Anyone who’s ever been nervous for blood test results or an exploratory procedure can tell you: it’s the not knowing that’s the worst. The mind offers an endless stream of possible outcomes, each scenario worse than the last. You are anchored to your short‑term plans. But you are still expected to function, to go to work, to relax with friends as if you hadn’t a care in the world.
Imagine this scenario writ large – waiting not days or weeks, but years, and potentially a lifetime.
This is what it’s like to be an undiagnosed patient, a category that, according to medical databases that cross‑reference medical disorders, does not even exist. Despite an estimated 350 million people suffering worldwide from rare and undiagnosed illnesses, public awareness of their struggle is almost nonexistent, a phenomenon that prompted Nicholas Miller and Crystal Shearman to tackle the subject in their forthcoming documentary, Undiagnosed.
When Shearman and Miller were studying at UBC, the topic of disease research was the furthest thing from their minds. As undergraduates – Shearman studying music composition and Miller in Film Studies – they had bought a home, established themselves in the local film community, and were planning a family. But in August of 2010, Miller was diagnosed with testicular cancer. With two years left on their visas, they were able to remain in Canada for medical treatment before returning to the United States in 2012. The plan was to set up a new film base in Los Angeles after visiting family in Park City, Utah. But while Miller was receiving follow‑up treatment in Utah, they met Katia Moritz, a doctor who would dramatically change the course of their lives.
Despite an estimated 350 million people suffering worldwide from rare and undiagnosed illnesses, public awareness of their struggle is almost nonexistent.
Moritz is a psychologist and director of the NeuroBehavioral Institute, specializing in treating debilitating anxiety disorders in children and adults. After undergoing a routine endoscopy in 2010, Moritz woke up with a stabbing pain through her chest, a syndrome doctors couldn’t put a name to, leading her to fight two battles: one against her own body, and one against a medical system that has no infrastructure for monitoring and treating unknown illnesses. There was no database for tracking undiagnosed disorders. No way for doctors to research similar cases. When a patient with an undiagnosed condition died, the information usually died with them, a tragic loss for the medical community as well as others seeking treatment.
“Nick and I were both stunned by her journey and all of the uncertainty that a long‑term undiagnosed patient deals with,” says Shearman. “It is truly a terrifying way to live.” Millions of patients and doctors out there dealing with the same issue meant millions of untold stories, an idea that intrigued the filmmakers. “Being undiagnosed is something that we had never even thought of, and I think that’s true for most people,” continues Shearman. “I expected that when you’re sick, you go to the doctor, they figure it out, give you a pill, do surgery, do treatment… I had no idea that there are people who go for years, decades, and lifetimes without a diagnosis. And this is not a small group we are talking about, it’s hundreds of millions of people.”
Fresh off their ordeal with Miller’s cancer, the couple already had a sense of medical inequality on the mind. Miller had been cancer‑free since leaving Vancouver, but he spent more money on two check‑ups in Utah than he spent on two years of treatment in Canada, something that would have broken the bank if he had received his initial treatment in the US. “Without Nick’s experience of having cancer – and being treated in Canada as a big part of that experience – I’m not sure we would have had enough understanding of how devastating it is to be undiagnosed,” says Shearman, “and I’m not sure we would have endeavoured on this project.”
Crafting intimate portraits of affected patients and their families, the crew rode a rollercoaster of alternately tragic and life‑affirming narratives.
Together, the trio set about documenting the research that Moritz had been compiling for a book. By January 2013, with Shearman producing and Moritz and Miller sharing the director’s chair, they were off and filming. At the time, Moritz was confident a diagnosis for her condition 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 to connect patients, raise funds, and provide a variety of support services.
The rare disease population has used this strategy with great effect, increasing their size and their sense of community by adopting a “rare diseases” persona, rather than articulating themselves as thousands 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.
“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.”
“One of the most important goals of this film is providing community for the undiagnosed population,” says Miller. “Many of these people go through their 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. An immediate bond was formed between the 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 of all people.”
But it’s a long road from a weekend camp to the next major medical breakthrough, a road Undiagnosed has only begun to pave. So far, Shearman, Miller, and Moritz have crafted the film with no additional crew or resources, funding their journey entirely out of pocket. They’ve since gathered $150K in grants and private donations, and are seeking to double that to complete the project, hoping to have a cut ready for film festivals by fall of 2015.
The timing seems right. The National Institutes of Health in the US has the capacity to evaluate only 50‑100 undiagnosed cases per year, which recently led them to commit $43M to franchise their Undiagnosed Diseases Program to six academic medical centers around the country. And with the exponential growth of social media, patients who once suffered in silence are now able to share their symptoms and connect with others.
But for the filmmakers, nothing can be better than seeing results face‑to‑face. “After two years of filming, we are actually getting to see some of the children and adults progress,” says Shearman. “Some have found answers, others have found community support or have been inspired to create their own ‘undiagnosed’ support groups. Getting to know these passionate people to the point of calling them friends and being able to give their struggles voice and validation – that has been the greatest reward.”
To find out more or donate, visit: undiagnosedfilm.com and follow @UndiagnosedFilm on Twitter.