SAVE JON: What it means to have a rare disease like PSC

SAVE JONUncategorized2 Comments

jon NIH blog pic

Most people have never heard of Primary Sclerosing Cholangitis, or PSC. When Jon was diagnosed with PSC at age 21, he learned two things: first, most PSC patients eventually need a liver transplant to survive, and second, until you get sick enough to require a liver transplant (which is really sick), there isn’t a whole lot to do. Right now there are no medicines that PSC patients can take that will slow the progression of their disease.

But what exactly is PSC? PSC drives the mission of our organization, so today we would like to share with you information about this rare disease and why it is so important that we are building a new patient centered-approach to curing it.

PSC is a rare bile duct and liver disease that can result in infections, cancer, and liver failure. With an average of 10 years between PSC diagnosis and liver failure, this is a unique condition: No cure exists, and what is currently considered the best “treatment” – a liver transplant – can result in complications that put the patient’s life at risk. Although it’s considered a “rare” disease, PSC affects approximately 1 in 10,000 people worldwide – or about 30,000 to 50,000 people in the United States. Because this disease is rare, it can take a long time for doctors to recognize it and patients to get a diagnosis.

When Jon first became ill with PSC, he became jaundiced – meaning his skin and eyes turned yellow – and he suffered from an extreme form of itching, called pruritus. Everywhere he went, people were able to tell just by looking at him that something was very wrong. Patients with PSC can have such severe itching that they are unable to sleep at night, scratch their skin to the point of drawing blood, and in some tragic cases, are driven to commit suicide.

Patients with PSC – like Jon – end up spending a lot of their time managing their illness. In some cases, they see several different kinds of specialists, undergo procedures and diagnostic tests, get infections or other complications that land them in the hospital, and in some cases, develop cancer. All of that before they even get to the process of getting a liver transplant.

SAVE JON Booklet Pictures.pptx

PSC is life-changing, and unfortunately it is life-ending for too many patients. SAVE JON is working to provide new solutions for patients in this situation, but also to change the world rare disease patients live in. Patients suffering from rare diseases need hope that someone cares and is working on their problem. They need their communities to understand their disease and the kinds of issues they have to deal with on a daily basis. They need to feel like they’re not alone in their struggle to survive.

To anyone who suddenly finds themselves facing an unknown rare disease – like Jon did five years ago – we get it and we’re here for you. We are building a world where brilliance is brought to bear in your hour of need. We are here to SAVE JON.


2 Comments on “SAVE JON: What it means to have a rare disease like PSC”

  1. Cait

    I’m a former PSC-er. Diagnosed at 19yo in 2005, first (living donor) transplant 10/11/11, followed by a cadaveric transplant one week later. It’s such a strange disease progression, since one needs to wait to get sicker before “treatment” options are considered (you’re listed or searching and testing for living donors). I like to think I can stand as encouragement that diagnosis of PSC doesn’t mean it’s the end. I became very ill, but after tx, I’ve married and had a baby. Please remember hope.

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