Listen to “Rare Disease Day is February 28thIT MAY BE AN “INVISIBLE ILLNESS” Yet One Major Symptom Remains Relentless Hear from Former…” on Spreaker.
Primary sclerosing cholangitis (PSC) is a rare liver disease characterized by progressive inflammation and destruction of bile ducts, which may lead to fibrosis, cirrhosis, portal hypertension, specific cancers, and ultimately liver failure.1
PSC is estimated to affect 29,000 people in the United States and 236,000 people in Europe.2,3 Additionally, one in every 10,000 people worldwide is diagnosed with PSC.4 The median age at diagnosis is approximately 35 years, and approximately 70% of PSC patients have inflammatory bowel disease, principally ulcerative colitis.5,6
The cause of PSC is not completely understood but it is thought to stem from genetic as well as environmental factors. A significant symptom of PSC, 91% of patients suffer from a severe and unrelenting itch, clinically referred to as pruritus, which can deeply impact a person and their quality of life.7
As a former NCAA All-American Hockey Player, and three-time national champion with the University of Minnesota Duluth, Julianne Vasichek was at the top of her game when she was unexpectedly diagnosed with PSC. Although she had been experiencing unexplained symptoms for some time, including relentless itch, fatigue and abdominal pain, she never imagined the cause was a rare and debilitating disease.
Julianne spent the next seven years managing her disease and staying as active and healthy as possible. Due to the lack of effective treatments to manage her PSC, she underwent an emergency liver transplant. She has found that sharing her story, connecting with others, and spreading awareness bolstered her spirit and gave her a renewed sense of purpose. Drawing on her own experience, Julianne actively engages with other patients while advocating for increased research and PSC community connectivity. Julianne is thriving and is currently the Head Women’s Coach at the College of St. Scholastica in Minnesota.
There is a void of effective therapies for rare cholestatic liver diseases, such as PSC. However, with current ongoing research, there may be options in the future to combat the relentless itch that PSC patients experience other than a transplant.
Join Julianne and internationally trained hepatologist Gideon Hirschfield, FRCP, PhD, as they discuss PSC in an effort to raise awareness about the disease.
Courtesy: Mirum Pharmaceuticals, Inc
#pspartners #mirum
