PFIC. Rare Disease. Real Lives.

Progressive Familial Intrahepatic Cholangitis (PFIC)

RARE DISEASES. REAL LIVES.

When Charles and Rosalie Bonczyk began planning a family, they never planned for the uncertainty, frustration and fear that comes with the effects of a rare disease.

In 1991, Charles and Rosalie welcomed their first child, Michelle into the world. She was healthy, strong and hit every milestone – until age three – when she suddenly spiked a fever. Charles and Rosalie took her to the pediatrician where tests revealed an enlarged liver and spleen. After showing no improvement, Michelle was referred to a liver specialist and after six months, diagnosed with cirrhosis of the liver – but how? How could a three-year-old child suffer from a condition which typically affects adults with end-stage liver disease? While doctors struggled to discover the root cause of her condition, it was clear that Michelle would need a liver transplant to survive.

AN ISOLATED INCIDENT?

Unable to determine the reason Michelle’s native liver failed, doctors assured the Bonczyk’s it was an isolated incident. Thinking they left their troubles behind, Charles and Rosalie started talking about having another child and in 1998 welcomed their son, Charles into the family. Like Michelle, Charles grew up happy and healthy but when he turned 18 years old, he began vomiting blood. Doctors diagnosed Charles with esophageal varices, abnormally enlarged veins in the esophagus and an enlarged gallbladder but considering Michelle’s medical history, the Bonczyk’s wanted doctors to “dig deeper” and order genetic testing.

“I HATE TO SAY THIS, BUT IT WAS A RELIEF”

When the results came back, the Bonczyk family finally had the answers they were looking for – Charles had Progressive Familial Intrahepatic Cholestasis (PFIC) – a rare genetic condition that causes increasingly severe damage to the liver and can lead to cirrhosis and complete liver failure. It was no surprise when doctors tested Michelle and she came back positive for PFIC, too. Rosalie said, “it was a relief to find out the cause of all this. It’s too bad we didn’t know sooner.”

FAST FACTS ABOUT PFIC

• PFIC causes abnormal bile production/secretion in the liver
• Symptoms usually present in infancy or childhood
• An estimated 1 in 100,000 children have PFIC ¹
• While symptoms are manageable and progression can be slowed, there is no cure
• PFIC is divided into three subtypes: PFIC type 1, PFIC type 2, PFIC type 3 ² (Michelle and Charles have PFIC 3)

Michelle had a successful liver transplant at 12 years old. She is currently 30 and working part-time. She says, “I feel good but get really tired. I have to remind myself to listen to by body and not overdo it” PFIC is starting to cause some scarring on Michelle’s transplanted liver but she keeps a positive mindset, “It isn’t bad. At least we know what’s causing it so we can manage it.”

Charles is currently 23 and following in his father’s footsteps working as a mechanic. “I’m learning and working my way up the ladder but I’d love to restore old cars someday – they’re fun to work on and nice to look at.” Unfortunately, PFIC has caused Charles to suffer further complications and he is now in need of a liver transplant. His MELD score does not qualify him for a transplant right now so it could be years before he receives a liver. Rosalie said, “we’re looking for a living donor. My husband and I applied but weren’t a match. I encourage any couple thinking about starting a family to do genetic testing if they can. These diseases are rare but so are the lifetime affects.”

RAISING AWARENESS AND FUNDING RESEARCH

Last month, the Bonczyk Family held a Facebook fundraiser to benefit the American Liver Foundation in honor of father Charles’s, 60^th birthday. They are confident that by raising more awareness and continuing to fund cutting-edge research, we can create a world without liver disease. Michelle said, “It’s nice to be able to share our story with others – it’s rare, like our disease! I really hope it helps someone.” Rosalie added, “ALF has been there for us this entire time. When Michelle was little, I attended the local support group meetings – they were so helpful. I met a lot of great people and learned a lot.”

Thank you for your continued support, Bonczyk Family! We are grateful for your willingness to share your story and help raise awareness about liver disease.

If you or someone you know needs help finding a living donor, check out ALF’s free resources.