Participants described an extra workload around everyday life with primary ciliary dyskinesia, or PCD. In the questionnaire, 58% said PCD affected their free time, 54% said it affected their responsibilities and 53% reported extra planning or mental effort.
The reported strain extended to relationships. Family relationships were stronger for 40% and had no significant role for 45%. Among the 189 participants in romantic relationships, 37, or 20%, said they had ended or avoided a relationship, with PCD given as the reason.
Where the pressure showed up
The researchers used two phases. Phase 1 consisted of a focus group and two individual interviews, and themes from that work informed a cross-sectional questionnaire in Phase 2. The qualitative phase included eight participants: four people with PCD and four parents. All four parent participants were mothers.
The questionnaire produced 277 completed responses from 678 cohort participants with valid email addresses, a 41% response rate. Respondents had a median age of 38 years, with the middle half ranging from 22 to 54, and 64% were women. The sample included 225 adults and adolescents, or 81%, and 52 parents.
For adults and adolescents, participation was often accompanied by changes in plans and efforts to conceal symptoms. Seventy-one percent said they adapted leisure or travel activities, 60% reported participation challenges in different settings and 48% said they always or often hid or justified symptoms in public. Hiding symptoms was reported by 53% at work and 45% at school.
A gap between private and public life
Nearly half of adults and adolescents, 49%, perceived PCD as invisible, a view held by 71% of parents. That invisibility sat alongside difficult disclosure choices: 57% said their friends knew the diagnosis and 68% felt comfortable disclosing to a partner, compared with 34% who felt comfortable disclosing at work and 26% at school. Among parents, 29% felt comfortable disclosing at school.
Support varied sharply by setting. Family support was reported by 79% overall, including 94% of parents, while work support was reported by 29%. School support was reported by 32% of adults and adolescents and 41% of parents. Peer support was reported by 34% overall, but 41% had no current contact with other people with PCD and wanted it. Among those in contact, 88% said people with PCD understood their experiences better than people without PCD.
Support does not travel evenly
A multivariable analysis looked at whether perceived work or education support was associated with comfort discussing PCD. Among 147 participants, those reporting that support had higher odds of comfortable discussion, with an odds ratio of 2.38. Its 95% confidence interval, the reported range of uncertainty, ran from 1.18 to 4.91. This is an association, not evidence that workplace or education support caused people to speak more freely.
The analysis did not find signs of an association between work or education support, or family support, and hiding or justifying symptoms in public. Among 121 participants, the reported odds ratios were 0.79 for work or education support and 0.60 for family support, with confidence intervals of 0.37 to 1.68 and 0.24 to 1.51, respectively.
The requests were practical
Participants' leading unmet support needs were practical: financial support for care was identified by 46%, flexibility in work and education policies by 45% and better-trained healthcare professionals by 44%.
The results also resist a simple picture of isolation. Many participants maintained an active social life and integrated PCD into their social identity, although some reported limited participation or changes in how they saw themselves socially.
What the numbers can and cannot say
Because the questionnaire was cross-sectional and the analysis measured associations, the findings describe participants' reports and statistical links rather than establishing cause and effect.
The study was funded by a Swiss National Science Foundation project grant, SNSF 10001934. Most authors also participated in the BEAT-PCD collaboration, which is supported by the European Respiratory Society.
The manuscript is a medRxiv preprint posted on August 27, 2026. It has not been certified by peer review, and its front matter states that it should not guide clinical practice.
Paper data and sources
Original title: Social functioning in Primary Ciliary Dyskinesia (PCD) – a study of lived experience, relationships and support of patients and caregivers
Authors: Fernandez-Rodriguez A, Karavasiloglou N, Gkatzou V et al.
Journal/Repository: Not provided
Status: Preprint, not yet peer-reviewed
First online: 2026-08-27
DOI: 10.64898/2026.08.24.26360722
Original paper · Full text