We spoke to Katia Moritz, clinician, filmmaker, and patient advocate about her film Undiagnosed: Medical Refugees, to learn more about what it means to live with an undiagnosed genetic condition. 

“I woke up and I was feeling so sick,” Katia recalls. “I had a fever, I had pain everywhere, I felt like I was impaled by a dagger, I felt like I had an elephant sitting on my chest. One day goes by, two days go by and three days, and I can’t wake up, I’m sleeping non-stop, I’m very sick. And that’s when my journey started. That condition became episodic.”

Over the years Katia’s condition has developed, leading to a range of health issues including peripheral neuropathy, oesophageal and vocal cord dysfunctions and pulmonary problems. “I had all these different problems,” explains Katia, “and they were all related, all evolving into different problems, and we couldn’t identify where they were coming from.”

For three years Katia was stuck without a diagnosis, being passed around different physicians trying to link her symptoms together. “I realised that this is weird situation, because when you don’t have a diagnosis doctors can’t really help you. You get passed around, and then once they don’t know what you have you’re kind of on your own. The medical system is not prepared for cases like ours.”

“I felt I had to open up, I’m going to die here, I was really really sick. And I realised, oh my gosh, that there were millions of people, they estimated 315 million people around the globe. If you go online and if you look at the research and if you look at the time it takes for a patient to be diagnosed with a rare disease: seven and a half years in the US. That’s a lot of people sick for a long time without diagnosis.”

As a clinical psychologist, Katia has almost naturally been drawn to education and advocacy. She specialises in childhood anxiety disorders, after leaving her native Brazil to pursue a career and a PhD in the United States. She is now the Clinical Director of the NeuroBehavioural Institute in Florida, which she co-founded with colleague Dr Jonathan Hoffman. “The interesting thing for me is, as a clinician, I felt like, well I need to do something about this,” Katia says.

“I just don’t want my children to see me this way, and I don’t want to go down without doing something, and the only thing I know what to do with my life is try to help other people. That’s why I chose the career of a pathologist, because I really like to go ahead and make an impact on someone’s life. I decided I needed to do something about the undiagnosed population.”

“Really this is an issue that people are not talking about, people are not realising how many of us are out there. People are dying and no database is storing their information. Medicine is being affected, because how do you know the new diseases, how do you make new discoveries, if you’re not saving the data from undiagnosed patients?”

But how to bring this invisible patient community into the public eye? Through her clinical work in childhood anxiety disorders, Katia was already a published author of guides to help both parents and children understand obsessive compulsive disorder. “I thought about writing a book,” Katia remembers, “and I was like, well you know, unfortunately the world reads so little now and I’m going to spend two years of my life trying to write this and how many people can I really reach?”

“And then, for a crazy reason I met some people. I took a family sabbatical, but I was so sick I thought I was not going to make it. And I met a couple that was moving from Vancouver to California, and they had the camera and the equipment and they knew how to use it. So, I decided to start making the movie.”

The couple that Katia met were cinematographer Nicholas Miller and producer Crystal Shearman, who together own the independent production company Crowbait Pictures. Together they embarked on filming Undiagnosed: Medical Refugees, a film that explores the predicament of adults and children who found themselves without a diagnosis. The film follows six different undiagnosed patients to see what the diagnostic odyssey is like for them and to show the loneliness and isolation that can accompany being undiagnosed.

Life Undiagnosed: Katia MoritzLife Undiagnosed: Katia Moritz

“Being undiagnosed means that you don’t fit any criteria so you don’t even exist,” says Katia. “So, as a patient you don’t exist and the system makes you feel that way. But then there are very few places that are specialised in undiagnosed patients. But even the word, the word ‘undiagnosed’ brings patients so much comfort.”

“One of the moms [involved with the film] said to me that just having the name ‘undiagnosed’ gave us a kind of like legitimacy, you know, like there is a group of people that don’t have a diagnosis and we’re not lying and we’re not making this up and we’re really sick.”

“And I think it is feeling alone, isolated, you don’t know where to go for help, you don’t know who will care for you. There’re so many layers to being undiagnosed and it’s so hard to explain. If you lose a day of work because you have, you know Crohn’s disease, your boss says ‘Oh wow, poor you, you have Crohn’s disease.’ If you have no diagnosis there’s no reason why you shouldn’t be at work today when you’re really, really sick.”

“Also, weirdly, you don’t feel like you deserve support, because you’re like, until I know what I have I really can’t ask. I don’t have a support group, I don’t know anybody to talk to, it’s like a sad kind of lonely journey. I didn’t want the other patients to feel that way, and when I realised how many kids were in that situation, it’s one thing is for me to be sick but God forbid that was my child.”

“They feel so alone and so scared, and it’s such a scary journey for them. So, I wanted to do something that could help them, that I could give them that identity and the connection that they didn’t have.”

During the making of Undiagnosed, Katia contacted Dr Isaac Kohane and the team at Boston Children’s Hospital about the CLARITY Challenge (which we featured in the November issue of the magazine). This lead to the second CLARITY Challenge, CLARITY: Undiagnosed, during which Katia and five other patients had their genomes scrutinised and interpreted by multiple international teams in the search for the variants that could be linked to their conditions. Katia describes the project as very positive, even though she didn’t receive a definitive diagnosis. “It gave me so much closure because I don’t feel now that the answer was out there and I wasn’t finding it,” she explains. “I didn’t feel that way before the CLARITY, because I felt what if the answer is right here, what if I can prevent the development and the worsening of this condition and here I am, not doing it. All of a sudden, everything changed and I felt so much better about it. That really changed my approach to living my life and the steps that I need to take next, it was really, really helpful.”

Filming for Undiagnosed is now complete, and Katia and her team are moving on to post-production. Through the film, Katia is looking to achieve a number of very specific goals for the community. “The first goal is to make the world aware that this population exists,” she says. “To really give this population an identity.”

With an identity and a definition, Katia believes undiagnosed patients will move more easily through the system, as doctors develop protocols for handling their cases. For the future, she envisages a medical system that is far better equipped to manage 350 million undiagnosed patients. “There will be undiagnosed clinics, there will be, maybe an expertise in undiagnosed cases, and we’ll have databases that will store this information so we can continue studying and finding new treatments based on patients who have undiagnosed illnesses.”

Living with a rare condition can be isolating and deeply frustrating. But through Undiagnosed, Katia and her team have started to connect an international patient community, to share information and support. The difficulties of life undiagnosed show us just how important it is that we get the integration of genomics into the clinic right.

 

Undiagnosed: Medical Refugees is set for release later in 2016, and a ten minute preview of the film along with more information about the project is available on the website (www.undiagnosedfilm.com).

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