For some students with rare diseases, things like walking across campus in cold December weather, standing on a crowded bus as it slides over icy roads or writing with a pencil during a final exam can be difficult.
The Rare Disease Awareness Club (RDAC), which will be holding their next meeting via Zoom this Wednesday, seeks to improve understanding of rare diseases and provide a community for people who live with them or want to learn more about them. According to the club’s student organization page, a rare disease is any disease, disorder, illness, or condition affecting fewer than 200,000 people in the U.S. at any given time.”
Emma Snavely, a senior in genetics and the club’s current president, says that she first found out about the club at ClubFest. Snavely has two conditions. One is called CMTC, short for Cutis marmorata telangiectatica congenita, which affects the body’s blood vessels and temperature regulation. The other is congenital glaucoma, which is likely tied to her CMTC.
“I went to a really small [high] school…and no-one at my school really understood my experience and it was kind of isolating,” Snavely said.
Upon attending her first RDAC meeting as a freshman at Iowa State, Snavely remembers how she felt.
“I got to know everyone, and I remember sitting at the first meeting being like, ‘oh my god, they get it,’” she said.
The club, which is connected to the National Organization for Rare Disorders, was founded in 2018 by Scarlett Eagle, who has Ehlers-Danlos Syndrome (EDS). EDS is a disorder in the body’s connective tissues—mainly “skin, joints and blood vessel walls,” according to Mayo Clinic. Eagle has since graduated and now works for the Ehlers-Danlos Society.
“I believe that first year, she had like 100 people sign up…” Snavely said. “The club was her baby, and she really just poured everything into it. She hosted this massive Rare Disease Day...We haven’t had a Rare Disease Day quite that big since 2018.”
The club frequently gives speakers the opportunity to present at their meetings. Alannah Skinner, a senior in biology, has two autoimmune disorders and presented at the club’s last meeting in October. She is relatively new to the club, and is now a cabinet member.
One of her motivations to join the club was a desire to “help raise awareness for different autoimmune conditions…due to various family members dealing with those disorders.” For her presentation, Skinner talked about her own personal health struggles, as well as how autoimmune diseases work at the cellular level.
“Genetics and how the cells work [are] my absolute favorite thing to talk about in regards to rare diseases,” Skinner said.
At this Wednesday's meeting, Eagle will discuss the rare disease nonprofit industry. Also presenting at the upcoming meeting will be RDAC member Abbie Stallard, who plans to talk about her own experience with Ehlers-Danlos. Stallard, a freshman double-majoring in linguistics and French, discovered the club at ClubFest. That was where she got the opportunity to present.
“I went to the club fair and signed up for a bunch of stuff, like you do as a freshman, thinking you’re going to go to everything, and I saw [RDAC] and was like, ‘Oh my gosh. That’s me. I’ll do it.’” Stallard said.
Trying to get help from doctors and explain her condition over the past couple of years has been “an isolating experience” for Stallard, who discussed what it’s like to have her condition.
“EDS is a terribly painful condition,” she said. “It is horrible, honestly. There’s really no other way to be more positive about it… You’re just, like, scooping water out of a boat with a big hole in it with a spoon the whole time…All you’re trying to do is maintain a baseline, be a functioning human being.”
Her Ehlers-Danlos is linked to other disorders, or comorbidities, that she has. One of these is POTS, or postural tachycardia syndrome, which can cause dizziness or fainting when standing up. Another is mast cell activation syndrome, which can cause allergies to things like heat.
“You manage the comorbidities,” she said. “I really don’t manage EDS. I manage my POTS. I manage mast cell activation. I take antihistamines. I take a lot of salt tablets… the amount of Gatorade I drink would make you have a heart attack—a lot of electrolytes to keep my blood pressure up…Before I knew I had POTS, I would stand up, and my vision would go out… I thought that happened to everybody every time they stood up.”
Having a rare disease comes with challenges beyond just symptoms, however. Skinner, Snavely and Stallard all alluded to the diagnostic “journey” or “odyssey” that people with rare diseases face. One experience that people frequently have on this journey is not being believed.
“I feel like that’s the only universal experience [among] people with rare diseases…” Stallard said. “I never thought that would happen to me… That’s exactly what happened to me.”
Stallard said that physicians attributed many of her symptoms to growing pains or just being a teenager. For many, this struggle to be taken seriously can be made more difficult by other factors, such as a person’s gender and race.
Skinner recounted one experience with a doctor during an ER trip for abdominal pain early in her journey.
“He said, ‘It’s pointless to scan you, because most girls your age will just come in here and claim that they have pain, and we will never find anything.’” Skinner said. “I questioned for a while if maybe I should just deal with the pain and not keep going to doctors, because I didn’t want to feel like a fraud. And eventually, I decided obviously that’s not the right choice, and I was able to get help from a really, really good [primary care physician] that I have.”
Even if physicians recognize symptoms, getting a proper diagnosis for a rare disease can take a long time—an average of 4.8 years, according to RDAC’s page.
“[For a lot of rare diseases], there’s no definitive test that can be given,” Snavely said. “It’s a checklist… But then all of those individual providers have to know about that checklist. They have to know enough about rare diseases to say, ‘hey, I’m going to look into this.’…A lot of these diagnoses happen on, like, physician #8, or a physical therapist who happens to know about EDS.”
Other reasons why a disease may go undiagnosed include doctors not wanting to admit that they don’t know something or a hesitancy to diagnose someone with something that is severe or uncertain. In Stallard’s experience, doctors may diagnose the comorbidities of a rare disease while avoiding a diagnosis for the disease itself.
“Insurance, especially [for] things like physical therapy, will count [EDS] as a pre-existing condition, and then it won’t cover anything for it… so a lot of people will actually try to avoid getting [a diagnosis for EDS],” she said.
When (or if) a person has been diagnosed, getting treatment can present new hurdles, especially considering that, as RDAC’s page says, “only 5% of rare diseases have FDA-approved treatments.” Snavely gave several examples of challenges that come after diagnosis, including coping with a diagnosis, seeing different specialists who are in high demand, waiting for appointments, paying for appointments, traveling and missing work.
Skinner talked specifically about the cost of treatment.
“[For both of my disorders], you can kind of take your pain meds, you can take your enzymes… but there’s really no cure, unless you want to try all the drugs that you see advertised on TV, like Humira.”
Humira, known generically as adalimumab, treats inflammation. Skinner said that the cost of this and other treatments can be a barrier for many who need them.
“The problem [is that] you pay an arm and a leg just to acquire it, so a lot of people can’t get the necessary drugs to treat their illnesses.”
Even if a treatment is available, some people may choose not to take it if they are able to manage their symptoms without it. Many people must become their own advocates, doing research to learn more about their conditions and treatment. Throughout all of this, it can be easy to feel frustrated and lonely, which is why validation is essential. A physician who is knowledgeable and aware of rare diseases can make a difference. Stallard said that a physical therapist that she had for a recent injury was “wonderful.”
“She works with people with EDS all the time. She talked me through it. It was a very validating experience… Physical therapists are so knowledgeable about connective-tissue diseases,” she said.
Students who plan on entering a field in which they will need to interact with patients may find that awareness of people with rare diseases can help them.
“A lot of students are pre-health professionals, and one of the biggest issues that people with rare diseases face is… a lack of understanding from medical professionals…” Snavely said. “If you know about rare diseases in general, then when someone comes in with a rare disease… you might be more willing to hear them out and really give them the care that they deserve.”
While not everyone with a rare disease is disabled, there are things that students can do to help those that may have invisible disabilities. Snavely gave the example of someone asking you for a seat on a bus, and how it would be important in that situation “to not assume anything about them” and to believe them, even if they don’t look like they have a medical condition.
“If someone can’t see that you have [a disorder], whether it’s rare or not, there’s a tendency to not believe you or to pass judgement…” Snavely said.
People with rare diseases have good and bad days. Symptoms may flare up and dissipate in waves. It can be confusing for someone who doesn’t have a disease to see someone not needing accommodations one day and then needing them the next.
“Once you’re given a diagnosis, and you tell [people] that you suffer from it, most people are going to believe that…” Skinner said. “But what you do experience a lot is the ‘oh, well you don’t necessarily look sick…’”
In terms of what they are comfortable talking about when it comes to their conditions, both Skinner and Stallard expressed openness—with a few caveats.
“A lot of [people with rare diseases] don’t want that to be the primary thing that people see when they’re talking to them,” Skinner said. “They would rather have somebody get to know them as a person, rather than pitying them for having a disease…”
Stallard said that “any kind of interest is encouraged,” especially from people she lives with, but indicated that she’d rather people not give her unsolicited medical advice or suggest alternative treatments in an attempt to “fix” her condition.
Managing a rare disease can become more challenging when entering college and dealing with the accompanying pressure to put academics before health.
“You have to really do the very most to keep up, educationally and professionally, because everything is so competitive.” Stallard said. “But that’s not always possible for people like us, and that’s okay. We don’t have to pull all these all-nighters to get this perfect score, because that’s not going to be good for us in the long run…because our health is actually more important than our education. People don’t say that. Even I don’t say that often. But it’s true.”
The switch to online classes due to the pandemic brought a reprieve to many people with rare diseases.
“The ability to be online has helped out so many students, and we needed that all along… but it took a pandemic to get that.” Snavely said. “And now, of course, we’ve switched back, which has been great, but much less accessible for people who need that.”
Stallard, who would have been in high school last year, said that COVID-19 showed that institutions have “the ability, the means, and the will for these kinds of accommodations that they would not do without the pandemic.” She gave being able to take medicine, exercise, sleep, and avoid harsh weather as things that online school gave her more leeway to do.
“Everyone just became very flexible with everything… and I was like, ‘where was this?’” Stallard said.
For Skinner, classes being online “provided a lot of freedom.” She said that she would do her work whenever she felt the best. Now that most classes have returned to in-person instruction, she has had to adjust. She said that she arranges her work into three categories: tasks that require a lot of energy, tasks that require a medium amount of energy, and tasks that require little energy.
“I get the high energy things done right away, when I’m feeling good and I know I have energy, and then I have the rest of the week, if I feel bad, I can just get the low energy items completed,” she said.
Skinner said that the Academic Success Center has helped her with the return to in-person classes. She also talked about the importance of communicating with instructors about possible absences and other things that might come up so that they can know what to expect.
“Meeting one-on-one with them is most helpful… not necessarily after class, because they’re packing up and they’re not as focused, but if you go into their office hours… and lay it out ahead of time…” Skinner said.
During this apparent return to business as usual, being part of a community of people with similar experiences or who just want to learn more can be helpful.
“I really enjoy that [RDAC allows] various students and members of the community… to come in and have their own platform… because that helps lead to diversity of opinions and experiences that helps you have compassion for what other people are going through,” Skinner said.
Stallard, who says that the upcoming meeting will be her first one due to prior commitments, figures that joining RDAC will help her meet other people who understand her.
“I thought it would be really cool to join a larger community of people who have my condition—many do here, I’ve just realized—and other conditions that I know less about… That was a big motivation for me.”
Snavely explained what she likes about the club.
“It’s really encouraging to see people… who do have rare diseases there, be able to learn from each other and be supported by each other, but also to see people who don’t have rare diseases care enough to be there and learn… I’ve met so many great people through the club,” she said.
RDAC holds their next meeting this Wednesday over Zoom. More information on the meeting and the club itself can be found on their student organization page.