was imminent, and they wanted to capture her life before and after the moment of certainty. Two years later, they were still waiting. Moritz was no closer to an answer than when they started shooting, but in that time they journeyed across the US to film five different families living in limbo as they seek the same answers as Moritz. Travelling to 20 cities over the course of 18 months, the team gathered more than 300 hours of footage, and with more shoots still planned, they expect to be sifting through 400 hours by the time they’re through. Interviewing a wide range of experts – doctors, technologists, psychologists – as well as crafting intimate portraits of affected patients and their families, the crew rode a rollercoaster of alternately tragic and life‑affirming narratives. “The subject of our documentary does tend toward heartbreaking stories,” says Miller, “stories of people and their families fighting almost Sisyphean obstacles. But it’s through these difficulties that people find enormous and unexpected strength.” “They had different conditions and symptoms,” adds Moritz of the many patients they interviewed, “but they all have something in common: even though many of these patients are struggling with very serious and life threatening medical symptoms, they do everything they can to function and balance their lives to be as normal as possible. The children go to school and go away on vacations and the adults try to continue to function and enjoy life.” More than a search for cures, the struggle of the undiagnosed is shadowed by this complex routine of hope and despair. One mother the team profiles lost her son before his first birthday, but had saved several tissue samples for further testing. Five years later, she is down to the last sample and has to decide what final test offers the best chance of giving her closure. On the other end of the spectrum, a 16‑year‑old girl endures painful, seizing muscle cramps that have not allowed her a decent night’s sleep in a decade. But sequencing her genome – only a recently affordable procedure – revealed a mutated gene that gave her doctors two pieces of life‑changing information: she would have a normal life expectancy, and an effective medication was available to ease the cramping. “I could see a world of difference in the faces of her and her family since the last time we had visited when the gene mutation was still unknown,” recalls Shearman. “For the first time ever, she was filling out college applications and making plans for her future, something they had never expected she would live to do.” Had these women been linked by a common disorder such as muscular hypertrophy or breast cancer, they might have met through an organization
like the Muscular Dystrophy Association or Ride for the Cure. But this is perhaps the root issue for people suffering from undiagnosed conditions: the lack of a supportive community. Even illnesses such as muscular dystrophy and cancer are actually families of diseases that are united under single banners, which makes it easier Crafting intimate portraits to connect patients, raise funds, and provide a variety of support services. of affected patients and The rare disease population has used their families, the crew this strategy with great effect, increasing their size and their sense of community by rode a rollercoaster of adopting a “rare diseases” persona, rather alternately tragic and than articulating themselves as thousands life‑affirming narratives. of individual diseases with small patient populations. “You have probably never heard of [the gene] NGLY1 since only 17 patients [with a mutation of this gene] have ever been identified,” says Shearman, “but surely you have heard of Rare Diseases. By taking that stance, their collective community has shown that rare diseases are actually not that rare.” While undiagnosed patients have a wide variety of symptoms and potential diagnoses, their numbers are strong as a collective population. “Anyone who is on a medical journey needs support,” she continues, “but the undiagnosed patients don’t have any kind of medical home.” More than a branding issue, the need for a cohesive identity among sufferers of undiagnosed conditions is the key to bringing them together, a concept not lost on the filmmakers. “One of the most important goals of this film is Dr. Moritz with another providing community for the undiagnosed population,” of the documentary’s says Miller. “Many of these people go through their undiagnosed subjects, five-year-old Jeremy. entire diagnostic odyssey not realizing there are others out there that are going through the same challenges.” To address this issue, they organized a weekend “Undiagnosed Camp” in March, 2014, bringing five families from across the country to Utah’s National Ability Center to share their stories and establish a sense of community. “While the illness that affected each family or patient was different,” adds Miller, “there was a deep connection in that they all shared the difficulty of the unknown. Nicholas Miller, An immediate bond was formed between the co-director families that came to the camp, and the beginning of a community was born.” As important as it is to establish such a community, the benefits of uniting the undiagnosed reach far beyond the patients themselves and into the entire health care system. It was research into a rare form of hypercholesterolemia (genetic high cholesterol) that led to the development of statins, a cholesterol‑reducing drug that has become the best‑selling pharmaceutical in history. “If you look at the history of certain medicines like statins, they actually came from studying relatively rare diseases and understanding the genetic basis for them,” says Dr. Dean Li, the Chief Scientific Officer for University of Utah Health Sciences and a contributor to the film. “So the study of rare diseases and finding their genetic link is a critical strategy, not just for the rare disease and the undiagnosed disease individuals. It’s important for all of medicine, and for the treatment Crystal Shearman, of all people.” producer
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