Family’s Struggle with Daughter’s Rare Disease
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The Doctors welcome Doctors staffer Jeff, his wife Joanne and daughter Emily, who was diagnosed with a rare condition which currently does not have a cure.
When she began college, doctors discover that her liver enzyme levels were extremely elevated. She underwent a battery of tests and was finally diagnosed with primary sclerosing cholangitis (PSC), which is a rare, progressive and currently incurable autoimmune disease. It causes bile ducts to become inflamed, which will ultimately lead to liver failure if not treated. Also, there is not a specific PSC medication to treat the condition due to how rare it is.
Watch: Toddler’s Rare 'Hulk' Disease
"It's scary that every day it's getting a little bit worse and there's nothing I can do about it. If anything, this liver disease has made me really prioritize what matters and I would just love to have a cure for this disease, so I can just keep living a good life," Emily says. She goes on to explain that since the disease was caught before the symptoms started that she is taking medication to slow its progression, but unfortunately because the medication is not for PSC, the symptoms will begin eventually.
Gastroenterologist Dr. Su Sacher explains that PSC causes bile to build up in the liver, which can cause damage, scarring, fibrosis and eventually cirrhosis of the liver. Dr. Sacher says that currently, the treatment option is taking medications, like what Emily is doing. She says the best current approach is a liver transplant but acknowledges how complicated and scary this approach is.
Watch: Meet the Toddler with Rare “Hulk” Disease
ER physician Dr. Travis Stork stresses medical treatments are advancing all the time and he is hopeful that there will be advances made for PSC.
Emily says, "I would really like a cure for this disease, even treatment. Something where I know that I can take it and I don't have to live every day knowing my liver is getting worse," adding that she and her family hope to see an increase in funding for the disease.
To learn more about PSC and donate to the cause, visit Pscpartners.org.
