Roadmap Rare diagnosis Ongoing Management

Most rare conditions have not had specific treatments and health care guidelines established due to small numbers of people with the same diagnosis and lack of available information. Management is therefore generally based on presenting signs and symptoms. It is important to keep in mind 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.  As many will have no prior knowledge or experience with a particular rare diagnosis, family members/carers often become experts on the condition and play a major role in educating others.

Resources

Summaries of general terms used by health professionals as well as community sources in reference to rare diseases.

• Rare Portal | commonly used terms in rare diseases
• National Human Genome Research Institute | genetics glossary

Easy read booklets about genes and genetic conditions.

• GeneEQUAL | Easy read
• GeneEQUAL | About Genetic Healthcare

Discusses and supports the essential role of parents/patients as experts in their own condition.

• The Mighty | I'm not a doctor but that doesn't mean I'm not an expert on my child's 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.

• Medics4Rare | learn

Mendelian: assistance and guidance for GPs in diagnosis and management of rare diseases. Information/link can be provided to your/your child’s GP.

• Mendelian | the role of the GP in rare disease diagnosis and care

Specialist care for rare 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

• Rare Diseases International | resource map AFROEMRO

South-East Asia and Western Pacific regions

• Rare Diseases International | resource map SEARWPR

The Americas regions

• Rare Diseases International | resource map AMR

List of rare disease specialist centers in the US:

• National Organization for Rare Disorders | centers of excellence

Search for rare disease expert networks and centres in Europe:

• Orphanet | expert-centres

Emergency guidelines

Expert-authored and reviewed Emergency Guidelines for specific diseases, which are intended to guide health professionals in emergency situations. Translations available in French, German, Spanish, Italian and Portugese.

• Orphanet | rare disease emergency guidelines

Clinical descriptions of rare diseases

Clinical description of rare diseases using sets of signs and symptoms (phenotype).

• Orphanet | rare disease signs

Orphan drugs (medicines for some rare diseases)

List of drugs at all stages of development for a specific rare disease or a group of rare diseases. Search by disease or drug name.

• Orphanet | rare disease drug development

Therapies

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 on activity limitation/participation restriction (functional consequences) described in rare diseases.

• Orphanet | functional impact of rare diseases

Information about organisations providing disability services in specific countries/regions: Africa, Asia, Caribbean, Europe, Middle East, Oceania, The Americas.

• Disability Support International | directory 

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.

• Raising Children Network | early childhood interventions and therapies

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.

• Center for Disease Control | why act early if you're concerned about child development

UK charity with a range of services including practical and emotional care as well as support services.

• Action for children UK | find your local services

UK charity promoted by the NHS (National Health Service) providing information about diagnosis and health services.

• Contact UK | medical and health information

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.

Resources

Practical step-by-step guide for creating a personal care notebook.

• Global Genes | care notebook toolkit

Fillable care notebook with template pages for organising health care information.

• Exceptional Children's Assistance Center | fillable templates for care notebook
• Health Queensland | Julian's health passport
• National Health Service UK | health passport

Suggest a resource: send email to gcwg@udninternational.org​