New Study Quantifies the Impact of Caring for a Child with Rare Disease PFIC

Emily Ventura

Albireo Pharma announced the publication of a study that evaluated and quantified the impact that progressive familial intrahepatic cholestasis (PFIC) has on caregivers. Understanding this impact has been challenging due to the rare nature of PFIC.

As a rare, pediatric, genetic disease of cholestasis, PFIC is characterized by inadequate bile secretion and often requires liver transplantation. Liver failure and early death are prominent possibilities for patients living with this disease.

The PICTURE study is the first and largest global study to focus on the health-related quality of life (HRQoL) of PFIC caregivers in this way. Results showed a significant caregiver-reported burden on health-related quality of life, impairment of daily activities, reduced sleep, impact on work productivity, career building challenges and relationship strain.

Evaluating Caregivers' Quality of Life

A team of investigators, including Emily Ventura, Chief Executive Director, PFIC Network, conducted the multinational, retrospective, cross-sectional study which included 22 caregivers who were mostly between the ages of 30-49. The average age of the patients was 8.2 years old.

Of the caregivers, 77% were mothers, and most reported fulfillment from their responsibilities but problems with mental and physical health, finances and relationships.

More specifically, 82% reported a strain on their relationships, and 86% reported difficulty sleeping. The median quality of life score of this study was 67.7%.

The median quality of life scores from a separate study on the caregivers of patients with cystic fibrosis were 84.7% for mothers and 89.2% for fathers.

“PFIC is a devastating diagnosis," Ventura said in a statement. "As a mother of a child with PFIC, I could not ask for a greater gift than being my daughter’s advocate. With that said, the PICTURE study reinforces what many of us intuitively know – the challenges of caregiving are ever present and often overwhelming and exhausting."

According to the investigators, no caregivers reported having formal care support.

“From loss of sleep to stress on finances and relationships, PICTURE reinforces that we must recognize the burden this disease puts on families and the importance of providing resources for PFIC caregivers, while continuing to fund research to improve treatment and care,” Ventura continued.

Understanding the Impact on Work Productivity

In addition to caring for their child's needs, 73% of caregivers were employed, with a third (36%) of them reporting a mean productivity loss of 12.9 days over the previous 3 months. This equates to an average of 52 work days lost per year.

Half of the caregivers reported that their career-building efforts were impacted as a result of their child's PFIC. And of those caregivers, 73% stated that their responsibilities either prevented them from working more hours or inhibited the progression of their career.

Due to caregiving needs, 36% of those who had paid employment ceased working and missed an average of 2.8 years of employment throughout their career.

The study included caregivers of children with PFIC 1 and PFIC 2. Investigators noted that a higher number of missed work days was associated with PFIC 2 caregivers (16 days) when compared with PFIC 1 caregivers (3 days) over the previous 3 months.

Investigators concluded that caring for a child with PFIC places a comprehensive and meaningful burden on caregivers that's demonstrated by these data.

"Despite fulfilment from caregiving, the breadth and depth of these responsibilities reduced caregiver reported HRQoL including mental and physical health, productivity, career prospects, sleep, relationships and finances," investigators wrote.

The "Impact of progressive familial intrahepatic cholestasis on caregivers: caregiver-reported outcomes from the multinational PICTURE study" was published in Orphanet Journal of Rare Disease.