Roadmap No diagnosis Ongoing Management
Back to roadmapWhen a diagnosis has not been identified, management is based on presenting signs and symptoms. Regular follow-up is vital to both monitor persisting features and keep track of any changes. The absence of a diagnosis emphasises that each person is unique, will develop at their own pace and require different management depending on their individual needs.
Health care providers
Combinations of different health care providers often contribute to managing immediate health issues, monitoring growth and development, and tailoring ongoing care to an individual’s needs. Explaining why you/your child remains undiagnosed can be a frequent experience. Providing possible reasons can be helpful such as; it could be a unique condition that has not been previously reported, signs/symptoms are not typical for a known condition or there have been findings from genetic testing that have unknown significance.
Resources
General information about support and management for families living with undiagnosed conditions.
- UDNF | what is an undiagnosed disease
- Contact UK | support when your child does not have a diagnosis
- Contact UK | living without a diagnosis
- Searching for a diagnosis | Child Neurology Foundation
Summaries of general terms used by health professionals as well as community sources in reference to rare and undiagnosed diseases.
- Rareportal | commonly used terms in rare disease care
- National Human Genome Research Institute | genetics glossary
Easy read booklets about genes and genetic conditions.
Discusses and supports the essential role of parents/patients as experts in their own condition.
Rare Disease education for medical professionals:
Medics 4 Rare Diseases: education site for medical professionals with little prior knowledge in rare diseases. Courses can be recommended to GPs or others involved in your/your child’s care.
Mendelian: assistance and guidance for GPs in diagnosis and management of rare diseases. Information/link can be provided to your/your child’s GP.
Specialist care for rare/undiagnosed diseases by geographical areas:
Rare Diseases International Resource Maps with information about rare disease policies, health systems/specialists/centers of excellence and patient organizations in specific countries:
African and East Mediterranean regions
South-East Asia and Western Pacific regions
The Americas regions
List of rare disease specialist centers in the US:
Search for rare disease expert networks and centres in Europe:
Requests for retesting
When genetic assessment and testing has not identified the cause of a your/your child’s signs and symptoms, 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
Information about access to Undiagnosed Diseases Programs (UDP), bringing together clinical and research experts with the aim of finding diagnoses.
- Undiagnosed Diseases Network (Harvard) | UDN
- Undiagnosed Diseases Network Australia | for families
- Wilhelm Foundation | undiagnosed diseases programs
Undiagnosed Diseases Network International (UDNI) for patients/families who have already participated in a UDP and remain without a diagnosis:
Family/patients area:
Therapies
Even without a diagnosis, a variety of health care providers may fulfil different therapeutic roles and good communication is essential in establishing 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.
Information about access to therapies for specific countries/regions is often not available online. Contact with general practitioners, paediatricians and support organisations can be helpful in finding out more for your area.
Resources
Information about organisations providing disability services in specific countries/regions: Africa, Asia, Caribbean, Europe, Middle East, Oceania and The Americas.
Australian government parenting website with practical guidance for choosing therapies, supports and early interventions for children 0-9 years with disability, autism, or other additional needs.
US government website with milestone tracking information and early intervention contacts by state/commonwealth/territory divided into under 0-3 years and over 3 years of age.
UK charity with a range of services including practical and emotional care as well as support services.
UK charity promoted by the NHS (National Health Service) providing information about diagnosis and health services.
General information about support and management for families living with undiagnosed conditions.
- Contact UK | support when your child does not have a diagnosis
- Contact UK | living without a diagnosis
Health care records
Creating and maintaining a central place for recording and organizing information helps with continuity of services as well as allowing you/your family to take an active role in ongoing healthcare. Templates and tools are available to aid communication with providers who are central to 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
Practical step-by-step guide for creating a personal care notebook.
Fillable care notebook with template pages for organising health care information.
- Exceptional Children's Assitance Center | care notebook fillable templates
- Health Queensland | Julian's health passport
- National Health Service UK | hospital passport
Suggest a resource: send email to gcwg@udninternational.org