Life with a rare, chronic and 'invisible' illness
Posted: May 06, 2020 | Word Count: 646
Not all diseases leave visible marks on patients; “invisible” symptoms, like pain, may be hard for others to understand and difficult for doctors to explain with a diagnosis. As a result, patients can experience intense stigma, judgment and doubt from their communities while they desperately seek support. A new platform, “Voices of AHP,” aims to break down this stigma by sharing candid stories from people living with acute hepatic porphyria (AHP), a family of rare, genetic diseases, to empower people living with the disease and encourage anyone who may be undiagnosed to recognize the symptoms and discuss them with their doctors.
AHP is characterized by potentially life-threatening attacks and for some, chronic symptoms that negatively impact quality of life. Severe, unexplained abdominal pain is the most common symptom, occurring in more than 90% of people who experience AHP attacks. Patients with AHP can also experience nausea, vomiting, seizures and anxiety, as well as pain in other parts of the body such as the limbs, back or chest. These nonspecific symptoms are often associated with more common conditions, leading to misdiagnosis and/or delays in diagnosis for up to 15 years. An estimated 5,000 patients in the U.S. and Europe are currently diagnosed with AHP and experience one or more attacks each year and, although their individual experiences are unique, their diagnostic journeys and daily lives with AHP are marked by similar challenges.
Growing up, Nathan suffered from abdominal pain, fatigue and recurrent vomiting, leaving him unable to participate in school activities like gym class alongside his friends. He also experienced light sensitivity, which aggravated his symptoms and caused him to stay secluded indoors. As his symptoms persisted, he desperately sought an explanation — he traveled across state lines to be tested for different diseases, underwent multiple unnecessary surgeries and was even diagnosed with a mental illness when doctors couldn’t determine the physical cause of his pain. After years of searching, and thanks to the partnership of a committed and supportive doctor, Nathan was finally diagnosed with hereditary coproporphyria (HCP), a type of AHP, at 31 years old.
Despite the difficulties associated with his rare disease, receiving a diagnosis set him on a path to more effectively manage his attacks and symptoms. “I was so relieved to finally be able to name my condition. It changed my life,” says Nathan.
Megan recalls a similar feeling when she received her AHP diagnosis after years of fighting to find an explanation for her attacks, which she describes as “the most painful thing I’ve ever endured — not just physically, but also mentally and emotionally.”
From the time she began experiencing symptoms in her teens, Megan saw at least two dozen specialists and received multiple misdiagnoses, including multiple sclerosis and endometriosis. The longer she went without answers, the more people in her community doubted her — leaving her feeling even more alone. Refusing to give up, she and her mother found a doctor who examined her entire medical history and eventually tested her for AHP. Receiving a diagnosis was validating, giving her the support and tools to manage AHP and regain some control in her life.
According to Megan, feelings of loneliness still occur, “because nobody else around me can truly empathize with my particular mix of symptoms.” But being able to share her experience with other patients has made her journey “worth it.”
Today, Nathan and Megan avoid triggers for attacks and manage their symptoms. They have found strength in connecting with other people living with AHP, and use their stories to advocate and raise awareness of AHP and the power of perseverance in living with this rare disease.
To learn more about Nathan and Megan’s stories as part of the “Voices of AHP” video series, and to access educational resources about the symptoms and management of AHP, visit www.PinpointAHP.com.
A message from Alnylam Pharmaceuticals