Experiences of family caregivers regarding the health of children with congenital craniofacial anomalies in Colombia

This qualitative study of 25 caregivers in Colombia reveals that families of children with congenital craniofacial anomalies face significant challenges—including late diagnoses, inadequate support, system fragmentation, and a gendered caregiving burden—necessitating gender-sensitive, patient-centered strategies and improved healthcare training and pathways.

The Gist

Imagine a family receiving a map to a new, unfamiliar city. For most parents, this map is clear, the roads are paved, and the signs are easy to read. But for the families in this study—parents of children born with Congenital Craniofacial Anomalies (CCAs) in Colombia—the map is torn, the roads are blocked, and the signs are written in a language they don't speak.

This research paper is a collection of stories from 25 parents (mostly mothers) in two Colombian cities, Bogotá and Cali. They share what it's really like to navigate the healthcare system while caring for a child with a birth defect affecting the head, face, or skull (like cleft lips, fused skull bones, or missing ear parts).

Here is the story of their journey, broken down into simple, everyday concepts:

1. The "Surprise Detour" (Diagnosis)

Imagine you are driving along, and suddenly, without warning, you hit a massive pothole. That is what the diagnosis often feels like.

• The Late Arrival: Many parents found out about their child's condition after the baby was born, even though they had prenatal checkups. It's like being told your house has a cracked foundation only after you've already moved in.
• The Scary Weather Report: When doctors finally spoke, they often sounded like storm chasers predicting a hurricane. They focused on the worst-case scenarios ("The child might never walk," "There is a high risk of death"). This left parents feeling terrified and hopeless, rather than informed and supported.
• The Jargon Jungle: Doctors spoke in complex medical terms that felt like a foreign language. Parents were handed a manual written in code, leaving them confused and alone.

2. The Maze of Bureaucracy (The Healthcare System)

Once the diagnosis is made, the parents have to find a way to get help. In this study, the healthcare system felt less like a highway and more like a giant, confusing maze with dead ends.

• The "Run-Around": Parents described being sent from one specialist to another, only to be told, "I don't treat that." It's like going to a hardware store to fix a leak, and the clerk says, "We don't sell pipes, go to the plumbing store," but the plumbing store is closed.
• The Waiting Game: Even when they found the right doctor, the wait was agonizing. A surgery needed at 6 months might happen at 7 months because of paperwork delays. For a growing child, every month lost is a month of missed development.
• The "White Coat Angels": Amidst the maze, some parents found a few "angels"—doctors who actually listened, explained things clearly, and fixed the problem. These doctors were like lighthouses in a storm, guiding the family to safety. But finding them felt like winning the lottery.

3. The "Superhero Mom" Burden (Caregiving)

In this story, the role of the caregiver falls almost entirely on the mothers.

• The Juggler: These mothers aren't just moms; they are project managers, nurses, advocates, and emotional anchors. They are juggling a thousand balls in the air: medical appointments, therapy sessions, feeding difficulties, and household chores.
• The Invisible Weight: Because society often expects women to be the "natural caregivers," this heavy load is rarely shared with fathers or the community. It's like carrying a heavy backpack that no one else sees, while trying to run a marathon. Many mothers had to quit their jobs or work from home just to keep their children safe, leading to financial stress and isolation.
• The Emotional Rollercoaster: The emotional toll is immense. Parents described feeling guilty (thinking, "Did I eat the wrong thing?"), depressed, and constantly anxious. They are walking on eggshells, terrified that a small mistake could hurt their child.

4. The Lifelines (What Helped)

Despite the darkness, the families found ways to keep going:

• The Search Engine: Since the doctors didn't always give clear answers, parents became their own researchers. They scoured the internet and asked around, turning themselves into experts just to survive.
• Faith and Family: For many, their faith ("holding on to God's hand") and their extended family were the only things keeping them from falling apart. They were the safety net when the system failed to catch them.
• Charity Heroes: Non-profit organizations sometimes stepped in to pay for surgeries or provide support when the government system couldn't. These groups were like the "good Samaritans" who fixed the broken bridge.

The Big Takeaway

The authors of this paper are saying: The system is broken, and the parents are paying the price.

The healthcare system is currently built like a rigid machine that doesn't account for the human heart. It needs to be rebuilt. They suggest:

1. Better Maps: Doctors need to explain things clearly and kindly, not just list scary statistics.
2. Clear Roads: There needs to be a direct path for these children to get surgery and therapy without getting lost in bureaucracy.
3. Helping Hands: We need to stop expecting mothers to carry the whole burden alone. Fathers, families, and the state need to share the load.
4. Training: Doctors and nurses need to be trained not just in surgery, but in how to talk to scared parents with empathy.

In short: These families are trying to build a beautiful house on shaky ground. They have the love and the will, but they need the healthcare system to stop throwing rocks at them and start handing them the tools they need to build a stable future.

Technical Summary

1. Problem Statement

Congenital Craniofacial Anomalies (CCAs) are structural or functional abnormalities affecting the head, face, and neck (e.g., cleft lip/palate, craniosynostosis) that significantly impact the psychological well-being of families and the functionality of healthcare systems. While global prevalence is high, low- and middle-income countries like Colombia face specific challenges, including high rates of malformations (177 per 10,000 live births) and fragmented healthcare delivery.

The core problem addressed is the lack of understanding regarding the lived experiences of primary caregivers (predominantly mothers) within the Colombian General Social Security Health System (SGSSS). Caregivers face complex barriers including late diagnoses, poor communication from medical teams, lack of psychosocial support, and systemic fragmentation. These challenges lead to emotional distress, gendered caregiving burdens, and suboptimal health outcomes for children.

2. Methodology

• Study Design: A qualitative study based on Giorgi's descriptive phenomenology, aiming to uncover the meaning of lived experiences.
• Setting: Two major Colombian cities: Bogotá and Cali, representing diverse ethnicities and socioeconomic contexts (high labor informality, income instability).
• Participants:
  • Sample Size: 25 family caregivers (24 mothers, 1 father).
  • Selection: Purposive sampling from public high-complexity healthcare institution registries.
  • Inclusion Criteria: Caregivers of children (0–8 years) with CCAs attending public SGSSS entities in the last five years.
  • Diagnoses Covered: 10 different types of CCAs, with Cleft Lip/Palate being the most common (9 cases), followed by Craniosynostosis (5 cases).
• Data Collection:
  • Techniques: Semi-structured interviews (10 participants) and Focus Groups (15 participants).
  • Format: Face-to-face (homes/university) and online (Google Meet) to accommodate caregivers' schedules.
  • Duration: Interviews averaged 60 minutes; focus groups averaged 70–90 minutes.
• Data Analysis:
  • Software: MAXQDA®.
  • Process: Thematic analysis following three steps: (1) Familiarization with data, (2) Identification of meanings and themes, and (3) Organization into a meaningful whole.
  • Rigor: Ensured through transferability (broad data collection), credibility (triangulation of techniques and researcher consensus), reliability, and confirmability.
• Ethics: Approved by the Institutional Ethics Committee of Universidad El Bosque; informed consent obtained; adhered to the Declaration of Helsinki.

3. Key Contributions

• Contextual Insight: Provides the first in-depth phenomenological exploration of caregiver experiences specifically within the Colombian public health context, highlighting the intersection of systemic fragmentation and cultural gender norms.
• Identification of Structural Gaps: Moves beyond clinical outcomes to identify systemic failures, such as the absence of clear referral pathways and the lack of standardized protocols for CCA management in high-complexity institutions.
• Gender Analysis: Explicitly documents the "gendered caregiving burden," quantifying how caregiving responsibilities fall almost exclusively on mothers, impacting their mental health, professional trajectories, and economic stability.
• Coping Mechanisms: Highlights the dual nature of coping strategies, where families rely on both active information seeking (self-advocacy) and spiritual resilience ("holding on to God's hand") due to a lack of institutional support.

4. Key Results

The analysis generated three primary categories with emergent themes:

A. Diagnosis and its Impact on the Family

• Late and Ambiguous Diagnoses: Prenatal diagnosis is often missed; postnatal diagnoses are frequently delayed or delivered with poor clarity, causing distrust.
• Pessimistic Medical Communication: Healthcare teams often convey a "disability-centered" view with pessimistic prognoses (e.g., "the child will never walk"), inducing guilt and depression in caregivers.
• Lack of Psychosocial Support: A critical absence of counseling leads to feelings of isolation and self-blame (e.g., "it was my fault").
• Coping Strategies: Caregivers actively search for external information and rely heavily on family networks and faith to manage emotional distress.

B. Experiences with Healthcare Services

• System Fragmentation: There is a lack of clear care pathways. Caregivers report being bounced between specialists who refuse to treat specific cases ("I don't treat those cases").
• Accessibility Issues: Significant delays in authorizing surgeries and therapies. Access to specialized care is often restricted by bureaucratic hurdles.
• Pandemic Impact: The COVID-19 pandemic exacerbated barriers, canceling appointments and limiting access to necessary physical therapies.
• Role of NGOs: Non-profit organizations often fill the gap left by the public system, providing surgeries and emotional support when state entities fail.
• "Angels in White Coats": Caregivers place immense value on individual compassionate professionals who act as guides, contrasting sharply with the general system's coldness.

C. Caregivers' Role and Daily Activities

• Absorbing Task: Caregiving is described as a 100% commitment that reconfigures personal and professional lives.
• Emotional and Physical Strain: Constant vigilance is required (e.g., protecting a child with an open skull), leading to chronic anxiety.
• Gender Overload: Mothers bear the sole responsibility for medical coordination and daily care, often forcing them to leave the workforce or work from home, reinforcing traditional gender roles.

5. Significance and Recommendations

The study concludes that the current healthcare model for CCAs in Colombia is fragmented, non-continuous, and lacks a patient/family-centered approach. The emotional and logistical burden on caregivers is unsustainable and disproportionately affects women.

Strategic Recommendations:

1. Systemic Restructuring: Implement clear, coordinated care pathways and referral protocols specifically for CCAs to reduce fragmentation.
2. Training for Professionals: Mandate comprehensive training for healthcare personnel (from academia to practice) focusing on:
   • Humanized communication (avoiding pessimistic language).
   • Psychosocial support skills.
   • Gender-sensitive care approaches.
3. Psychosocial Integration: Integrate psychological support and counseling immediately upon diagnosis to mitigate trauma and guilt.
4. Policy Shift: Develop inclusive health programs that recognize the differential needs of families and alleviate the gendered burden of caregiving through structural support.

This research underscores the urgent need to shift from a purely biomedical model to a holistic, family-centered model that addresses the emotional, social, and systemic realities of caring for children with congenital anomalies in low-resource settings.