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Sylvie's Story

At five-weeks-old, Sylvie was in the hospital for brain surgery due to a prenatal condition that had been identified in utero. While she was recovering, her mother Season observed that the young infant seemed to be scratching herself. She was discharged, but returned a few weeks later due to persistent jaundice and continued extreme itching. It was then the Scottsdale, Arizona mother of two knew something was wrong.

“Her doctors gave me four different options of what it could be, but they made a note saying PFIC is the worst of the four. We hope it’s not that one,” she explains. Genetic testing confirmed Sylvie’s diagnosis–the worst-case scenario–a rare disease called progressive familial intrahepatic cholestasis (PFIC).

After receiving a diagnosis from a gastroenterologist at Children’s Hospital Los Angeles she says she “… just felt so bad for Sylvie knowing this would be her life.” PFIC affects one in every 50,000 to 100,000 children born worldwide. “I was grasping at anything that could help her or give me more knowledge about PFIC. I wasn’t in denial. I immediately wanted to learn more and was on board for anything that could help her.”

Children living with PFIC experience severe, debilitating itching, or pruritus, which can affect many aspects of daily life, including sleep. “The itching is constant. She wakes from naps and there is blood all over her bed. She has to be in one-piece outfits, or she will try to lift her shirt to scratch herself until she has open scabs,” Season explained.

While other two-year-olds can be found at Mommy and Me classes, Season says Sylvie is restricted from group activities because she can easily get sick, and this worsens her itching. Sylvie instead loves dancing with her mom, who was a professional ballerina and now teaches dance. In addition, Sylvie spends time visiting friends and family, and loves playing with her big sister, Cosette.

Season is concerned about Sylvie’s future with PFIC. “I was in shock because I like to use Google, which told me that every kid with PFIC needs a liver transplant by age 10… and she had just had brain surgery,” she says.

There are good days and bad days for Sylvie and her family. Season recommends finding support from others online who also live with PFIC. “I tell other moms to stay calm because there are people out there who want to help. I had a sense of what was going to happen because I joined a PFIC Facebook group with moms ahead of me in this process. They helped guide me through what to expect,” she adds.