Family experience with osteogenesis imperfecta type 1: the most distressing situations
Margarida Custódio Dos Santos1,2, Ana Filipa Pires1, Kelly Soares1
1a Faculdade de Psicologia , Universidade de Lisboa , Lisbao , Portugal.
Insights
Osteogenesis imperfecta (OI) significantly impacts families, with pain, fractures, and hospitalizations being most distressing. Comprehensive, family-centered care is crucial for rehabilitation and support.
Area of Science:
- Medical Genetics
- Pediatric Psychology
- Family Medicine
Background:
- Osteogenesis imperfecta (OI) is a rare genetic disorder causing brittle bones.
- Research on OI primarily focuses on biomedical aspects, neglecting psychosocial impacts.
- This study investigates the distressing experiences of children with OI type 1 and their families.
Purpose of the Study:
- To identify the most stressful situations for children with OI type 1, parents, and siblings.
- To understand the subjective experiences of family members coping with OI.
- To inform family-centered care and rehabilitation strategies.
Main Methods:
- Qualitative study involving seven families with children diagnosed with OI type 1.
- In-depth, semi-structured interviews with open-ended questions.
- Audiotaped interviews analyzed using qualitative discourse analysis.
Main Results:
- Pain, fractures, hospitalization, home recovery, and school reentry were identified as major challenges.
- Experiences varied among family members (patients, parents, siblings).
- Parents uniquely identified the time of diagnosis as a significant stressor.
Conclusions:
- OI affects the entire family, necessitating a family-centered approach to care.
- Rehabilitation should integrate educational and psychological support for all family members.
- Effective communication from healthcare providers is vital for successful rehabilitation.
Background:
Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by decreased bone mass and increased bone fragility. Despite increasing research on the biomedical aspects of the disease, only a few studies focus on the psychosocial implications of living with OI. This study aimed to explore the situations that are perceived by OI type-1 children, their parents and siblings, as being the most distressing and stressful in their experience with the disease.
Methods:
Seven families of children diagnosed with OI type 1 for longer than four years participated. An in-depth semistructured interview with open-ended questions was used to separately collect each participant's (mother, father, patient and sibling) subjective report of their experience. Interviews were audiotaped and a qualitative discourse analysis was performed.
Results:
Pain and fractures, hospitalization, home recovery, back to school and time of diagnosis emerged as the most challenging situations. Time of diagnosis was only mentioned by parents. Some commonalities but also relevant differences in the subjective experience of the same situations, depending on the family role, were found.
Conclusions:
Our results reinforce the assumption that OI is a family matter and point to the importance of providing comprehensive and family-centered health and educational services tailored to each family member and to the different situations faced by these families. Implications for rehabilitation Osteogenesis imperfecta is a chronic rare disease that impacts severely the patient's life and the life of all family members. The most distressing situations are related to fractures and pain, hospitalization, recovery from fractures while being at home and preparing for school reentry. All family members participate in the rehabilitation process, each one accomplishing different tasks. Rehabilitation should include educational and psychological intervention to enhance family strengths and support all family members. Tailored and effective communication from health providers may play a critical role in the rehabilitation process.
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