The Challenge of the Diagnostic Odyssey in Rare Diseases

The main themes that emerged from the interviews with parents of children in the Western Australian Undiagnosed Diseases Program were:

1. The need to respond to the significant care needs of their children, encompassing not only the health system, but also other systems such as education and disability services.
2. Parents become the navigators, experts and defenders of their children, taking on a fundamental role in the search for answers and care.
3. The diagnostic odyssey, representing the rollercoaster journey towards a diagnosis, including the attribution of various names to the child’s condition and the impact of not having a diagnosis.
4. Parents’ views on the value of a diagnosis and the expectations associated with it, highlighting the importance of finding answers to better care for their children.

Parents navigate the complex systems of health, education and disability services while seeking a diagnosis for their children in various ways:

1. They become their children’s navigators, experts and advocates, taking responsibility for coordinating care and ensuring that all needs are met.
2. Parents share complex information about their child’s health condition with health professionals, often having to explain unusual symptoms and request specific investigations.
3. Some parents carry out research on their own, proposing possible diagnoses and investigations to health professionals based on their own analysis and knowledge.
4. They seek second opinions and don’t hesitate to look for other sources of information to ensure that they are making the best decisions for their children.
5. Many parents report discovering new perspectives on life and experiencing personal growth along this challenging journey, finding strength in family and support groups when available.

The implications of not having a diagnosis on families and children living with undiagnosed conditions include:

1. Challenges in care: Families face difficulties in providing adequate care due to a lack of guidance on the treatment and management of the child’s condition.
2. Emotional stress: Uncertainty and lack of answers can lead to high levels of emotional stress for parents and children, affecting their mental health and well-being.
3. Barriers to access: The absence of a diagnosis can result in difficulties in accessing specialized health services, adequate education and social support, harming the child’s development and quality of life.
4. Isolation: The lack of a specific diagnosis can lead to social isolation, as families can feel disconnected from others who share similar experiences.
5. Limitations in future planning: Without a clear diagnosis, families may find it difficult to plan for the child’s future, including the education, therapies and support needed to improve their quality of life.

In summary, the lack of a diagnosis can have a significant impact on families and children living with undiagnosed conditions, highlighting the importance of seeking answers and adequate support to improve their quality of life and general well-being.