ArticleScientific reports2024
Invisible patients in rare diseases: parental experiences with the healthcare and social services for children with rare diseases. A mixed method study.
Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed.
- Management of plexiform neurofibromas in neurofibromatosis type 1: An Italian Delphi consensus.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- The social construction of the "good doctor": Expectations of physicians among adults with NF1.Journal of community genetics · 2026Article
- Perceived Relational Harm Across Children's Disability Constellations in Parent-Professional Interactions.Child: care, health and development · 2026Article
- Association between a diagnostic journey in Angelman syndrome and caregivers' quality of life.Journal of neurodevelopmental disorders · 2026Article
- Exploring the Illness Experience of Patients with Central Nervous System Hemangioblastomas in Von Hippel-Lindau Disease: A Qualitative Study.Healthcare (Basel, Switzerland) · 2026Article
- "We are ambassadors, we are advocates": rare disease patient advocacy groups as knowledge brokers across health and social systems-a qualitative study from Poland.Frontiers in public health · 2026Article
- Argo Delphi consensus statement on red flags and clinical gateways towards rare disease diagnosis.Scientific reports · 2025Article
- Validation of the Zarit burden interview for Polish caregivers of individuals with rare diseases: a multidimensional approach to assessing caregiver burden.BMC psychology · 2025Article
- Exploring the experience of communication in healthcare settings with parents of children with a rare genetic condition: "It's the more negative ones that you remember".Journal of genetic counseling · 2025Article
- Rare disease, common struggles: quality of life, caregiver burden and financial wellbeing of family caregivers in Poland.Scientific reports · 2025Article
- The impact of 22q11.2 deletion syndrome on caregivers: assessing quality of life and burden.Orphanet journal of rare diseases · 2025Article
- Caregivers' experiences and challenges of the diagnostic odyssey in Dravet syndrome.Orphanet journal of rare diseases · 2025Article
- Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases.Scientific reports · 2025Article
- (Not) "just your nature". Diagnostic journeys of adults with neurofibromatosis type 1 in Poland.Frontiers in genetics · 2025Article
- Transition services in 22q11 deletion syndrome: Hit or miss.Health care transitions · 2025Article
- Quality of life and caregiving burden associated with parenting a person with Duchenne/Becker muscular dystrophy in Poland.Orphanet journal of rare diseases · 2024Article
- Navigating the Unique Challenges of Caregiving for Children with Rare Diseases: Are the Care Experiences of All Caregivers the Same? A Focus on Life-Limiting Rare Diseases.Journal of clinical medicine · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This study explores the experiences of Polish caregivers of children with rare disease (CRD) with health care and social services for CRD. A mixed-methods approach was employed, using an open-ended questionnaire with a convenience sample. Quantitative data presented through descriptive statistics, were complemented by thematic analysis applied to qualitative responses. Responses from 925 caregivers of 1002 children with CRD revealed that the duration of the diagnostic journey varied, spanning from 0 to 18 years, with an average time of 1.7 years. Similarly, the average number of physicians consulted before receiving the correct diagnosis was 4.8. The Internet was basic source of information about children's disease. Although caregivers were to some extent satisfied with the quality of health care for CRD, they complained at the accessibility of health care and social services, physicians' ignorance regarding RDs, the lack of co-ordinated care and financial and psychological support. To break the cycle of the diagnostic and therapeutic odyssey that may aggravate the condition of CRD, cause parental stress and financial burden there is a need to change our view on CRD from cure to family-oriented care. Multifaceted challenges and needs of CRD families should be prioritized.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.