Patients who suffer from acute hepatic porphyria (AHP), a rare genetic disease characterized by intense attacks and lingering symptoms, know when something is wrong.
Common symptoms include nausea and vomiting, muscle weakness, fatigue and rapid heartbeat. While those symptoms are immediate and recognizable, receiving an accurate diagnosis can often take up to 15 years.
“Two of Me: Living with Porphyria,” a documentary released in February, examines the lives of seven people living with AHP and highlights the challenges and social isolation that can result from the misdiagnosis of a painful genetic disease.
The film was directed by Emmy-nominated filmmaker Cynthia Lowen and sponsored by Alnylam Pharmaceuticals in a bid to bring greater awareness to AHP and close the gap between experiencing symptoms and receiving an accurate diagnosis.
While AHP symptoms often mimic other medical conditions, patients are ultimately the experts of their own bodies and need to have their voices incorporated into their treatment plan, said Genie Dubuk, VP and rare disease business unit head at Alnylam.
“It’s our hope that by empowering and engaging people with AHP, we are able to provide educational content and resources that can help patients have their voices heard and get these patients diagnosed sooner than the 15 years that we typically see,” she added.
Beyond the physical burden of AHP, which originates in the liver and ravages the rest of the body, the documentary underscores the immense mental and emotional turmoil wrought on patients. Many disengage with their communities; in the film, one patient discusses how he considered a suicide attempt due to the pain.
By raising awareness of AHP and the impacted patient population, Dubuk believes more patients can realize that they have a community that understands their condition – and, as a result, no longer resign themselves to suffering in silence. In the film’s wake, she hopes that more patients will advocate for themselves, and disease awareness in general.
“The patients are the experts in their experiences. The more we can listen, the more we can truly seek to understand, be a part of the conversation and allow the experiences to speak for themselves,” Dubuk said. “We saw an overwhelming response from patients when we introduced the documentary, and what we heard from them was that they felt validated and saw themselves in these patients.”
Watch the documentary here.