When Rare Diseases Aren’t So Rare

When Christy Collins’ daughter was born, the doctors were baffled. The baby’s body was larger on one side than the other, and her skin was covered with unusual birthmarks. The girl had low muscle tone and fluid in her lungs, and her legs felt doughy to the touch. But why? Medical experts could not say.

This was the beginning of Collins’ journey to find her daughter’s diagnosis. A freelance web developer, Collins already had two healthy children from uneventful pregnancies and was completely new to the disability world. Her journey over the next eight months would span multiple clinics, countless websites, and even continents before yielding answers. Just a few decades ago, children with seemingly undiagnosable conditions—children like her little girl—received a catchall label of “multiple disabilities” without further investigation. But things have changed.

Today genetics technologies and digital media capabilities have transformed the landscape for children and families with rare—and sometimes virtually unknown—syndromes. We now learn and share information about these lived experiences in fundamentally different ways than just a generation ago. As a result, people are now able to connect with others who have the same diagnoses or symptoms, simultaneously gaining new understandings of their shared experiences while also raising awareness about previously little-known conditions. Consider the example of myalgic encephalomyelitis (ME; formerly called chronic fatigue syndrome), an illness that received unprecedented media coverage in recent years. Indeed, the very concept of having a rare disorder has never been more common.

Between 2012 and 2014, I heard many stories like Collins’ while conducting my dissertation research on family experiences with rare or undiagnosable disabilities. But prior to my long-term research, my interest in these issues developed during summer fieldwork trips to study disability advocacy in Guatemala. Many of the children I met there had multiple disabilities, as well as complex health needs, but they did not have a clear diagnosis—at least, not as far as anyone knew. Most had an array of sensory, intellectual, and physical disabilities in addition to various health issues. Their cases were complex, but the reasons for their complexity were unclear. As a medical anthropologist, I was fascinated by the seemingly ambiguous roots of these local disability worlds.

The diagnostic ambiguity of daily life that I witnessed during that early research surprised me. I had naïvely anticipated that the patients I met would have fixed labels for their conditions and associated disability advocacy communities—recognized designators like Down syndrome, autism, or even rare but still relatively well-known genetic conditions like spina bifida. Instead, I often encountered shrugs when I inquired about their specific diagnoses; they did not exist.

While families in these communities wanted a diagnosis for their children, they recognized that their lives had to move forward without one. In turn, these families prioritized their shared experiences—both social and medical—over the possibility that they also shared common diagnoses. They preferred to focus on supporting the needs of individuals and their families over offering—or speculating about— medical “labels.” I was intrigued.

I began to look more closely at disability work in the United States and found a small yet burgeoning movement focused on rare syndrome awareness, research, and activism. I simply hadn’t known to look for it before. The infrastructure for this community was growing in unprecedented ways thanks to a rising number of online support groups, social media initiatives, advocacy devoted to specific diagnoses, and even nonprofits serving rare disease and undiagnosed patients in general.

This movement is accomplishing two parallel goals. Increasingly, it is helping people to find diagnoses for their rare conditions by allowing unusual experiences to be widely shared and discovered. But it also, just as valuably, creates a space where those seeking a diagnosis can bond over their common causes and their shared experiences of being undiagnosed. Just as I saw in Guatemala, patients didn’t necessarily need a specific diagnosis to accomplish the goal of no longer feeling alone. In the U.S. and elsewhere, this creates possibilities for belonging that have emerged largely since the early 2000s.

According to the Orphan Drug Act, a 1983 U.S. law designed to encourage the development of treatments for rare disorders, a disease is considered rare if it affects fewer than 200,000 people per year. Many such diseases impact only a handful of people. Most rare conditions have a genetic basis and often take years to diagnose. There are approximately 7,000 identified rare genetic diseases and disorders, with more added each year. In one study published in 2017, scientists found 14 new disorders that caused developmental delays in children—new possible answers for families searching for a diagnosis. According to Global Genes, a leading rare-disease advocacy organization, up to 1 in 10 people in the United States has a rare disease or disorder, and around half of those are children. The organization estimates that 80 percent of the rare disease community has one of 350 rare diseases. The remaining conditions are harder to pin down and include the rarest of the rare. Most of the families I met fell into this sweepingly vague “other” category.

In the case of Collins’ daughter, medical experts were initially unable to provide an accurate diagnosis. They floated several theories, but none stuck. The family began to search on their own, a story I would hear repeatedly in my research. Among families and professionals working on rare disorders, this process is known as the “diagnostic odyssey.” It often involves a combination of multiple specialist visits, misdiagnoses, and extensive research and networking—increasingly online. Collins was no exception.