Families of Children Treated for Rare Diseases Say Long-Term Care Falls Short

Children who survive complex treatments for rare diseases are living longer than ever before, but a new study from the Netherlands suggests that the healthcare systems that saved them often struggle to support them afterward. Researchers at the Willem-Alexander Children’s Hospital of the Leiden University Medical Center surveyed 70 families across three intensive follow-up care pathways—fetal and neonatal intensive care, pediatric blood stem cell transplantation for non-malignant conditions, and cardiac intervention for congenital heart disease—to understand what families actually experience in the years after treatment. The findings, published in the World Journal of Pediatrics, reveal a striking paradox: families rate their relationships with individual clinicians highly, yet many feel abandoned when they try to navigate care beyond the hospital walls.

The medical context behind the study is sobering. Survival and life expectancy after complex treatment for rare diseases during pregnancy, infancy or childhood continue to climb, but cure of the initial disease is not the end of the story. Many children remain vulnerable to acute and long-term consequences that extend well beyond medical outcomes, encompassing psychological, neurocognitive, relational and societal effects that can persist throughout life. Previous research has shown that children treated for rare conditions face similar long-term challenges, including neurocognitive difficulties, attention and stimulus processing problems, and the need for extra support at school. Despite this shared risk profile, effective prevention, early detection and management of these outcomes often remain fragmented across care pathways, the study’s authors note.

To capture what families value, the team adapted a validated general childcare patient-reported experience measure, or PREM, refining it with input from adult and pediatric specialists, psychologists, nurse experts and family representatives who pilot-tested the questionnaire for usability, clarity and completeness. The final instrument included 21 Likert-scale questions rated from one, meaning total disagreement, to five, meaning total agreement, alongside five open-ended questions. Families who had at least one follow-up appointment within one of the three care pathways were eligible, and recruitment ran between April 2024 and June 2025 through a communal patient conference day, a digital newsletter and waiting-room announcements. Of 129 registered participants, 78 completed the questionnaire and 70 responses were suitable for analysis. Families with children aged 12 or older received separate questionnaires for the child and the caregiver, reflecting evidence that children and parents often report their experiences differently.

The quantitative results painted a broadly positive picture. Across all three pathways, response distributions skewed strongly toward favorable ratings. Feeling comfortable with healthcare professionals earned the highest possible top-box score—100 percent—in the neonatal intensive care group and 94.5 percent in the transplantation group. Having enough time with clinicians and being free to discuss concerns and wishes openly also ranked among the most positively experienced aspects of care in multiple pathways. For the cardiology group, comfort with clinicians and openness in discussion both reached 94.4 percent. These findings suggest that the human foundation of care—the trust, empathy and time that clinicians invest—is working well in these specialized centers.

The weaknesses, however, were more revealing precisely because they differed between pathways. In the neonatal group, the most negative ratings concerned designated care providers, with more than half of respondents lacking a single named point of contact, although most said they did not want one, apparently because they felt adequately served by existing contacts. In the cardiology group, the sharpest criticism targeted attention to children’s mental health, which drew a 33.3 percent negative rating, followed by information on long-term effects and attention to complete living situations such as family, school and home functioning, each at 27.8 percent. In the transplantation group, the highest negative scores concerned the wish for a designated provider and support for the transition to adult care, though the young median age of that cohort made the transition question largely theoretical.

The qualitative analysis of 286 free-text responses, conducted using the six-stage thematic approach of Braun and Clarke, uncovered six themes: information provision, care communication and coordination, humanistic care, comprehensive care, additional care and logistics. The information theme proved especially consequential. Families frequently reported missing information about long-term consequences, and one mother of a six-year-old explained that while doctors and nurses had covered the major possible consequences, subtler problems such as disrupted sensory processing and its warning signs were never mentioned—knowledge she believed would have been crucial. The lesson, the researchers suggest, is that families need both in-person explanations during visits and written materials, and that rare or less obvious long-term effects deserve explicit mention.

Communication across organizational boundaries emerged as another persistent sore point. Families appreciated transparent information sharing that they could themselves view, and most found it easy to reach specialists within the academic hospital. But beyond the hospital, the picture darkened. One mother described how reaching clinicians inside the center was straightforward while accessing care outside required negotiating the general practitioner and being left to her own devices. Others reported that primary and secondary care clinicians often lacked knowledge about complex treatments and their consequences because no unified information transfer system exists and expertise outside the specialized center is limited. A 28-year-old transplant recipient put it bluntly: the general practitioner is often unaware of what happens at the hospital, forcing the patient to retell their story repeatedly. This knowledge gap at the periphery of the system, the authors argue, is a structural barrier to appropriate care for children whose medical histories are inherently difficult to interpret.

The humanistic theme, by contrast, generated some of the most moving testimony in the study. Respondents described feeling taken seriously and understood when clinicians actively listened and worked with caregivers as equal partners. Kindness, empathy and compassion were cited as prerequisites for building the mutual trust on which family-centered care and shared decision-making depend. One mother of five-year-old twins recalled the empathy and clarity with which her sons’ diagnosis was communicated, describing how being genuinely heard during a situation in which parents had lost all control helped the family process the experience. Yet the analysis was not uniformly rosy: one mother of a four-year-old felt that more attention was given to her child as a medical object rather than as a person, a reminder that relationship building must be actively maintained rather than assumed.

Perhaps the most actionable insight concerns what the researchers call comprehensive and additional care. Families stressed the need for attention to the psychosocial impact of complex treatment not only on the child but also on parents, siblings and wider surroundings such as school, with one family suggesting preventive measures such as trauma processing resources after treatment. Others described feeling let go of or lost after the inpatient period, spending considerable time navigating the healthcare network alone to find appropriate support. This is not merely a matter of convenience: the study notes that poorer psychological well-being among children and parents is associated with greater care consumption and developmental delays, meaning that unmet psychosocial needs impose real costs on families and health systems alike. From a life-course perspective, the authors argue that unmet neurocognitive and psychosocial needs at early developmental stages can compound over time and shape future health trajectories, so follow-up services must anticipate evolving needs rather than relying on reactive referrals from isolated encounters.

The study is, according to its authors, the first to compare patient and family experiences across multiple care pathways for complex treatments, deliberately crossing the boundaries of siloed, organ-specific disciplines. The researchers acknowledge limitations, including possible recruitment and selection bias favoring families already engaged with the hospital, and the exclusion of families who do not speak Dutch, which may have tilted findings toward more positive experiences. Even so, the conclusions carry clear weight: institutions should prioritize a humanistic approach and relationship building, systematically address long-term psychosocial consequences, and strengthen information provision and comprehensive care networks so that families no longer feel lost. The pediatric oncology field demonstrates that structured integrated long-term follow-up is feasible at scale, offering a template other pathways could emulate. Ultimately, the researchers argue, advancing integrated physical, socioemotional and neurocognitive care contributes not only to event-free survival but to quality of life and true participation in society—the ultimate goal of optimal care.

Subject of Research: Patient- and family-reported experiences with integrated follow-up care pathways after complex childhood treatment for rare diseases

Article Title: Integrating optimal patient-centered care: patient- and family-reported experiences after complex treatment for rare diseases

Article References: Tijssens, F. L., Kies, P., de Ridder, L., de Pagter, A. P. J., van Klink, J. M. M., & the Life-Course Care, Follow-up Research Network (LEEF) (2026). Integrating optimal patient-centered care: patient- and family-reported experiences after complex treatment for rare diseases. World Journal of Pediatrics. https://doi.org/10.1007/s12519-026-01089-4

Image Credits: AI Generated

DOI: 10.1007/s12519-026-01089-4

Keywords: rare diseases, patient-reported experience measures, pediatrics, patient-centered care, value-based healthcare, integrated care pathways, follow-up care, psychosocial support, neonatal intensive care, stem cell transplantation, congenital heart disease, care coordination