Rare-Disease Patients Know: We All Deserve Better Care

In April, Zoey Alexandria, the transgender voice actor behind Dead by Daylight’s The Unknown and a voice coach, died at age 29 from complications of a rare autoimmune disease. Before her death, Alexandria shared a post on YouTube about her choice to cease treatment for nonparaneoplastic limbic autoimmune encephalitis and stiff person syndrome.

“Over [two] months ago, I decided to permanently stop treatment for my autoimmune illnesses,” Alexandria wrote. “The side effects were absolutely horrendous and the treatments only provided a temporary fix that has to be administered again and again for the rest of my life to stall the illness, which isn’t a cure.” She ended the post by naming her dual diagnosis, which she had been largely private about aside from a post she made in 2021.

For people with rare diseases—estimated to be between 263 and 446 million people worldwide—finding the right doctors and treatments can feel like a Herculean feat, a reality Alexandria knew all too well. “There is no long-term cure,” she wrote. “I’m very very very sick, things are progressing fast. I’m wheelchair or bed bound most of the time. I had 16 seizures yesterday and over 30 stiff person attacks.”

In the United States, rare-disease patients often go into significant medical debt to pursue treatment, even traveling to different states to see specialists with months-long waiting lists. In addition to the monetary burden, those seeking treatment for rare diseases also face a mental, emotional, and spiritual toll. 

“I wake up with excruciating pain,” says Samantha Jade Durán, a disabled adaptive fashion influencer and one of just a few hundred people in human history to have been diagnosed with Maffucci syndrome, a cancer disorder that causes bone tumors and vascular lesions most often in the hands and feet. “There’s not a moment that I don’t have excruciating pain, which is awful for a variety of reasons. It obviously takes a toll on your mental health and your social and interpersonal and professional life. The first thing I have to do in the morning is wake up, take my opioids, and then wait an hour just to be able to get out of bed and do anything at any capacity.”

In the face of these obstacles, rare-disease patients like Durán must relentlessly call insurance companies and medical offices, create and share resources, and form care networks to lift some of the burden—and help keep them alive.

Routine Misdiagnosis

As a baby, Durán was misdiagnosed with Ollier disease, which similarly causes bone tumors in different parts of the body. When her father sought a second opinion, she was again misdiagnosed, this time with fibrous dysplasia, which occurs when scar-like tissue replaces healthy bones.

“They ran with that diagnosis until I was 18,” Durán says. “The treatment is similar in that I still got leg lengthening, but I was also supposed to get annual cancer screenings with full-body MRIs or full-body CT scans with radiation, and they weren’t doing that.” The Cleveland Clinic notes that Maffucci syndrome patients are more susceptible to all types of cancers, with up to 50% of Maffucci patients developing chondrosarcoma, a bone cancer that begins in cartilage cells. (Durán estimates her odds of getting cancer at 55%.)

Just before Durán graduated high school, her doctor misdiagnosed her with cancer and referred her to orthopedic oncology. However, when she showed up for her appointment, she learned she’d been kicked off her childhood disability benefits when she turned 18. To continue treatment, she had to apply for adult benefits or find other insurance, which would severely delay care.

In 2017, Durán was officially diagnosed with Maffucci syndrome. “[Maffucci syndrome] is so rare that when I was diagnosed, they didn’t even know what gene caused it,” Durán says. Unfortunately, Durán isn’t the only rare-disease patient who’s been misdiagnosed more than once.

Miranda Edwards, a.k.a. Pheo Vs Fabulous, was dismissed by multiple doctors for “anxiety” when she had a malignant tumor in her adrenal gland. Due to the delay in care, her tumor became untreatable. She has been “terminal and thriving” since 2014, sharing each step of her journey online as well as resources she’s created herself—like a medical résumé template—so others can advocate for their health.

In 2023, Edwards asked for help raising thousands of dollars to pay for life-saving molecular testing of her thyroid after she was outright denied surgery to remove a Grade 5 tumor because of her existing condition. Edwards, who is based in Canada, said her health care would have paid for the testing if the tumor had been Grade 4 or lower; essentially, she was once again put at extraordinary risk because of doctors dragging their feet with the “watch and wait” approach.

Tools for Progress

In many cases, rare-disease patients are forced to become the foremost experts on their conditions, putting them in the position of educating the medical professionals who are supposed to be treating them. “I think a lot of health care professionals give up on finding answers beyond our rare diseases,” Durán explains. “I was at a Maffucci syndrome and Ollier disease patients summit at Johns Hopkins last year, and my researchers told us that when doctors see a rare-disease patient, they often focus on the rare disease and forget [the patient] can have common diseases too.”

Durán describes seeing multiple doctors, independently researching her test results, and persistently asking questions of her care team, particularly when they didn’t have an immediate answer for symptoms that didn’t line up with her Maffucci diagnosis. Eventually, she was diagnosed with both hypermobile Ehlers-Danlos syndrome and Hashimoto’s disease. “We already deal with a lot of health issues,” Durán says. “Stress is a notoriously bad thing—for lack of a better word—for pain, for chronic pain and energy levels and mental health. I think having an advocacy group to help patients navigate the system would definitely improve the quality of our lives.”

Since 2008, the last day of February has been celebrated as Rare Disease Day, a patient-led effort coordinated with more than 65 global organizations, including the European Organisation for Rare Diseases (EURORDIS), to raise awareness for lesser-known diagnoses and the people living with them. Stanislav Ostapenko, who’s been director of communications at EURORDIS since 2021, says rare-disease patients must have strong support networks, including online, to effectively navigate their illnesses.

“We know that patient populations are very scarce,” he explains. “We know that for certain diseases there are just a handful [of] patients across the globe. So it is very important to know that you belong to a community and you can be accepted, you can be understood, and you can also speak to people who have the same condition as you do and that you can find support.”

A major component of Rare Disease Day is translating and adapting tool kits for multiple languages and impairments so anyone can use them, even if they lack expertise. EURORDIS uses this tool to encourage us all—those with rare diseases and those without—to be good patient advocates.

The Significance of Burnout

A 2024 study from the physician network MDVIP and online random-probability panel Ipsos KnowledgePanel indicates that 61% of polled patients see the U.S. health care system as a hassle and that one in three are “burned out.” One-third of patients reported deferring care in the last five years because they couldn’t get a timely enough appointment to address their concerns or they had a bad experience with a provider. The survey also states that at least one in four Americans who did seek care suffered a negative impact on their mental health, had worsening symptoms, or were misdiagnosed.

All of these factors lead to patient burnout, with chronically ill, disabled, and rare-disease patients facing these issues on a more frequent basis because of how often they are forced to seek care for symptom management, procedures, and medications.

In her 2022 book The Future Is Disabled, Leah Lakshmi Piepzna-Samarasinha writes about the importance of learning both one’s own and their loved ones’ “care languages” to create inter-abled care webs in which everyone can get what they need without harming others and getting caretaker burnout: “When I think of the care webs I am a part of that mostly work, they are a complex moment-by-moment dance of figuring out what we need that is a lot like consent negotiations in sex,” Piepzna-Samarasinha writes. “Raw embarrassment, messiness, confusion, working through shame at needing something (or anything), figuring out what I might need to even begin to ask for.”

Piepzna-Samarasinha also writes about the necessity of employing “a diversity of care tactics” so people can, for example, seek help chasing a referral from a doctor to another doctor to the insurance company and back again, or assistance applying for financial aid from organizations such as the National Organization for Rare Disorders (NORD) to help offset the costs of medication, diagnostic testing, travel assistance, and caregiver respite.

When the COVID-19 pandemic began in 2020, mutual aid and collective care became even more important for people with disabilities, including people with rare diseases. Whether it’s nondisabled people offering rides, helping call doctors or email insurance companies, or assisting with documentation and organization, advocacy networks—no matter how small—have become essential for rare disease patients.

In 2022, disability-justice activist Alice Wong wrote about a traumatic, two-week ICU experience that ended with her family expending great financial and personal resources to prevent her from having to move to an inpatient facility: “The safety net is not a net!” Wong wrote. “It’s a big fucking hole.” Without Wong’s family advocating for her, she would have had few choices for continued care: “The system drives people toward institutions,” she wrote. “It is designed to segregate expendable and ‘non-productive’ disabled and older people like me. Out of sight, out of mind.”

Advocacy networks can help patients fight for their needs with insurance companies, which are often quick to dismiss medications that are “too expensive” or treatments that are “not medically necessary.” They can work with NORD to launch local registries, promote or host funding drives for patient-focused drug development, and work directly with existing disability-rights organizations to streamline processes and/or build out their volunteer base.

Durán, like Wong, relies heavily on her nondisabled family members for help with daily tasks, which can include bringing her food and water or cleaning her room (the latter which she pays them to do). “As disabled people, we’re already grappling with our health and it already bleeds into every aspect of our lives,” says Durán. “If we had nondisabled allies caring about accessibility or ableism at any capacity and advocating on our behalf, or just calling out ableism or inaccessibility even when we’re not in the room, I think it would make a world of a difference, especially because I think a lot of disabled people already face a lot of burnout because of our health or lack thereof.”

Highly visible advocates like Durán and Edwards use their platforms to educate their followers, but ultimately they shouldn’t be tasked with radicalizing nondisabled people into confronting and seeking to improve the medical system. “No one is immune to becoming disabled,” Durán points out. “It can happen to quite literally anyone.” If that doesn’t radicalize nondisabled people, perhaps nothing will.