– Documentary Explores the Physical, Mental and Psychosocial Impact of Acute Hepatic Porphyria (AHP), a Rare, Genetic Disease –
– Viewers Encouraged to “Tell 15” People about Film to Shorten the 15 Years It Can Take to Diagnose AHP –
Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, today on Rare Disease Day announced the premiere of its new documentary, Two of Me: Living with Porphyria, a film chronicling the lives of seven people around the world living with acute hepatic porphyria (AHP), a family of debilitating, rare genetic diseases. Directed by Emmy-nominated filmmaker Cynthia Lowen, Two of Me: Living with Porphyria is a story of human strength, perseverance and survival that calls on others to spread the word about this rare disease, now available on www.PinpointAHP.com.
This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20220228005001/en/
Poster and production credits for Two of Me: Living with Porphyria (Photo: Business Wire)
“Living with AHP can sometimes feel like there are two of me – my energetic and bubbly self, and the shadow of myself I become when I experience AHP attacks and symptoms; the pain is all consuming,” said Ania Kalinowska, narrator of Two of Me: Living with Porphyria who is living with AHP. “By sharing my story with the world, it is my hope that others suffering with AHP symptoms or who are struggling to find a diagnosis feel inspired to continue advocating for themselves and, most importantly, know that they are not alone.”
AHP is characterized by excruciating, potentially life-threatening attacks and, for some patients, chronic symptoms that negatively impact daily functioning and quality of life. While severe, unexplained abdominal pain is the most common symptom of AHP, the disease can manifest in different ways from person to person. Other symptoms of AHP can include nausea, fatigue, anxiety, depression, and pain in the limbs, back or chest, which can occur between attacks. Because AHP is rare and its symptoms resemble those of more common conditions, misdiagnosis is common, and can result in unnecessary treatments, surgeries or procedures. In fact, people suffering can wait up to 15 years to receive an accurate AHP diagnosis. Two of Me: Living with Porphyria aims to raise awareness of AHP and the barriers that exist to receiving a timely and accurate diagnosis by encouraging viewers to “Tell 15” others about the film as part of a global call to action.
“In addition to the devastating physical toll of AHP, it has profound psychological consequences that can affect every part of a person’s life – from relationships to careers to dreams and aspirations. Those who remain undiagnosed may be accused of exaggerating their pain levels or of drug-seeking behavior, or even be told their symptoms are just in their heads,” said Sue Burrell, President, Global Porphyria Advocacy Coalition who is living with AHP. “No one should have to endure what many with AHP experience while searching for answers. I encourage everyone to watch this film and share it widely so we can raise awareness of this disease and shorten the time it can take to obtain an accurate AHP diagnosis.”
“We at Alnylam are so inspired by these individuals’ stories and join them in their unwavering determination to create a better world for the next generation of people living with AHP,” said Tiffany Patrick, Head of Global Patient Advocacy and Engagement at Alnylam. “We extend our deepest gratitude to those who participated in Two of Me: Living with Porphyria for sharing their stories in such an intimate and profoundly human way.”
Acute hepatic porphyria (AHP) refers to a family of rare, genetic diseases characterized by debilitating, potentially life-threatening attacks and, for some patients, chronic manifestations that negatively impact daily functioning and quality of life. AHP is comprised of four subtypes: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and ALA dehydratase-deficiency porphyria (ADP). Each type of AHP results from a genetic defect leading to a lack of certain enzymes needed to produce heme in the liver, which leads to an accumulation of porphyrins in the body to toxic amounts. AHP disproportionately impacts women of working and childbearing age, and symptoms of the disease vary widely. Severe, unexplained abdominal pain is the most common symptom, which can be accompanied by limb, back, or chest pain, nausea, vomiting, confusion, anxiety, seizures, weak limbs, constipation, or dark or reddish urine. AHP is life-threatening due to the possibility of paralysis and respiratory arrest during attacks. The nonspecific nature of AHP signs and symptoms can often lead to misdiagnoses of other more common conditions such as gynecological disorders, viral gastroenteritis, irritable bowel syndrome (IBS), and appendicitis. Consequently, on a global perspective, patients with AHP can wait up to 15 years for a confirmed diagnosis. In addition, long-term complications and comorbidities of AHP can include hypertension, chronic kidney disease or liver disease, including hepatocellular carcinoma.
About Alnylam Pharmaceuticals
Alnylam (Nasdaq: ALNY) has led the translation of RNA interference (RNAi) into a whole new class of innovative medicines with the potential to transform the lives of people afflicted with rare and prevalent diseases with unmet need. Based on Nobel Prize-winning science, RNAi therapeutics represent a powerful, clinically validated approach yielding transformative medicines. Since its founding 20 years ago, Alnylam has led the RNAi Revolution and continues to deliver on a bold vision to turn scientific possibility into reality. Alnylam’s commercial RNAi therapeutic products are ONPATTRO® (patisiran), GIVLAARI® (givosiran), OXLUMO® (lumasiran) and Leqvio® (inclisiran) being developed and commercialized by Alnylam’s partner, Novartis. Alnylam has a deep pipeline of investigational medicines, including six product candidates that are in late-stage development. Alnylam is executing on its “Alnylam P5x25” strategy to deliver transformative medicines in both rare and common diseases benefiting patients around the world through sustainable innovation and exceptional financial performance, resulting in a leading biotech profile. Alnylam is headquartered in Cambridge, MA. For more information about our people, science and pipeline, please visit www.alnylam.com and engage with us on Twitter at @Alnylam, on LinkedIn, or on Instagram.
Alnylam Pharmaceuticals, Inc.
Christine Regan Lindenboom
(Investors and Media)