Resources for patients
Are you an adult with a rare genetic disease?
Look through our resources below.
Living with a disorder
Dealing with doctors and medical teams
Learn more about what to expect from medical treatment and the questions you might like to ask your clinicians.
Managing care at home
Practical advice for making daily routines more manageable, how to talk about the condition with a child and their siblings, and the external support that’s available.
Managing care when out and about
Get advice about handling school, leisure activities and family vacations, and how to manage treatments when you’re not home.
Living with a rare genetic disorder
Where to start with SAVI or a RGD?
First, we set out initial steps that might be of interest to you in our roadmap.
Next, check out the helpful articles and resources on this website
Would you find it useful to link up with others who have experienced rare disease?
When ready, would you be able to share your own experiences and/or offer support to
other families who are just receiving rare disease diagnoses?
A potential roadmap
What the road head might look like
Early phase: understanding and diagnosis
The beginning often involves gathering information and making sense of what is happening.
- Appointments, tests, medications and new medical language
- Meeting specialists and building a care team
- Adjusting to uncertainty and evolving information
It is common for this stage to feel overwhelming. You do not need to have everything figured out at once.
Establishing care and routines
Over time, many families begin to find a workable rhythm.
- Developing routines around medications and monitoring
- Coordinating appointments and communication between providers
- Adjusting daily life (school, activities, rest) as needed
Routines may shift. Flexibility is part of the process.
Building a support system
Sustainable care is supported by connection.
- Partnering with healthcare teams
- Communicating with schools and caregivers
- Identifying practical and emotional supports (family, peers, community, professionals)
Support often grows gradually and can change over time.
Living and adapting over time
Families continue to adapt as needs evolve.
- Monitoring health and adjusting care plans
- Supporting your child’s development, independence, and identity
- Making space for family life beyond illness
Your child is more than their condition, and family life can hold both care and joy.
Ongoing uncertainty and change
SAVI can be variable, and plans may need revisiting.
- Periods of stability and periods of increased care
- Decisions may be revisited as new information emerges
- It is okay to seek second opinions or ask questions
There is no single “right way” to navigate this. You are learning, adapting, and supporting your child in the ways that matter most.
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Mother of a patient
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