Lived experiences of parents of children with genetic and neurodevelopmental disorders accessing genetic services in Rwanda: barriers and enablers

Abstract

Background

Neurodevelopmental disorders (NDDs) pose significant challenges in low- and middle-income countries (LMICs), where access to specialized care is limited. In Rwanda, genetic services are centralized; however, little is known about parental experiences navigating diagnosis and management.

Objective

This qualitative study explored the lived experiences of parents of children with NDDs in Rwanda, focusing on diagnostic journeys, barriers and enablers to care, socioeconomic impacts, stigma, resilience, and recommendations for service improvement.

Methods

Semi-structured in-depth interviews were conducted between November 2023 and July 2024 with 30 parents (27 mothers, 3 fathers) of children referred to the pediatric genetics clinic at the University Teaching Hospital of Kigali, Rwanda. Purposive sampling ensured diversity in socioeconomic status and rural or urban residence. Interviews were audio-recorded, transcribed verbatim in Kinyarwanda, translated into English, and analyzed thematically using ATLAS.ti software, following Braun and Clarke’s framework.

Results

Six major themes emerged: (1) diagnostic delays and uncertainty, characterized by prolonged referrals and delayed results; (2) systemic access barriers, including centralization and geographical hurdles; (3) pervasive socioeconomic hardships exacerbating poverty; (4) sociocultural stigma involving supernatural attributions and social exclusion; (5) profound resilience sustained by hope in clinical progress and spiritual faith and compassionate care; and (6) visions for improvement, emphasizing community education, financial support, decentralization, and hybrid telemedicine.

Conclusion

Rwandan parents face structural, economic, and cultural barriers to accessing genetic care, yet demonstrate resilience. Findings highlight the need for decentralized services, community awareness, financial support, and culturally sensitive provider training to reduce diagnostic delays and promote equitable care. These insights inform interventions in Rwanda and comparable LMIC settings.

Introduction

Genetic disorders, encompassing a wide array of rare diseases and more common chromosomal and monogenic conditions, represent a major global public health concern, particularly through their frequent manifestation as neurodevelopmental disorders (NDDs). NDDs are a heterogeneous group of conditions characterized by impairments in cognition, communication, behavior, and motor function that arise during the developmental period. They include intellectual disability, global developmental delay, autism spectrum disorder, and many congenital syndromes with genetic etiology (American Psychiatric Association 2013; Dukuze et al. 2026a, b; Hakizimana et al. 2024; Maulik et al. 2011). NDDs affect an estimated 1–3% of children worldwide and constitute a leading cause of lifelong disability (Maulik et al. 2011; Nguengang Wakap et al. 2020; The Lancet Global Health 2024). Rare diseases collectively impact 300–400 million people globally, with approximately 80% of genetic origin and nearly 70% presenting in childhood, often as NDDs (Nguengang Wakap et al. 2020). These conditions impose profound emotional, psychological, and socioeconomic burdens on families, a multidimensional form of social suffering that encompasses not only biomedical challenges but also cultural stigma, economic hardship, and disrupted family and community relationships (Baumbusch et al. 2019; Kleinman et al., 2010; Von Der Lippe et al. 2022).

Qualitative studies revealed recurring themes of parental grief, isolation, anxiety, and chronic stress, exacerbated by societal stigma that frequently attributes genetic conditions to cultural myths, curses, or parental fault, particularly blaming mothers in patriarchal contexts (Currie and Szabo 2019; De Vries et al. 2020; Marsh et al. 2011). At the same time, a growing body of literature documents important enablers of care-seeking and adaptation, including supportive family networks, compassionate, specialized providers, spiritual coping, peer contact, and emerging digital tools that reduce geographical barriers (Crellin et al. 2023; Kolemen et al. 2021; Lloyd et al. 2023). In sub-Saharan Africa (SSA), stigma is compounded by gendered blame and supernatural causal beliefs, leading to social isolation, family discord, and reluctance to seek care (Groce et al. 2014; Opoku et al. 2023). East African studies from Kenya, Ethiopia, and Uganda similarly highlight diagnostic delays, financial catastrophe, and the protective role of community health workers and faith-based coping (Gona et al. 2015; Marsh et al. 2011; Tilahun et al. 2016).

In low- and middle-income countries (LMICs), including SSA, systemic barriers intensify the burden: limited genetic testing, specialized care, infrastructure, and trained professionals, alongside higher consanguinity rates elevating recessive disorders (Romdhane et al. 2026). Consequently, over 94% of severe congenital anomalies occur in LMICs, a disparity rooted in structural inequities between the Global South and Global North, particularly restricted access to prenatal screening, genetic counseling, early diagnostic technologies, and multidisciplinary care, as well as higher rates of maternal infections and nutritional deficiencies (Christianson et al. 2006; World Health Organization, 2011). In Rwanda, genetic services have progressed since the establishment of a dedicated center in 2006, yet remain centralized and constrained, with chromosomal abnormalities, predominantly Down syndrome, detected in up to 39% of pediatric referrals presenting developmental delays and congenital anomalies (Uwineza et al. 2016; Uwineza and Mutesa 2015). Recent initiatives, such as the 2024 partnership between Beijing Genomics Institute (BGI) Genomics and the Rwanda Biomedical Centre, signal growing investment in advanced genomic laboratory infrastructure and sequencing technologies that can strengthen national capacity for the diagnosis of genetic and neurodevelopmental disorders, including chromosomal and monogenic conditions (BGI 2024).

Despite the availability of centralized genetic services at a few tertiary healthcare settings in Rwanda (e.g., University Teaching Hospital of Kigali [CHUK] and Rwanda Military Teaching Hospital [RMTH]), scientific research on the lived experiences of parents of children with genetic disorders or NDDs encompassing both barriers and enabling factors remains scarce. By amplifying Rwandan parents’ voices on diagnostic journeys, financial strains, stigma, supportive mechanisms, and resilience, this study contributes to understanding family adaptation while informing culturally sensitive, equitable strategies for genetic care in Rwanda and similar LMICs.

Methods

Study design and approach

This study employed a qualitative descriptive design with a descriptive (Husserlian) phenomenological orientation that incorporated elements of interpretative phenomenology. This approach was selected because it prioritizes the description of participants’ lived experiences as they appear while still allowing interpretive insight into the meanings parents ascribed to their diagnostic and caregiving journeys, aligning with the study objective of understanding both barriers and enablers in a resource-constrained setting (Kim et al. 2017; Neubauer et al. 2019). Semi-structured in-depth interviews were conducted to capture rich, narrative data on parental perspectives, diagnostic processes, emotional impacts, socioeconomic challenges, stigma, resilience, and interactions with the healthcare system. As clinician-researchers, the interviewers maintained reflexive journals throughout data collection and analysis to bracket preconceived clinical assumptions about genetic conditions and healthcare access; regular peer debriefing sessions further helped surface and mitigate potential biases arising from the dual clinician-researcher role (Berger 2015; Finlay 2002).

Setting and recruitment

The study was conducted at the Pediatric Genetics Clinic of CHUK. Although genetic services are also available at RMTH, recruitment was limited to CHUK because it serves as the primary national referral center for pediatric genetic conditions, receives the largest volume of referrals from across the country, and offers consistent access to eligible participants during the study period. This single-site approach may limit transferability to families who exclusively attend other facilities or never reach specialized care. Recruitment occurred between November 2023 and July 2024 during routine clinic visits. Participants were purposively sampled to include parents or primary caregivers of children with NDDs with confirmed or suspected genetic disorders. Inclusion criteria comprised (1) being a parent or caregiver of a child under 18 years referred to or followed at the genetics clinic for NDDs; (2) willingness to participate in an audio-recorded interview; and (3) ability to provide informed consent. Exclusion criteria included the inability to communicate in Kinyarwanda (thereby excluding non-Rwandan speakers and some refugees or international residents); this criterion was applied for linguistic and cultural consistency of data collection but is acknowledged as a limitation that may reduce transferability to non-Kinyarwanda-speaking caregivers. A total of 27 interviews were conducted, involving 30 participants (27 mothers, 3 fathers; 3 couples interviewed jointly), achieving thematic saturation where no new themes emerged.

Ethical considerations

The study was approved by the Institutional Review Board (IRB) of the College of Medicine and Health Sciences, University of Rwanda (Approval N°340/CMHS IRB/2023) and CHUK Ethics Committee (N°EC/CHUK/1/171/2023). Both verbal explanation and written informed consent were obtained from all participants prior to interviews. Written informed consent included explicit permission for audio recording and use of anonymized data for research and future dissemination. Participants were informed of their right to withdraw at any time without impacting clinical care. To minimize any perception of coercion arising from the dual clinician-researcher role, recruitment and consent discussions were conducted by a research assistant who was not involved in the child’s clinical care; the clinical team was not informed of participation status; and it was repeatedly emphasized that refusal or withdrawal would not affect the care the child received. Confidentiality was ensured through secure storage of recordings and transcripts, with all identifying information removed during analysis. Verbal explanations were provided in Kinyarwanda to accommodate varying literacy levels, and emotional support referrals were available if distress arose during interviews. No incentives were provided, though transport reimbursement was offered where it was feasible to minimize burden.

Data collection

Interviews were conducted by a trained medical doctor experienced in pediatric care and qualitative research, in collaboration with a clinical geneticist. Before data collection, the interview guide was developed based on a literature review and expert consultation, then piloted with two caregivers to assess clarity, cultural appropriateness, and flow; minor refinements were made based on the pilot. Participants were identified during routine Pediatric Genetics Clinic visits at CHUK. Eligible parents or primary caregivers were approached by the research team after their clinical consultation, informed about the study, and invited to participate in a private interview the same day or at a mutually convenient time.

A semi-structured interview guide was developed based on literature review and expert consultation, covering (1) sociodemographic background; (2) child’s clinical presentation and diagnostic journey; (3) access to genetic services (barriers and facilitators); (4) financial, social, and emotional impacts; (5) experiences of stigma and resilience; (6) satisfaction with care; and (7) attitudes toward telemedicine and other potential service delivery models; and (8) suggestions for service improvement. Interviews lasted 20–40 min, were conducted in Kinyarwanda in a private clinic room for privacy, and were audio-recorded using a digital voice recorder (Olympus WS-853) with additional backup on a password-protected smartphone recording application. Field notes captured non-verbal cues and contextual observations. To reduce social desirability and recall bias, interviewers used open-ended, non-leading questions, encouraged participants to recount both positive and negative experiences, and employed probing and chronological reconstruction techniques.

Data analysis and trustworthiness

All recordings were transcribed verbatim in Kinyarwanda and translated into English by bilingual research assistants fluent in medical terminology. Transcripts were verified for accuracy against originals by the lead researcher. Thematic analysis was performed using ATLAS.ti software (version 25.0.1), following Braun and Clarke’s (2006) six-phase framework. Coding was inductive, allowing themes to emerge directly from the data, while sensitizing concepts from the literature guided interpretation (Braun and Clarke 2006). Two researchers independently coded a subset of transcripts to enhance rigor, with discrepancies resolved through discussion until consensus.

Reflexivity was operationalized through continuous memo-writing in which the lead interviewer (a clinician) explicitly documented how clinical knowledge and prior assumptions about diagnostic delays or parental coping might shape questioning, coding, or theme interpretation; these memos were reviewed in monthly peer-debriefing meetings with two non-clinician qualitative researchers. Transcripts were not returned to participants for formal feedback due to logistical constraints (rural residence, limited contact means, and time), but informal member checking occurred during interviews through real-time summarization of key points and clarification questions (“Have I understood correctly that…?”), allowing participants to correct or expand their accounts.

Credibility was enhanced through prolonged engagement over the nine-month data-collection period, peer debriefing (conducted monthly with two independent qualitative researchers), and thick description of contexts. Transferability was supported by detailed participant and setting descriptions. Dependability was ensured via a comprehensive audit trail that included dated coding decisions, theme-development memos, meeting notes from peer debriefings, and version histories of codebooks stored within ATLAS.ti. Confirmability was addressed through reflexive journaling and independent coding (Ahmed 2024; Finlay 2002; Nowell et al. 2017; Tong et al. 2007). The study followed the Consolidated Criteria for Reporting Qualitative Research (COREQ) guidelines for reporting.

Contextual note on Ubudehe

Ubudehe is Rwanda’s community-based socio-economic classification system that categorizes households into four (previously five) categories according to income, assets, and vulnerability. Categories 1–2 represent the poorest and most vulnerable households and receive higher levels of government social protection, including fully or heavily subsidized community-based health insurance (Mutuelle de Santé). Category 3 comprises households with moderate means that are generally self-sufficient but still face occasional financial pressure, while Category 4 includes the wealthiest households with stable income and assets, who pay the full contribution for Mutuelle de Santé or are covered by other insurance schemes (e.g., RSSB or private insurance). Category membership therefore directly influences the degree of financial protection available and shapes caregivers’ lived experiences of out-of-pocket costs, transport affordability, and ability to sustain long-term engagement with specialized genetic services.

Results

Demographic characteristics of participants

A total of 27 interviews were conducted, involving 30 participants (27 mothers and 3 fathers; three interviews included couples). Participants were primarily from rural or peri-urban districts across Rwanda, reflecting the referral pattern to CHUK and district hospitals. Table 1 summarizes key sociodemographic characteristics. Children’s ages ranged from 1 month to 9 years (median approximately 2.5 years); 16 were boys, and 14 were girls. Conditions included confirmed or suspected trisomy 21 (Down syndrome), disorders of sex development, congenital heart defects with suspected genetic etiology, failure to thrive, microcephaly, undiagnosed global developmental delay, sickle cell disease, Freeman-Sheldon syndrome, and Bardet-Biedl syndrome.

Table 1.

Sociodemographic characteristics of participants (N = 30)

Characteristic	Category	Number (n)	Percentage (%)
Gender	Mother	27	90
	Father	3	10
Marital Status	Married / Living together	27	90
	Single / Separated	3	10
Ubudehe Category	Category 1–2	15	50
	Category 3	15	50
Health Insurance	Community-based health insurance (CBHI/Mutuelle de santé)	27	90
	Public service and private insurance*	8	27
Primary Occupation (Household)	Farming / Agriculture	18	60
	Casual labor/trading	8	27
	Formal employment	4	13
Education Level (Highest per Household)	Primary incomplete/partial	15	50
	Secondary school	11	37
	University	4	13
Age of Parents (years)	20–29	9	30
	30–39	11	37
	40–49	8	27
	≥ 50	1	3

*Percentages for health insurance exceed 100% due to multiple insurance coverage among some households

Parental experiences: thematic overview

The thematic analysis yielded six interconnected themes that capture the multifaceted lived experiences of parents. These themes illustrate progression from adversity encompassing diagnostic uncertainty, systemic constraints, economic burdens, and cultural stigma to adaptive resilience and forward-looking advocacy for change. Table 2; Fig. 1 present the themes and their corresponding subthemes, with illustrative prevalence (number of interviews).

Table 2.

Major themes and subthemes

Theme	Subthemes	Prevalence (n/27 interviews)
Diagnostic Delays and Uncertainty	·Prolonged multi-site referrals and testing · Delayed or inconclusive results · Prolonged diagnostic and emotional uncertainty	25 (93%)
Systemic and Access Barriers	· Geographic and logistical barriers to care · Service centralization and limited capacity · Lack of supportive services	27 (100%)
Socioeconomic Hardships	· Direct costs (transport, medications, tests) · Indirect costs (lost income, impact on siblings) · Cycle of poverty exacerbation	27 (100%)
Sociocultural Stigma and Isolation	· Supernatural and blame attributions · Provider communication challenges · Social exclusion and concealment	17 (63%)
Resilience, Hope, and Adaptive Coping	· Parental commitment and proactive efforts · Sources of hope · Appreciation for compassionate, specialized care	26 (96%)
Visions for Improved Service Delivery	· Community education or advocacy · Financial or structural supports · Technological integration · Enhanced provider empathy and training	27 (100%)

Fig. 1.

Parental journey of accessing genetic services for children with genetic and neurodevelopmental disorders in Rwanda

Theme 1: diagnostic delays and uncertainty

The diagnostic process for children with suspected genetic disorders or NDDs was characterized by protracted, multifaceted trajectories that engendered considerable uncertainty and psychological burden for parents. The diagnosis journey typically commenced with the identification of atypical clinical features during the neonatal period or early infancy, including feeding difficulties, chronic respiratory distress, failure to thrive, ambiguous physical features, or delayed developmental milestones, and progressed through iterative consultations across multiple levels of the healthcare system. Initial presentations were frequently misinterpreted as common pediatric conditions like infections and prematurity-related complications, resulting in delayed recognition of the underlying genetic etiologies. While some parents described observable symptomatic improvements through targeted interventions, such as cardiac management or nutritional support, the absence of a confirmatory genetic diagnosis perpetuated a state of a prolonged sense of uncertainty. This experience was commonly characterized by ongoing anxiety and unresolved concerns regarding the underlying cause of their child’s condition, anticipated prognosis, and future care needs.

Subtheme 1.1: prolonged multi-site referrals and testing

Participants consistently described a stepwise escalation of care, beginning at primary (health centers) or district-level facilities where symptoms were managed empirically before referral to specialized tertiary centers such as CHUK or RMTH. This fragmented pathway often involved multiple transfers, repeated clinical assessments, and sequential diagnostic investigations, reflecting the limited capacity for genetic evaluation at lower-tier facilities.

“After delivery, the doctor told me that one child had a problem and that he was going to give me a transfer to the Teaching Hospital for more details and management.” [P08].

“I went to three different hospitals before they told me to come to CHUK. Each one said they could not help further.” [P15].

Parents of children with suspected chromosomal anomalies, including possible trisomy 21, similarly endured extended referral pathways and testing delays. Despite early clinical suspicion, many reported being unable to travel promptly due to financial constraints and subsequently faced recurrent hospitalizations without receiving confirmatory genetic results or specialized follow-up.

“They told me that it is the way the child was formed during the pregnancy; that is a problem the child is born with. … I went to CHUK [on my own], but later the hospital transferred me to RMTH’s hospital… They told me the laboratory results will come after six (6) months.” [P26]

“We kept going back and forth for months. Every time they said the results were not yet ready.” [P11].

Subtheme 1.2: delayed or inconclusive results

In most cases, karyotyping (a laboratory test that examines chromosomes for abnormalities) results were normal, and further advanced molecular investigations, such as whole-exome sequencing, were sent to laboratories abroad. In several cases, turnaround times exceeded initial estimates, which impeded timely therapeutic decision-making. In addition, some molecular analyses yielded negative or inconclusive results.

“A geneticist took laboratory exams and later told me that he (my baby) doesn’t have the disease that she was thinking he might have, but there was another exam that she took, which took up to 6 months to get the results. They took it abroad, and the results are not available yet.” [P05].

“They told us that the results would be available after 7 months. Now, 7 months have passed, and we haven’t gotten them yet, and the child needs to be treated.” [P09].

“There are many exams that they did for the child, but we haven’t gotten results; they always tell me that the child doesn’t have a problem, yet I see that she does.” [P16].

Subtheme 1.3: prolonged diagnostic and emotional uncertainty

While symptomatic management yielded observable benefits, such as resolution of cardiac anomalies or improved respiratory function, the absence of an etiological diagnosis sustained parental distress. Families grappled with unresolved questions about the fundamental cause of their child’s condition, often articulating a sense of suspension between hope derived from incremental gains and apprehension regarding long-term implications.

“He doesn’t grow, or gain weight… look at him; he looks like a baby of 2 months, yet he is 2 years old. What do you think is the cause?” [P15].

“So far, the child is suffering, and she doesn’t get any treatment. Unless there are some changes after meeting this doctor… the exams always come back negative, and it also confuses the doctor, so I think that if they can do research, they will eventually discover where the problem is.” [P16].

“We started by showing the symptoms the child had, and the doctors tried to find out the disease from what they studied and their experience, and we believe that… they shall find out the condition of the child.” [P13].

Theme 2: systemic and access barriers

All participants articulated profound structural limitations within Rwanda’s nascent genetic healthcare infrastructure, characterized by the pronounced centralization of specialized services in urban tertiary institutions, predominantly CHUK and RMTH, all located in Kigali. This concentration of expertise and diagnostic resources created substantial barriers to equitable access, particularly for families residing in rural or remote districts. Routine follow-up appointments, which might be straightforward in high-resource settings, were transformed into complex logistical undertakings involving considerable time, physical exertion, and coordination. These systemic constraints not only delayed care but also exacerbated socioeconomic vulnerabilities, underscoring the challenges of delivering specialized genetic services in a resource-constrained, decentralized health system.

Subtheme 2.1: geographical distance and logistical hurdles

Residence in rural districts imposed significant travel burdens, necessitating early-morning departures, prolonged journeys on public transport or foot, and occasional overnight stays to accommodate clinic schedules. Parents frequently described the physical toll on both them and their children with chronic medical conditions, compounded by unpredictable appointment notifications and the need to arrange alternative care for siblings.

“We live far from the main road, so it took me to wake up very early, and I told you that he has sinusitis, so I have to walk a long journey with this child who doesn’t have strength. Additionally, we have problems with finances and other things that we are supposed to do instead; we pay other people to do them for us, owing to our long stay in the hospital.” [P15].

“On Monday, that’s when they told me that I should come here today, and it was hard for me to get the ticket for transport, so I went to my people whom I had not even finished paying the money I had borrowed from them. Some gave me one thousand, others 2 thousand, and I took the road to come here. They should tell us beforehand so that I can plan and even leave food for my children.” [P17].

“I come from far… sometimes you have to stay overnight because the child is sensitive to cold.” [P01] (Single mother describing challenges with clinic timing and distance).

Subtheme 2.2: service centralization and limited capacity

Genetic consultations were predominantly available on designated days (e.g., Wednesdays) at centralized tertiary facilities, resulting in high patient volumes, extended waiting times, and occasional prioritization challenges. This reflected limited capacity within the specialized healthcare system rather than among participants. Participants emphasized that this model disproportionately disadvantaged rural families and called for expanded service availability and decentralization to reduce reliance on Kigali-based care.

“Sometimes you come and find that there are many people, and you come back home late at night, but if it is twice a week, you can even decide to come another day.” [P05].

“These services should reach the level of district hospitals, not only being provided here at CHUK, RMRTH, and King Faisal Hospital… they (health authorities) should increase the number of specialists.” [P13].

“The second issue is that these services are only available at the limited hospitals, so a child couldn’t be followed up at the health center level without coming here (Teaching Hospital).” [P04].

Subtheme 2.3: lack of supportive services

Although referrals for adjunct therapies such as physiotherapy and specialized education were routinely provided, actual uptake was frequently hindered by geographical, financial, and informational barriers. Parents expressed appreciation for these recommendations but lamented the absence of accessible, affordable options at community or district levels, which limited comprehensive management of neurodevelopmental needs.

“They sent us to physiotherapy, but we haven’t taken him there yet.” [P14].

“If they can find us the specific schools for them, it will be good because if they go to school with the normal children, it is difficult for them to go at their levels.” [P02].

“There are a few schools that we know for them, but they are expensive…” [P04].

Theme 3: socioeconomic hardships

Socioeconomic hardships emerged as the most pervasive and consistently articulated barrier across all 27 interviews, profoundly influencing families’ capacity to initiate and sustain engagement with genetic healthcare services. In a context where most participants belonged to lower Ubudehe categories (2 or 3) and relied primarily on subsistence agriculture or informal labor, the financial demands associated with caring for a child with a genetic disorder or NDD precipitated a cascade of economic pressures. These hardships encompassed both immediate out-of-pocket expenditure and longer-term opportunity costs, often entrenching households in a cycle of deepened poverty. The cumulative effect not only strained household budgets but also compromised broader family well-being, including the educational and nutritional needs of siblings, highlighting the intersection of disability-related care with structural inequalities in a low-resource setting.

Subtheme 3.1: direct costs

Participants frequently detailed recurrent, uninsured expenses for essential components of care, including transportation to centralized facilities, prescription medications not fully covered by Community Based Health Insurance, diagnostic tests, and nutritional supplements. These direct costs were particularly burdensome given the frequency of appointments and the chronic nature of many conditions, often exceeding families’ immediate financial reserves and necessitating borrowing or reliance on informal support networks.

“One type of medication (Avamys) costs me fifteen thousand Rwandan francs (approximately 11–12 USD); even now I no longer find it. It might have increased in cost, probably to eighteen thousand (approximately 13–14 USD) by now. So, imagine if you have to buy two drugs, because she often has upper respiratory infections.” [PO1].

“They give me a prescription, and I go buy them outside of the hospital’s pharmacy… around eighteen thousand (approximately 13–14 USD).” [P15].

“Nutritional supplements like porridge powder and therapeutic milk… otherwise, if he is sick, they give him medications.” [P14].

Subtheme 3.2: indirect costs

Beyond direct expenditures, the intensive caregiving demands disrupted parental employment and income-generating activities, particularly for mothers who bore the primary responsibility for attending appointments and providing daily care. Many reported relinquishing formal or informal work, resulting in lost wages and diminished household productivity. The lack of alternative caregivers within the household or extended family further limited parents’ ability to maintain economic activities while meeting the child’s care needs.

“I had a job before giving birth to this child, but because of many medical appointments, including physiotherapy, now I’m not working today.” [P04].

“I’m his mother and father at the same time.” [P05].

“I was among the women who do trading across borders and stopped it when I was pregnant until now, so my husband took over himself alone because I’m always busy at the hospital with this child.” [P14].

“Due to this child’s problem, I have to leave my job, because anytime she gets severely sick, I take her to the hospital… the only possible thing is for you to have capital and create a business on your own.” [P01].

Subtheme 3.3: cycle of poverty exacerbation

The persistent financial demands of ongoing care perpetuated a downward spiral of economic vulnerability, with resources diverted from essential family needs such as education, food security, and agricultural inputs. This reallocation often affected siblings disproportionately and reinforced intergenerational poverty, as parents described borrowing money, accumulating debt, and forgoing investments in household resilience.

“You lack the school fees for other children because you have spent all the money on this one only; all this is a big issue for us, and we leave it to God.” [P06].

“It brings poverty in the family due to expenses like transport fees, medical bills, etc. It is very difficult; you can lack money to bring the child to the hospital.” [P09].

“Their father had to go farming, and the children (siblings) would suffer from diseases due to poor hygiene because no one was taking care of them, so there were many challenges.” [P14].

Theme 4: sociocultural stigma and isolation

A substantial proportion of participants (17 of 27 interviews) reported encountering sociocultural stigma, which shaped their experiences of caregiving and care-seeking. In Rwandan communities, genetic disorders and NDDs were frequently attributed to traditional explanatory models, including supernatural causation, moral retribution, or familial culpability, rather than biomedical genetics.

Subtheme 4.1: supernatural and blame attributions

Community members commonly invoked supernatural or moral frameworks to explain the child’s condition, attributing it to curses, witchcraft, poisoning, or ancestral displeasure. These narratives often implicated parental or familial actions, fostering guilt, shame, and interpersonal conflict.

“They can tell you that you cut off the family, and other people say that the family has given the child as a victim in exchange for wealth; many things make us not cope with society.” [P11].

“They say that it is KARANDE (this term means chronic disease running in the family or conditions that could be associated with witchcraft) from the family, or that we might have been poisoned. So, if they say so, you feel disappointed and traumatized.” [P12].

“No one has ever told me that my son was poisoned, but for those who have obvious disabilities, they tell them that… it’s difficult for them to eat, drink.” [P02].

Subtheme 4.2: provider communication challenges

Interactions with healthcare workers at primary or district levels sometimes revealed gaps in culturally sensitive communication. These encounters affected families’ trust and influenced care-seeking decisions, leading some to pursue services at specialized centers despite practical constraints.

“When a doctor tells you that your child’s condition will inevitably worsen, it becomes very discouraging …. This is one of the reasons we chose not to continue follow-up at our district hospital. Although coming here is difficult, we prefer to keep trying rather than returning to the local facility, because hearing such statements makes you lose hope.” (Caregivers describing the impact of discouraging prognostic communication) [P12]

“Some healthcare providers may be very busy and therefore seem less available or receptive to requests for help. When combined with existing concerns about a child’s condition, this can add to caregivers’ stress.” (Caregiver reflecting on variability in provider communication and support) [P07].

Subtheme 4.3: social exclusion and concealment

Stigmatizing attitudes manifested in overt avoidance, reluctance to interact with affected children, and practical barriers to community integration, such as securing childcare or social support. Some families responded by limiting public exposure of their child, further entrenching isolation.

“There are some people who hesitate to touch her because of her condition.” (Mother describing perceived social avoidance related to her child’s condition) [P16].

“A person who agrees to stay with your child is a best friend to you. No one would accept that… you cannot find a person who would stay with your child in case you are not available; it is very hard for us.” (Motheremphasizing extreme childcare difficulties due to stigma) [P06].

The same mother is highlighting the rarity of empathetic community support by saying that:

“In our villages you cannot find a person who would stay with your child… finding a parent who has that sympathy to care about a child with a disability is difficult.” [P06].

Theme 5: resilience, hope, and adaptive coping

Despite the multifaceted adversities delineated across preceding themes, participants overwhelmingly demonstrated remarkable resilience, manifesting as sustained commitment to care-seeking, emotional adaptation, and derivation of meaning from their experiences (evident in 26 of 27 interviews). Parents drew upon intrinsic motivation, observed child progress, spiritual beliefs, and positive healthcare interactions to sustain hope.

Subtheme 5.1: parental commitment and proactive efforts

Amid relentless uncertainty, crippling financial strain, and piercing social judgment, parents revealed themselves as indefatigable champions, turning profound love into a force of tireless action. They endured exhausting journeys across rugged districts, forfeited wages and precious sleep, and chased every fragment of hope with unyielding determination, transforming what could have been despair into a living testament of devotion that rose above hardship, prognosis, and exhaustion.

One guardian from a remote village captured this spirit vividly:

“If there is somewhere they call me, I rush there without hesitation… I don’t do all these walks for nothing… I want to know what problem he has. I will support him in his growth, like now I don’t sleep; if he gets sick at midnight, I wake up and take him to the hospital… I will make peace with it if I find that he will not be cured… I will treat him like other children; he is my child like others.” [P17].

Others persistently rejected traditional healers or unproven remedies, anchoring their trust solely in medical care despite the distances and delays involved.

“I didn’t go anywhere else.” [P05; P14]. This deliberate choice reflected not only trust in the medical system but also a fierce refusal to gamble with their child’s fragile health.

Even in the face of developmental delays that set their children apart, parents actively envisioned better futures, advocating for tailored education and support:

“Because such children are behind others in every domain… if they can find us the specific schools for them…” [P02].

Single mothers, often carrying the load alone after partners departed or withdrew, spoke of quiet partnerships forged from necessity:

“I only live with my children… My husband is unemployed, and we help each other in finding how we can live.” [P03].

And when appointments demanded repeated effort for physiotherapy or specialist reviews, the response was unwavering perseverance:

“We try, but it’s not easy.” [P27].

From rural guardians rising before dawn to urban mothers navigating alone, these voices converge into a powerful chorus: no road too long, no sacrifice too heavy, no verdict bleak enough to dim the fierce resolve to nurture, protect, and advocate for their child’s fullest possible life. In their relentless pursuit, parents did not merely cope; they redefined resilience, proving that love, when tested, becomes an unbreakable engine of hope.

Subtheme 5.2: sources of hope

In the shadow of prolonged uncertainty and recurrent setbacks, parents cultivated a resilient hope that served as an emotional lifeline, drawing sustenance from multiple wellsprings. Tangible clinical gains, however modest, ignited belief in further progress, while deep spiritual conviction anchored optimism in divine possibilities. Many also reframed their child’s condition within a broader narrative of acceptance and enduring love, transforming potential despair into a quiet, steadfast expectation of a meaningful life ahead.

One parent, witnessing gradual improvements after interventions, expressed renewed conviction:

“I have seen some positive changes in my child. He is not like the way he was before; I believe that he will be cured.” (P08).

Faith emerged as a powerful counterweight to medical ambiguity, with an educated father articulating a profound trust in higher purpose:

“It’s a journey we started, and it has to have an end… with God and the Holy Spirit, they shall find out the condition of the child.” [P13].

Others blended hope with pragmatic acceptance, maintaining forward momentum even while preparing for unchanging outcomes:

“Now I’m looking for the treatment, hoping that the child will be cured… I will make peace with it; I will treat him like other children.” [P17].

Encountering other affected children in clinical settings further reframed isolation into solidarity, shifting perceptions from tragedy to shared humanity:

“Going there made me see other children like mine; I’ve seen even more affected children, and I see that I’m not the only one. Instead, I started to see that my child is healthy.” [P018].

These diverse sources clinical, spiritual, relational, and perceptual interwove to form a buoyant hope that not only sustained parents through the long diagnostic odyssey but also fueled their ongoing advocacy and caregiving.

Subtheme 5.3: appreciation for compassionate specialized care

Against the backdrop of challenging experiences at peripheral facilities, interactions with the specialized teams at CHUK and other teaching hospitals emerged as important sources of emotional reassurance and renewed trust. Parents repeatedly praised the empathy, clear communication, and non-judgmental demeanor of geneticists, pediatricians, and support staff, describing these qualities as therapeutically transformative, restoring dignity, easing psychological burden, and reinforcing commitment to the care process.

Against the backdrop of challenging experiences at peripheral facilities, interactions with the specialized teams at district referral hospitals and teaching hospitals emerged as important sources of emotional reassurance and renewed trust. Parents consistently highlighted the empathy, clear communication, and non-judgmental approach of geneticists, pediatricians, and support staff. These qualities were perceived as highly supportive, contributing to the restoration of dignity, alleviation of psychological burden, and strengthened engagement with the care process.

The healing power of kindness was articulated movingly:

“You care about our child and treat us kindly in all things. If you treat a patient with kindness, he/she feels relieved, but if not, he/she cannot feel any improvement.” [P14].

Another parent highlighted the contrast with prior experiences, valuing both guidance and respect:

“I’m happy with how they treated me here… none ever talked to me badly, I asked many people for orientation, and they all answered me in a good manner, trying to help me.” [P07].

Explanatory efforts that bridged knowledge gaps were equally cherished, fostering understanding amid complexity:

“They do it with good customer care… they tried to explain to me everything.” [P01].

Parents frequently noted how such compassionate care countered the demoralization inflicted elsewhere, rebuilding faith in the healthcare system and motivating continued engagement despite logistical hardships. In these specialized spaces, empathy emerged not as an adjunct to clinical expertise but as an essential component of healing, validating parental struggles, humanizing the child’s condition, and kindling the resilience needed to persevere.

Theme 6: visions for improved service delivery

Participants offered practical recommendations for enhancing the delivery of genetic services in Rwanda, based on their lived experiences of navigating systemic barriers, financial strain, stigma, and diagnostic uncertainty. Suggestions included community-level awareness initiatives, economic support measures, infrastructural reforms, technological innovations, and human resource development.

Subtheme 6.1: community education and advocacy

Parents passionately advocated widespread community education to demystify genetic disorders, replace supernatural blame with biomedical understanding, and cultivate acceptance, ultimately encouraging early help-seeking and easing the isolation that weighs heaviest on families. They identified community health workers (CHWs) as effective messengers.

“These children have special and different disorders than what society knows, so you should provide education, training, and advocacy in the communities so that they understand that those children are like others… because even the parent who has such a child feels that the sky has fallen on him/her.” [P15].

“Speaking on radio, social media, and through the community health workers (CHWs), because they are the ones who meet those children often in the communities.” [P11].

This sentiment echoed across interviews, with another couple reinforcing the unique reach of CHWs:

“Giving information on time and disseminating it in the villages. The information about how children with such conditions are treated has to reach far in the health centers and health posts… There are CHWs, and those people are good messengers of the doctors.” [P14].

The goal was unambiguous: to normalize these conditions and embolden parents:

“Advocacy so that people would know that children with such disorders are treatable… you should encourage those parents to know information about these disorders and take their children to the hospital.” [P11].

These voices resonated with a powerful plea: educate to liberate, advocate to include.

Subtheme 6.2: financial and structural supports

The crushing economic toll of repeated journeys and uncovered costs emerged as a central grievance, prompting urgent calls for targeted financial relief and structural decentralization to prevent care from becoming a pathway to poverty.

“Help us pay for those tests and get medications… bring the doctors close to us and help us with all those services.” [P10].

This comprehensive plea captured a broader consensus that subsidies and expanded insurance could preserve family stability:

“There should be some help… providing them with the medical insurance… because if you have a sick child, you have many expenses, and it brings poverty in the family.” [P09].

Decentralization surfaced repeatedly as a cornerstone solution, with parents envisioning genetic testing and preventive counseling delivered at local health centers:

“You can give birth to 2 normal children, and you don’t know the information about the problem that might be running in your family… they should take these services to the health centers so that we can do those tests without coming here.” [P14].

Some looked beyond national borders for sustainability:

“We talked about that before; you should find sponsors from other countries to come and help parents who have such children financially.” [P10].

Together, these recommendations painted a vision of equity where geography and income no longer dictate access to lifesaving care.

Subtheme 6.3: technological integration

From remote villages to urban edges, parents embraced digital innovation as a practical bridge over logistical chasms, advocating hybrid models that harness technology for efficiency while safeguarding the irreplaceable human connection of in-person care.

“Sometimes people delay seeking treatment because of transport fees, but you cannot lack 100 frws of buying airtime to talk to the doctor.” [P08].

This vivid contrast underscored telemedicine’s potential to democratize access.

Parents thoughtfully balanced enthusiasm with nuance, proposing measured integration:

“Technology reduces time… like 80%, and the remaining 20% would be for a parent to meet the doctor face-to-face; even if he/she has mental trauma, the doctor should comfort him/her.” [P08].

A mother from the Northern Province envisioned localized digital hubs:

“If it is possible that I can go to the hospital and directly speak with the doctor here, it would be much better… It’s also good, but it feels much better when you talk to the doctor face-to-face.” [P08].

Couples reinforced selective application for follow-up:

“Talking to the doctor online and coming to the hospital only if it’s necessary… focus on that method of technology in the delivery of these services, because it can help a lot.” [P04].

In these reflections, technology emerged not as a replacement but as a compassionate ally shrinking distances without diminishing empathy.

Subtheme 6.4: enhanced provider empathy and training

Cutting across all recommendations was a deep yearning for consistent kindness and expanded expertise, with parents urging systemic investment in both the hearts and minds of healthcare providers.

“Some doctors are not supportive… and there is a need for those doctors to strengthen compassionate and respectful communication… because these are the problems that we didn’t cause ourselves.” [P06].

This call for universal empathy training resonated as a safeguard for reducing the risk of additional emotional distress for families.

On expertise, an educated father proposed strategic capacity-building:

“Increase the number of specialists by sending many doctors abroad to study it and do whatever possible to bring back in the country those who studied it, to avoid losing those people because it would be a loss as a country.” [P13].

Another father linked closeness to comprehensive care:

“What they should ensure is… to be close to the parents who have children with such disorders… try to find medications that can cure that disorder… following up with the parent if you cannot do something about the child.” [P12].

Finally, the long-term ripple of words was starkly illustrated:

“Not telling us bad words, avoid traumatizing us that nothing can be done, because even if the patient is cured, the parent might not bring the child to the hospital again.” [P12].

These intertwined appeals for empathy woven into every interaction and expertise scaled to meet rising need formed the emotional and professional bedrock of parents’ vision for a transformed system. These perspectives, grounded in lived experience, provide constructive insights to guide improved patient care.

Discussion

The findings from this qualitative study of 30 Rwandan parents caring for children with genetic disorders or NDDs reveal a complex interplay of systemic barriers, socioeconomic strain, sociocultural stigma, and profound resilience. These experiences underscore the persistent challenges in delivering equitable genetic healthcare in LMIC settings like Rwanda, while highlighting pathways toward hope and adaptation. By situating these themes within broader global and African literature, this discussion elucidates both universal patterns in rare disease caregiving and context-specific amplifications in SSA.

Diagnostic delays and uncertainty

The prolonged, fragmented diagnostic journeys reported by participants, marked by multi-site referrals, repeated inconclusive testing, and delays exceeding 6–7 months for advanced analyses, closely mirror the classic “diagnostic odyssey” described in rare-disease literature, yet in the present study these delays were experienced almost entirely within the constraints of a single national referral pathway. Recent systematic reviews confirm global average diagnostic intervals of 4.7–9.3 years (Faye et al. 2024; Tinker et al. 2024). In our sample, however, the prolonged diagnostic and emotional uncertainty was intensified by the absence of local molecular capacity and the necessity of sending samples abroad, a finding that extends earlier Rwandan cytogenetic reports (Uwineza et al. 2016) by documenting the lived parental experience of waiting. Similar patterns of prolonged uncertainty and parental distress have been documented among caregivers of children with rare conditions in other African settings, including South Africa and the Democratic Republic of Congo, where dependence on external laboratories further lengthens the pathway to diagnosis (African Rare Diseases Initiative (ARDI) 2025; Van Niekerk et al. 2026). The present data therefore add qualitative depth to the quantitative evidence of diagnostic delay by illustrating how the absence of timely results sustains anxiety even when symptomatic improvements occur.

Systemic and access barriers

Universal reports of centralization and geographical impediments reflect entrenched inequities across SSA (Kamga et al. 2025; Wonkam 2021). Rwanda’s establishment of a dedicated genetics center in 2006 is a regional advance (Uwineza and Mutesa 2015), yet the present data show that this progress has not yet translated into accessible care for rural families, who described overnight travel, early-morning departures, and inability to attend follow-up. This fragmentation occurs within a health system that continues to manage a dual burden of persistent communicable diseases (HIV, malaria, and tuberculosis) alongside rising non-communicable and genetic conditions (Hlatshwako et al. 2026; Sharma et al. 2025). The low uptake of physiotherapy and specialized education observed here further illustrates how supportive services remain siloed, confirming and extending global evidence on fragmented rare-disease pathways (Currie and Szabo 2019). Comparable barriers limited specialist numbers, urban concentration of services, and incomplete referral chains have been reported in Kenyan and Ethiopian studies of neurodevelopmental conditions, underscoring that Rwanda’s experience is part of a broader regional pattern (Gona et al. 2015; Tilahun et al. 2016).

Socioeconomic hardships

Financial burdens dominated every interview. Rwanda’s community-based health insurance (Mutuelle de Santé) covers basic consultations and some medications at public facilities, yet participants repeatedly reported substantial out-of-pocket costs for specialized genetic tests, nutritional supplements, and transport. Other schemes such as RSSB (for formal-sector workers) and private insurance offer broader benefit packages, but even these do not fully cover advanced genetic investigations or all associated costs. Consequently, Mutuelle provides only partial financial protection for genetic services compared with other insurance types. These findings align with broader SSA evidence of catastrophic expenditure linked to chronic childhood conditions (Murphy et al. 2020; Odunyemi et al. 2024) while adding qualitative depth on the gendered redistribution of household labor and the diversion of resources from siblings’ education. Recent analyses of health-financing schemes in Rwanda confirm that although Mutuelle has expanded population coverage, high-cost specialized interventions and uncovered medications continue to generate significant household expenditure, particularly for families in lower Ubudehe categories (Odunyemi et al. 2024). The present study therefore illustrates how even relatively strong community-based insurance can leave substantial gaps when genetic and neurodevelopmental care is required.

Sociocultural stigma and isolation

Supernatural attributions and social exclusion were reported by 63% of participants. These experiences parallel East African findings from Kenya and Ethiopia (Marsh et al. 2011; Tilahun et al. 2016), yet in the present study stigma was often subtler and more frequently enacted through avoidance of physical contact and refusal of childcare rather than overt ritual accusation. Provider communication at peripheral facilities occasionally reinforced fatalistic narratives, eroding trust and prompting families to bypass local services, an interactional dynamic less emphasized in previous regional literature. Recent qualitative work in Kenya has similarly documented affiliate stigma among caregivers of children with NDDs, manifested as social rejection, internalized shame, and reduced help-seeking (Mwangome et al. 2025). The Rwandan data reinforce that stigma operates both as a barrier to initial care-seeking and as an ongoing source of emotional burden once families enter the specialized system.

Resilience, hope, and adaptive coping

Parental narratives of unwavering commitment, faith-based reframing, and appreciation for compassionate, specialized care exemplified notable resilience amid multifaceted adversities. Positive interactions with specialized teams at CHUK functioned as a critical protective factor, mitigating trauma from peripheral encounters and sustaining hope, a pattern that resonates with global evidence on the buffering effect of empathetic healthcare relationships (Alagbonsi et al. 2025; Boettcher et al. 2021; Fisher et al. 2022; Von Der Lippe et al. 2022). Spiritual and acceptance-oriented strategies further supported adaptation, consistent with African contextual studies in which faith, peer contact, and communal reframing facilitate coping in resource-limited settings (Opoku et al. 2023; Van Niekerk et al. 2026). This resilience was not indicative of diminished suffering but rather a dynamic process that enabled persistent advocacy despite barriers, underscoring the therapeutic potential of specialized, non-stigmatizing care in LMICs.

Visions for improved service delivery

The pragmatic, experience-grounded recommendations advanced by participants, encompassing community-level education and advocacy through community health workers (CHWs) and mass media, targeted financial supports, structural decentralization, hybrid telemedicine models, and enhanced provider training in empathy and cultural competence, represent a sophisticated form of parental advocacy that directly addresses the interconnected barriers identified in this study. Emphasis was placed on the potential of CHWs and primary-care providers as trusted messengers for early recognition and stigma reduction, roles that remain underutilized in current genetic-service models (Kamga et al. 2025; Salunke et al. 2024). Evidence from Rwanda and other East African settings demonstrates that trained CHWs can substantially improve identification and mobilization of individuals with neurological and developmental conditions (Ngabireyimana et al. 2017; Sebera et al. 2022).

While hybrid telemedicine was widely endorsed, especially by rural and financially constrained families, both participants and the literature caution that digital solutions risk exacerbating existing rural–urban, economic, and literacy disparities if not accompanied by infrastructure investment and digital-literacy support (Badr et al. 2024; Chen et al. 2024). Careful, equity-focused implementation will therefore be essential if telegenetics is to narrow rather than widen access gaps. These proposals align with emerging continental strategies for genomic medicine in sub-Saharan Africa that prioritize community engagement, awareness-raising, workforce development, and innovative digital solutions (Kamga et al. 2025; Rodrigues et al. 2024; Wonkam 2021), as well as with global rare-disease policy frameworks advocating early intervention and capacity-building (Nguengang Wakap et al. 2020; The Lancet Global Health 2024).

In Rwanda’s rapidly evolving health landscape, the integration of these parent-derived insights aligns synergistically with national initiatives. The Ministry of Health’s 4 × 4 Reform seeks to address specialist shortages through accelerated postgraduate training, including in pediatrics and related subspecialties (Ministry of Health, 2023), directly supporting the parental call for an increased cadre of professionals capable of delivering decentralized care. Complementing this, the Rwanda Genomic Medicine Strategy (2023–2028) outlines a roadmap for building national genomic infrastructure, enhancing diagnostic capacity, and integrating genomic data into routine clinical practice (Rwanda Biomedical and Centre 2023). By prioritizing equitable access, community engagement, and multidisciplinary training, these aligned national efforts create a supportive policy environment for translating parental recommendations into sustainable, culturally attuned services that balance clinical precision with psychosocial support for families affected by genetic and neurodevelopmental disorders.

Implications for practice and policy

Participants’ recommendations were centered on community education, financial protection, decentralization of services, hybrid telemedicine, and enhanced provider training. Emphasis was placed on the potential of community health workers and primary-care providers as trusted messengers for early recognition and stigma reduction roles that remain underutilized in current genetic-service models. While hybrid telemedicine was widely endorsed for reducing travel costs, participants and existing evidence both caution that digital solutions risk exacerbating rural–urban, economic, and literacy disparities if not accompanied by infrastructure investment and digital-literacy support. Careful, equity-focused implementation will therefore be essential. These parent-derived insights align with national efforts such as the Ministry of Health’s 4 × 4 Reform and the Rwanda Genomic Medicine Strategy (2023–2028), creating a supportive policy environment for translating community education, financial protections, and hybrid service models into sustainable, culturally attuned care for families affected by genetic and neurodevelopmental disorders.

Study strengths and limitations

Strengths of this study include its in-depth exploration of both barriers and enabling factors, the inclusion of rural and low-Ubudehe households, the use of a systematic thematic analysis approach with dual coding, and the generation of parent-derived recommendations that align with national genomic and human-resource strategies.

This study also has several limitations that warrant consideration. First, recruitment was confined to parents attending the centralized genetics clinic at CHUK (rather than also including the Rwanda Military Teaching Hospital), potentially introducing selection bias toward families with greater resources or motivation to overcome access barriers. In addition, the exclusion of individuals who could not communicate in Kinyarwanda (thereby excluding some non-Rwandan and refugee caregivers) further limits the transferability of the findings to non-Kinyarwanda-speaking populations. Second, the predominance of Down syndrome means that this experience might not be the same for participants with children living with other NDD. Third, interviews were conducted in a clinical setting, which may have influenced participants to emphasize positive experiences with teaching-hospital providers while downplaying criticisms (possible social-desirability bias). Finally, the cross-sectional design captures a snapshot of experiences without longitudinal insight into evolving coping strategies or long-term outcomes. Moreover, most participants were still waiting for confirmatory genetic results or had only recently received them at the time of the interview; consequently, detailed exploration of post-diagnosis experiences (including acceptance or denial of diagnosis, changes in stigma, family reactions, and longer-term support needs) was limited.

Researcher, social-desirability, volunteer, and recall biases were mitigated through reflexive journaling, non-leading interview techniques, independent dual coding, and informal member-checking during interviews, yet residual influence cannot be entirely excluded. Future research employing community-based sampling, larger multisite cohorts, and mixed-methods approaches could address these gaps and evaluate the efficacy of the interventions suggested by participants.

Conclusion

The narratives of these Rwandan parents illustrate the substantial burdens associated with genetic disorders and NDDs, prolonged diagnostic uncertainty, restricted access to specialized services, economic strain, and sociocultural stigma that are intensified in LMIC settings characterized by resource constraints. Yet amid these challenges, participants demonstrated notable resilience, sustained by observed clinical progress, spiritual resources, and compassionate specialized care. Their recommendations provide a practical roadmap for reform decentralization, community-health-worker engagement, financial protections, and carefully implemented hybrid digital models that align with Rwanda’s current genomic and human-resource initiatives. Integrating these parent-centered insights into policy and practice can help shorten diagnostic pathways, reduce familial hardship, and support more equitable genetic services for affected children and families.

Author contributions

All authors participated in the study conceptualization, methodology, investigation, formal analysis, data curation, visualization, and validation. AU, JCH, JH, JPU and AIA participated in the writing (draft and editing) and software. DR, DCU participated in data collection. AAM, AM, JH, JPU, JM, RF, LM, AU and AIA participated in the project administration and supervision. AU received the funding.

Funding

The authors declare that financial support was received for the research, authorship, and/or publication of this article. This study was sponsored by the African Research Initiative for Scientific Excellence (ARISE), the pilot program (grant number ARISE-PP-40), and the NCST (National Council for Science and Technology) grant NCST-NRIF WIS-R&D 07/001/2022.

Data availability

All research data supporting the findings of this study are available from the corresponding author upon reasonable request.

Declarations

Reflexivity Statement

The lead interviewer was a clinician working in the pediatric genetics clinic. This dual role offered valuable contextual understanding of the care pathway but also carried the potential to influence data generation and interpretation. To mitigate this, the researcher maintained reflexive memos throughout data collection and analysis, documenting assumptions and emotional responses. Peer debriefing sessions with non-clinician qualitative researchers were held regularly to challenge emerging interpretations and enhance confirmability.

Competing interest

The authors declare no competing interests.