Even before northern Scottsdale resident Season DeAngelis gave birth to her second daughter Sylvie, doctors found a cyst on her brain.
Sylvie had brain surgery at 5 weeks old, but this was only the start of her frequent visits to the hospital.
At 5 months, Sylvie was diagnosed with progressive familial intrahepatic cholestasis (PFIC), a rare liver disease affecting about one in every 50,000 to 100,000 live births worldwide, according to U.S. National Library of Medicine.
“We didn’t even know about PFIC until I kept complaining to the doctors that she was super itchy,” Season said. “Then, she was super, super yellow and I knew that only newborns were jaundice. So, I’m like, ‘Why is my 3-month-old turning yellow?’”
In people with PFIC, liver cells are less able to secrete bile, this buildup of bile in liver cells causes liver disease in affected individuals.
Of the five types of PFIC, Sylvie has PFIC Type 4, a less common type; and she currently takes four different medicines to treat it: extra bile salts twice a day, rifampin, a multivitamin, 10-times the normal dose, and lactulose.
With no approved therapies for PFIC, most families opt for surgical interventions, like liver transplants.
But Season vetoed surgery immediately.
Season calls this on-the-spot decision divine intervention.
“We’re Christian, and I believe it was a God thing,” she said. “When she was really bad, [the doctors] at CHLA [Children’s Hospital Los Angeles] said, ‘Do you want to put her on the transplant list?’ ... I was like, ‘I don’t want her to go on it.’ It just kind of came out of my mouth and thank God I didn’t because if she was even on that list and removed, she couldn’t be on this trial.’
In November, Sylvie will undergo a screening process to get approved for Albireo Pharma, Inc.’s A4250 PFIC treatment.
The U.S. Food and Drug Administration granted rare pediatric disease designation to Albireo in June 2018.
“This drug will help the bile excrete normally; it’ll give them the transporter to get it out, so it won’t go back through their blood,” Season explained.
“I think this drug will hopefully be just the start and they’ll just keep making it better and better.”
Season said she is hopeful Sylvie will pass the screening process.
“It’s definitely exciting,” Season said. “We will be like the guinea pig of the PFIC 4 kids. We’ll probably be the only one on it, to my knowledge.”
Albireo is one of two treatments in its third phase; the other is Mirum Pharmaceuticals’ maralixibat.
“There is an immediate need for effective treatment options for children with PFIC currently suffering from the life-dominating manifestations of this disease,” said Robert Squires from the University of Pittsburgh Medical Center Children’s Hospital of Pittsburgh.
Squires added: “The potential of maralixibat to alleviate the intense itch and control elevated bile acid levels associated with PFIC2 could represent an important new option for physicians, patients and caregivers.”
Season discovered Albireo through a Facebook group for parents with PFIC kids.
“What helped me was to not be in denial. I just immediately asked questions,” Season said. “Definitely to get into some type of support group. For me, it was that Facebook group. It’s more just surrounding yourself with knowledgeable people that can help support you.”
To other parents with PFIC children, Season’s advice also includes acting quickly and doing research immediately.
“The first word is ‘progressive,’ so you have to go fast before things get really bad,” Season said.
Sylvie is now 2 years old and Season describes her as a fighter.
“There’s ups and downs, but when she’s not sick and we can keep her comfortable and nice and cool, she’s a little fighter,” she explained. “She’s spunky, and she thinks she rules over her sister. She’s dramatic, but she knows she’s cute, for sure.”
Season also has a 3-year-old daughter, Cosette, who was a year old when Sylvie was diagnosed.
Having two young daughters was hard on Season, who said she rarely slept when Sylvie was first diagnosed.
“The most challenging time for us was when [Sylvie] was diagnosed, but then her blood sugar kept plummeting because her liver was doing so bad. So, I would have to wake up every hour to feed her 24 hours a day.
“I did that for at least three months. I was just a walking zombie, and I have another daughter, so not being able to be present for her was hard,” she said.
Season and Sylvie have made hundreds of trips to both CHLA and Phoenix Children’s Hospital.
Although Season spent most of the time at the hospital alone, she said she has a large support system, including her friends, family and husband.
One friend, Lisa Brian Leone, even set up a GoFundMe in 2017 on behalf of the DeAngelises to help them cover the costs of medical bills.
“I was a dance teacher, so I had 120 students and parents all making ‘Pray for Sylvie’ bracelets, and one of the moms started that GoFundMe page,” Season said. “She put it on for $5,000, and then she was like, ‘People keep asking to give.’”
They raised more than $12,000.
Now, Season continues to raise Sylvie “as normal as possible.”
“We had an amazing pediatrician in Santa Monica who said, ‘She’s going to be out of the hospital one day and then she’s going to be a normal kid. So, you need to make her a normal kid while she’s in the hospital. You need to get on a sleep schedule.
“You need to do all the things that you did with Cosette. You’re doing the same thing with Sylvie, just her room is in the hospital,” Season recalled. “That really helped us get through it, too.”