Roadmap No diagnosis Ongoing Management
Back to roadmapOngoing health management is vitally important for staying well and planning for the future.
Combinations of different health care providers often contribute to this process. When a diagnosis has not been identified, regular follow-up is essential to both monitor signs/symptoms and keep track of any changes. Many families also experience difficulties with needs being taken seriously, even when the affected person has significant disabilities (e.g. perceptions/judgements made by other parents and health professionals).
Organised records, seeking multiple opinions and understanding testing options can help with these issues.
Resources
- https://www.genome.gov/FAQ/Learning-About-an-Undiagnosed-Condition-in-a-Child
- https://rarediseases.org/for-patients-and-families/information-resources/patient-and-caregiver-resource-center/undiagnosed-rare-disease-patients/
- https://globalgenes.happyfox.com/kb/article/18-becoming-an-empowered-patient-a-toolkit-for-the-undiagnosed/
- https://www.navigatelifetexas.org/en/diagnosis-healthcare/children-with-multiple-disabilities-rare-conditions-undiagnosed
- https://www.undiagnosed.org.uk/support-information/what-does-swan-or-being-undiagnosed-mean/
- https://resource-hub.globalgenes.org/kb/article/298-gene-based-diagnosis-101/
Requests for retesting
When genetic assessment and testing has not identified the cause of your/your child’s health problems, it may be appropriate to request follow-up with local genetic services in the future to discuss retesting.
Genetic technology moves quickly and an approximate timeframe of two years from previous testing would be reasonable in most situations if signs and symptoms have persisted or progressed. Direct contact with the local genetic service to discuss individual circumstances is recommended as the first step.
Resources
- https://www.genetics.edu.au/SitePages/Uninformative-result.aspx
- https://medlineplus.gov/genetictesting.html
Therapies
Therapy options available should be based on presenting signs and symptoms, however accessing assessments and services without a “label” (e.g. filling in forms/addressing assessment criteria) in the absence of a diagnosis can be challenging.
Different professionals may fulfil different therapeutic roles and good communication is essential. Even without a diagnosis, it is still possible to establish strong working relationships based on common goals, trust and shared responsibility. Managing therapy needs can be complicated and time-consuming however assistance from sources such as case managers and family service plans may help reduce the load on carers.
Resources
- https://raisingchildren.net.au/disability/services-support/services/choosing-interventions
- https://raisingchildren.net.au/disability/school-play-work/learning-behaviour/teaching-skills-to-children-with-disability
- https://raisingchildren.net.au/disability/school-play-work/learning-behaviour/helping-children-with-disability-learn
- http://www.sourcekidsdirectory.com.au/
- https://www.healthychildren.org/English/family-life/power-of-play/Pages/default.aspx
Health care records
Careful record keeping helps with building your/your child’s health history and may guide future investigations and care.
Creating and maintaining a central place for gathering and organizing information helps with continuity of services and allows you/your family to take an active role in ongoing healthcare. Different organizational tools are available to help prepare for talking with people who are central to providing medical care, insurance coverage and support. In the absence of a diagnosis, support letters from clinicians confirming signs/symptoms can be very helpful in substantiating health histories and accessing services.
Resources
- https://globalgenes.org/wp-content/uploads/2018/11/GG_toolkit_care-notebook_FINAL1.pdf
- https://www.cabarrushealth.org/DocumentCenter/View/40/Care_Notebook-_English2?bidId=
- https://cid.org.au/resource/my-health-matters-folder/
Suggest a resource: send email to gcwg@udninternational.org