Roadmap Rare diagnosis Ongoing Management

Ongoing health management is vitally important for staying well and planning for the future.

Combinations of different health care providers often contribute to this process. Becoming an expert on your/your child’s rare condition in order to educate others including health professionals is a frequent experience.

Resources

• https://www.navigatelifetexas.org/en/diagnosis-healthcare/my-child-has-a-diagnosis.-where-do-i-start
• https://www.navigatelifetexas.org/en/diagnosis-healthcare/children-with-multiple-disabilities-rare-conditions-undiagnosed
• https://cerebra.org.uk/download/after-diagnosis-what-now/
• https://resource-hub.globalgenes.org/kb/article/298-gene-based-diagnosis-101/
• https://www.pcpcc.org/about/medical-home

Therapies

The majority of rare conditions have not had specific therapies identified for treatment and management due to a small number of people affected and lack of available information.

Therapies are 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 treatment depending on their individual needs.

Despite a diagnosis being identified, accessibility to funding for therapies may be challenging as a result of limited knowledge and recognition of rare diseases by funding organisations. Different professionals 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.

Resources

• https://raisingchildren.net.au/disability/services-support/services/choosing-early-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 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.

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​