The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening

Background

Those diagnosed with PKU in the early years of newborn screening (NBS) were often discharged from clinic in childhood. Long-term lost to clinic patients may be impacted by untreated PKU and uninformed about current recommendations. We aimed to contact adults away from clinic for 5–50+ years, share current recommendations, offer clinical care, and elicit factors underlying not returning to clinic.

Methods

Former patients were identified and offered a virtual meeting with a physician and dietitian for structured interview and education about current guidelines and treatments.

Results

We identified 53 eligible patients who had PKU and had not returned to clinic in ≥5 years. Of those 53, 27 were successfully contacted, 16 completed the educational intervention, and 5/16 returned to clinic. Reasons for having been away from clinic included discharge from clinic in childhood and inadequate insurance coverage. Experiences varied and some denied negative impacts after diet discontinuation. Individuals expressed a desire for convenient treatments that aligned with overall health goals. Most participants who completed the educational intervention expressed interest in returning to clinic; however, most did not return within the timeframe of the project. All 27 individuals successfully contacted agreed to be re-contacted with future updates or research opportunities.

Discussion

We successfully contacted half of individuals identified as having been lost to clinic follow-up long-term. Limitations included inability to make initial contact, and unwillingness to re-engage by some we reached. Those who agreed to participation desired ongoing PKU clinic and community connection. This experience will inform our process to engage current patients and re-engage those currently lost to care.