How One Rare Disease Organization Boosted Another

Rare disease patients often find support through their interactions online with others who are wrestling with the complexities of the same conditions, but there’s nothing like face-to-face contact.

Photo: Cedar, the daughter of Emily Ventura

For a fledgling rare disease group, though, putting together a conference for patients can be challenging without having the infrastructure and resources in place. Plus, attracting researchers and physicians with an interest in their condition takes a fair bit of organizational muscle to pull off.

The PFIC Network stumbled on a good solution when it held its first family conference last month by piggybacking on a better-established rare disease organization focused on a related condition. As such, it points to how, through collaboration, a small group early in its development can take an important step forward by building a relationship with groups focused on related conditions.

Emily Ventura’s involvement in the world of rare disease began five months after the birth of her daughter Cedar. Cedar was often irritable and developed swelling and bruising on her back and shoulder.

When Ventura brought Cedar to the emergency room, she was in liver failure and sent to the intensive care unit, where she was eventually stabilized. When she was discharged from the hospital, she was left without a diagnosis. It would be another month before a liver biopsy revealed she had progressive familial intrahepatic cholestasis type 2 (PFIC2).

PFIC is a rare and progressive genetic liver disease that results in poor bile flow and an inability to normally metabolize and cleared in the liver. As a result of a buildup of  metabolites, people with the condition face liver failure at an early age and may require a liver transplant. It is a life-threatening condition with several subtypes. It leads to cirrhosis and liver failure within the first ten years of life. For patients with the type 2 form of the condition, there is an increased risk of developing liver cancer.

In Cedar’s case, the condition also caused an insatiable itch all over her body. She would often scratch to the point of bleeding, but scratching provided no relief. By age 5, Cedar had a liver transplant. Now 7, she’s doing well today. But she will need to remain on immunosuppressants and steroids to prevent her antibodies from attacking her new liver.

When Ventura first learned of her daughter’s diagnosis, she had few places to turn for support. She did, however, manage to find a Facebook page that connected her to a group of other PFIC families. When the woman who had created the page and maintained a website of resources could no longer sustain the work, she asked for help. Ventura offered to do so, and she and other families soon came to realize a formal organization was needed. In September 2018, the PFIC Network obtained its nonprofit status. Ventura serves as president.

The Alagille Syndrome Alliance invited the PFIC Network to participate in its conference in June in Cincinnati. Alagille syndrome is a condition that also involves blockage of the flow of bile. It was the first time PFIC families from around the world had the opportunity to come together for an event that included providers, researchers, and advocates.

“We’ve been talking with each other through Facebook. But to see somebody face-to-face and look at them and say, ‘You are going through exactly what I’ve been going through’ when you haven’t had any connection with anyone other than your family who understands that for seven years, it is pretty breathtaking.”

In all, 22 families from across the United States and Canada, including two families that had recently moved from Europe to the United States, attended the conference. The meeting energized the attendees and many of the families expressed an interest in becoming involved in advocacy. It also allowed Cedar and other children with the condition to connect with other kids who were going through the same thing in living with the disease.

“It was a powerful experience for both me and my daughter. She was also able to meet a handful of other kids and they really connected through their disease and diagnosis. I think it’s really important that she’ll have those connections to refer to as time goes on,” said Ventura. “It opened everyone’s eyes to how important it is to raise awareness and how important it is to participate in research and advancement opportunities.”