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Girl with rare disorder meets kids like her for first time

In this Thursday, June 20, 2019 photo, Cedar Ventura, 7, poses for a photo with her mother, Emily Ventura, at the Lexington Herald-Leader offices in Lexington, Ky. (Ryan C. Hermens/Lexington Herald-Leader via AP)/Lexington Herald-Leader via AP)
In this Thursday, June 20, 2019 photo, Cedar Ventura, 7, poses for a photo with her mother, Emily Ventura, at the Lexington Herald-Leader offices in Lexington, Ky. (Ryan C. Hermens/Lexington Herald-Leader via AP)/Lexington Herald-Leader via AP) AP

Cedar Ventura was diagnosed at four months old.

"She was always a fussy baby," Cedar's mother, Emily Ventura, recalled. "We had her in and out of the doctor's office, and they couldn't ever really find anything wrong with her."

Within the first few months of her life, Cedar had an ear infection. She was prescribed a dose of antibiotics — nothing out of the ordinary — that she began to take. Then, while visiting family outside her hometown of Beattyville, Cedar "developed bruising on her back." Soon after, her shoulder swelled. The reactions were "nothing major," but they did not go away, either. Ventura proactively checked Cedar into a hospital for a checkup.

"And she was pretty much right on the verge of going into liver failure. She was internally bleeding — which is where the bruising came from — and it wasn't apparent as to why," Ventura said.

After a few tense days in the pediatric care unit, Cedar was released, and her family was referred to a specialist in Cincinnati. About six weeks later, they were given a diagnosis.

"It was scary," Ventura said. "The doctor that came in said, 'Cedar has progressive familial intrahepatic cholestasis. What questions do you have?'"

They had many questions.

"'What does that mean? What is it? What does that mean for her life? Is it gonna get better? Is it not?'"

At the time, there was little public information about progressive familial intrahepatic cholestasis, or PFIC. On the day of the diagnosis, an entire team of physicians assisted in offering options for Cedar going forward. Ventura was still reeling.

"In that first day, you're still absorbing everything. You hear 'medicine,' and you hear 'possibility of surgery.' You hear 'lifelong itching.' You hear 'possible liver transplant.' And you're just overwhelmed with: 'Oh... so this is a serious disease.' You don't take in the rest."

The weeks that followed Cedar's diagnosis were a precarious balance of research and normalcy. While Ventura took "a deep dive" into understanding her daughter's rare genetic disease, she managed her baby's daily life as naturally as possible.

"You're trying to take in this heavy, heavy diagnosis, but you also have a baby that's itching all the time," Ventura said. "I was a first-time mom just trying to get through daily life as well."

That was nearly seven years ago.

When Ventura talks about her daughter's disorder now, she pronounces it easily: PFIC, P-fic, with no hesitation. One online search will confirm that information about PFIC remains scarce, but there has been progress. Some of that slow march toward awareness and understanding has been undertaken by Ventura herself, who now co-leads the PFIC Advocacy Network, an organization aiming "to improve the lives of patients and families worldwide affected by" the disorder.

One of the organization's goals is to provide families with education about PFIC.

PFIC is a genetic disorder of the liver that complicates bile production. Bile formation and transport carries dangerous toxins out of the body, so the lack of its proper buildup and flow can lead to dangerous levels of waste. As a result, patients with PFIC often experience severe itching, lowered weight gain and jaundice.

The disorder comes early in life - according to the Cincinnati Children's Hospital, PFIC generally develops within the first six months of life, and "nearly all children with PFIC will need treatment before age 30."

But treatment is complicated. Most patients with PFIC will take specific vitamin supplements every day. Many of them will go through multiple surgeries, including an operation that repurposes part of the intestine to act as a "biliary conduit" to siphon waste through the body. Quite often, a liver transplant is required.

According to the PFIC Advocacy Network, the disorder affects fewer than one in 100,000 people worldwide.

Because of PFIC's rarity, affected families are "pretty isolated from each other," according to Ventura. For the first seven years of her life, Cedar had never met another individual with PFIC, much less another child.

That changed on June 21, 2019, when Cedar and her mother visited Cincinnati for the first PFIC Network Family Conference.

There, 22 families affected by PFIC gathered to discuss their experiences with one another and offer support. Several providers, researchers and advocates attended the conference as well, offering new information about nutrition, treatment options and the different types of PFIC.

"It's all (information) we've heard from our own physician teams, but the amount of depth that these presenters were able to go into gave everybody extra insight (and) hope in terms of, 'oh, there are people who are trying to answer these questions,'" Ventura said.

Some physicians in attendance made quite the trip for the conference, with one flying in from California. Meanwhile, a couple of families traveled from Canada. One man flew from Italy.

Most of the attending families were recruited through a PFIC Facebook group that currently sits at over 400 members, many of who live outside the United States. Months ago, when Ventura made a post suggesting the possibility of a conference, the response was overwhelming.

"Right away we had 15 to 20 people say, 'yeah, I would love to be a part of that,'" Ventura said.

At the start of the conference, the families played an ice-breaker. They each answered the question, "What do you hope to get out of this conference?"

For Ventura, the goal was support.

"I had achieved it in the first five minutes we were there just by meeting everybody," Ventura said.

As for Cedar, an "instant connection" sparked.

"All the other kids there took medicine. All the other kids there were itchy," Ventura said. "They were just normal to each other. They were able to just . . . play and be kids."

In 2017, when she was five, Cedar was placed on a liver transplant list. At the time, her blood work and regular checkups suggested she was "trending towards liver failure." Although she was placed relatively low on the list of priority, Cedar was chosen for transplant only two weeks later. Ventura described the experience as a lucky one.

"It doesn't happen that way for everybody," Ventura said. "That's just the way her process came about. We were fortunate."

Balancing day-to-day life and PFIC treatment can still be difficult. Cedar has checkups every three months, and plenty of medicine to take on the other days. But she's adapting. She can even take six pills at once — although Cedar insisted that only two of them are "big" pills.

Regardless, Ventura said her daughter is a rockstar.

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