learn to adjust to being a constant exception - not a rule. We will always have to educate the public and medical communities alike as to why we also matter.
We start by recognizing that it is the condition that is rare, not the person.
Take me, for example. Yes, I have EB, but did you know I also love Netflix marathons on Friday nights? Or that I am a history buff with a particular interest in the first ladies? Like many kids my age I went to summer camp every year until I was 16. Like many little sisters I put up with the gleeful torment of my big brother. Calculus was my kryptonite in high school. I have notoriously bad sense of direction. Put on any Spice Girls song, and I bet I can still sing you the lyrics out of tune but with no less enthusiasm.
My extensive medical needs notwithstanding, I sound not too terribly different from any other twenty-something trying to find my place in the world.
You know what else is not so rare? Having a rare disorder.
That's right, as we celebrate International Rare Disease Day, we are reminded that although each individual disorder, by definition, affects fewer than 200,000 Americans, collectively there are nearly 7,000 known disorders recognized by the NIH, according to the National Organization of Rare Diseases. This brings the population to nearly 30 million Americans. We are a diverse but large community.
Much of the research that goes into finding our cures and treatments is on the frontiers of medicine - from stem cells to gene replacement. These also happen to be the key to unlocking some of the most confounding public health crises of our time.
Thirty years ago, the Orphan Drug Act sought to address these issues by putting in place economic incentives for drug companies to invest in research for rare and orphan disorders. Passage of such landmark legislation is only where the real work begins. Access to resources - such as adequate insurance coverage and quality, specialized medical providers - is equally important to manage our health needs until the day the breakthrough arrives.
In this celebration of International Rare Disease Day we continue to advocate and defend for more legislation and access to vital care for our conditions. It should also be a time to remind us that this label is a qualifier for our medical needs and not who we fundamentally are as people. It should serve to answer the question of "why we matter."
May we come to also celebrate the parts of the rarest among us that make us not so rare after all.
Megan Barron is a 22-year-old Duke University senior. Barron, a former White House intern, plans to spend next year doing advocacy work, and then attend graduate school to receive her master's degree in public administration.
A Day in the Life is a series of blogs written by people who are living with medical conditions.