Feb. 29 is the rarest day in the calendar, occuring every four years, but for the 30 million Americans with rare diseases it’s more than just leap day. Celebrated on the final day in February each year, Rare Disease Day honors the experiences of patients with rare diseases and calls for more research, funding and legislation to support them.
Not all disabilities are rare: a disease is considered rare if it affects less than 200,000 Americans, according to the National Organization for Rare Disorders. With over 6,000 identified rare diseases, patients have a wide range of different symptoms and struggles. But even among patients with drastically different diseases, they often share similar experiences. These shared experiences are the foundation for the rare disease community, a part of the disabled community that some say provides them with comfort, hope and support.
These experiences also inform the community’s advocacy in the nation’s capital both during Rare Disease Week — the week around Rare Disease Day — and throughout the year.
Shared challenges
One common struggle for those with rare diseases is an inability to get an accurate diagnosis after years of unexplained and unpredictable symptoms. Lack of scientific research and knowledge of rare diseases means that patients are commonly misdiagnosed and don’t receive appropriate treatment, according to the Rare Disease Day movement.
Marissa Ditkowsky, an alumna and adjunct professor in the Washington College of Law, waited years for her myotonic dystrophy type 2 diagnosis. She’d had symptoms of the disease, a form of muscular dystrophy that causes tensing and weakness in the muscles close to the center of the body, since childhood. She said it wasn’t until her final year of law school that she received an accurate diagnosis, which was key for doctors to monitor how the disease affects her other organs.
“I think for me, I just felt validated,” Ditkowsky said. “I think it was all these years where I was told ‘nothing’s going on and everything’s normal.’ I think to have a diagnosis just felt really validating. Like, ‘I know my body; I know that something is going on.’”
She added that although her disease qualifies as rare, she doesn’t find the label particularly helpful. She worries it sometimes leads doctors to dismiss the possibility that a patient has a disease because it simply seems unlikely.
“I think the reality is with a lot of these rare diseases that many of them aren’t actually that rare. They’re just severely underdiagnosed,” she said. “Which is really frustrating because the more you talk to other people, the more you realize it’s really not that uncommon. People are often dismissed when they bring in issues to their doctors, and doctors don’t necessarily have the knowledge or preparedness to know who to refer to that kind of stuff. And so, especially for women and people of color, it's really difficult to get an appropriate diagnosis.”
Karina Jeronimides, a senior professorial lecturer in the College of Arts and Sciences, lives with Friedreich’s Ataxia, a genetic disorder that causes progressive nerve damage and loss of movement. She said that after waiting for years, a diagnosis provided some relief, but she still wanted to deny it. She added that she found herself searching for a solution for herself and her brother with the same disorder.
Her struggles with the medical system didn’t stop after she received a diagnosis, though — as Jeronimides said she struggled to find doctors who could provide her treatment.
“When you have something so rare, doctors don't want to deal with you, because they get paid the same to treat you or somebody that does not have [it],” she said. “But me, it’s an entirely different ballgame. If they misdiagnose me or they do something wrong to me then they could get sued or have complications. So many doctors don't really want to see you. So you have to find that perfect one who will. It's a painful process, but you end up finding some really amazing [doctors].”
Then, there are the day-to-day struggles of living with a rare disease: not everywhere is accessible and able-bodied people aren’t always willing to accommodate.
Jessica Chaikof, a Class of 2022 CAS alumna, faced several instances where classes or campus services were inaccessible. Living with Usher syndrome 1F, she relies on cochlear implants to hear and has very little vision at night. As a result, she plans many of her activities during the day. When a campus shuttle driver forced her to get off the bus because of her service animal, she couldn’t get her groceries.
Chaikof added that the University refused to provide her support when she was coming back in the dark from her evening classes in the off-campus Spring Valley Building. Instead, she had to rely on her classmates and professors to help.
“So, eventually I was very fortunate — I want to emphasize this — my department and classmates eventually came up with some solutions, one of which is we moved the class to be remote, which I was glad about, but I was also disappointed because I came all the way out here to be in D.C., and then we go on Zoom,” she said. “But on days we had the class on campus, my classmates and my professor would either walk me home or someone would drive me home.”
The Rare Disease Day organization aims to call attention to these challenges and work for “equitable access to diagnosis, treatment, health and social care and social opportunity for people affected by a rare disease.” In the meantime, those living with these struggles — both those inherent to diseases’ symptoms and those caused by inaccessibility — find comfort and support in their community.
Finding a community
Those with rare diseases say they find hope not only from others with rare diseases, but also those with other disabilities and able-bodied friends.
For Ditkowsky, the disabled and chronic illness communities provided support during times of uncertainty and helped her see her illness in a positive way.
“Thinking about things in a way that is empowering as opposed to doomsday is really helpful for my framing,” she said. “I feel like people, sometimes when they get a diagnosis, see it as kind of like a life sentence almost. And that just doesn't have to be the case.”
Chaikof said she found community with others with the 1F mutation. Though she had been active in the larger Usher syndrome community as a volunteer for the Usher Syndrome Coalition for years, she and her family eventually chose to form a foundation — the Usher 1F Collaborative — to search for a cure for the 1F mutation.
“It was really frustrating because the common most type of Usher syndrome is Usher 1B, followed by Usher 2A,” she said. “There's a ton of research on those mutations. But those of us with the Usher 1F mutation and others were being left behind. And so I mostly stay focused with that part of the community because in some ways I've kind of burned out dealing with [the broader community].”
She said that though she was grateful for what the broader community did for her, the many hours of volunteer work started to take a toll on her mental health, leading her to step away.
Jeronimides said she found support through both disabled friends she’s connected with on social media and able-bodied friends. She said that realizing not everything doctors predicted for her was set in stone helped her follow her passions, adding that her students at AU give her hope and purpose.
“Only believe in yourself, listen to your body and follow what makes you happy – for me it was the study of languages, their cultures, their literary and artistic expressions and then passing that knowledge onto others …” she wrote to The Eagle in an email. “And it’s so fulfilling when those others are AU students. The university seems to pick you -AU students - not just on intelligence but foremost on your good will and on your desire to make the world a better place. And when you have a rare illness, that’s the kind of people that you need to be surrounded by.”
This article was edited by Samantha Skolnick, Zoe Bell, Abigail Turner and Abigail Pritchard. Copy editing done by Luna Jinks and Isabelle Kravis.
