Practical information & support

Resources & guides

Clear, practical information for people living with rare or undiagnosed conditions, their families and support people.

Find information to help you navigate diagnosis, healthcare, support services, family wellbeing, disability supports, research and planning for the future. Start with what is useful to you now and return as your needs change.

Start with Rare Kids Rare Condition Passports

Rare Kids

Newly diagnosed? Start here.

Receiving a rare condition diagnosis can bring a lot of new information at once. Rare Kids is for people who are newly diagnosed, their families and support people, and provides a starting point for understanding and navigating what comes next.

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For people & families

Rare Kids

A starting point after a rare condition diagnosis.

Rare Kids has been created for people who are newly diagnosed with a rare condition, together with their families and support people.

Watch the video for practical information to help you begin navigating a rare diagnosis and finding the support and resources that may be useful to you.

A place to begin

  • Understand some of the next steps after diagnosis
  • Find information and resources that may help
  • Learn where to look for support

Family guide library

Find the information that fits your journey

Download the full guides as PDFs. You can read them in order or go directly to the topics most relevant to your family.

Undiagnosed children Family guide

A path without a name

A guide for families of undiagnosed children still looking for answers

This guide is for families who have been told their child may have a genetic or rare condition and are waiting for test results, or who still do not have an answer after initial testing.

It may be useful when: your child is undergoing investigations, your family is waiting for a diagnosis, or you need help finding support before a diagnosis is confirmed.

Inside this guide

  • Finding answers
  • Healthcare teams
  • Community support
  • NDIS and financial help
  • School and daily life
  • Research and planning
PDF · 36 pages · Opens in a new tab View or download the guide
Children with rare conditions Family guide

Rare Kids

A guide for families navigating a rare condition

This guide is for families whose child has recently received a diagnosis, is still looking for answers, or has been navigating a rare condition for some time.

It may be useful when: you want a broad overview of healthcare, disability supports, family wellbeing, research and planning across the rare condition journey.

Inside this guide

  • Healthcare teams
  • Peer and community support
  • Mental health and siblings
  • NDIS and financial support
  • Research and clinical trials
  • Genetics and future planning
PDF · 32 pages · Opens in a new tab View or download the guide

Condition & treatment guides

Information for specific conditions, treatments & care

Find practical information and trusted resources for people living with rare conditions, families and support people. Some resources are available directly from Rare Diseases NSW, while others link to the organisation responsible for maintaining the information.

Family fact sheet

UNSW Sydney

Newborn screening for spinal muscular atrophy (SMA)

Family overview of the Australian and New Zealand clinical guideline

An accessible overview of the clinical guideline for newborn screening for spinal muscular atrophy in Australia and New Zealand.

The fact sheet helps families understand the guideline, how it was developed and what its recommendations mean for children and families following newborn screening for SMA.

What you'll find

  • An overview of the newborn screening guideline
  • Key findings and recommendations
  • Information about how the guideline was developed
  • What the recommendations mean for families
View family fact sheet

Opens the authoritative UNSW Sydney resource

Family guidebook

Kleefstra Syndrome Clinic · Sydney Children's Hospital

Kleefstra Syndrome Guidebook

Information and support for families following a Kleefstra syndrome diagnosis

This guidebook was prepared by the Kleefstra Syndrome Clinic team at Sydney Children's Hospital to help parents better understand Kleefstra syndrome (KLFS) and navigate the first steps following their child's diagnosis.

It brings together practical information about the condition, healthcare, recommended health checks, support, community and research, while recognising that every child with Kleefstra syndrome is different.

What you'll find

  • Kleefstra syndrome facts and genetics
  • Healthcare teams and recommended health checks
  • Kleefstra Syndrome Clinic information
  • NDIS, community and family support
  • Caring for yourself and sharing with family and friends
  • Research, future directions and further resources
Download guidebook (PDF)

PDF · opens in a new tab

Family handbook

Sydney Children's Hospitals Network

Advanced Therapies Handbook

Helping parents and carers understand advanced therapies used to treat some rare conditions

Developed by Sydney Children's Hospitals Network, this online handbook helps parents and carers learn about advanced therapies that may be used in the treatment of some rare conditions.

Families can explore the handbook at their own pace, with information, practical resources and educational videos featuring SCHN experts.

Explore information about

  • Cell therapy
  • Deep brain stimulation
  • Gene therapy
  • Neuro-immunotherapy
  • Phage therapy
  • Videos, checklists, FAQs & support resources
Explore the handbook

Opens the authoritative SCHN resource

About these resources

Trusted information, with the source made clear

Resources may be developed or hosted by different clinical, research and community organisations. We make the source clear so you know who developed the information and where to look for updates.

  • Where another organisation maintains a resource, we link directly to its authoritative website.
  • Where a resource is made available through Rare Diseases NSW, we provide direct access to the resource.
  • The organisation or clinical team responsible for each resource is identified alongside it.

Using the resources

Use the guides in the way that works for you

These are reference guides, not homework. Read what is useful now and return to other sections as your family’s needs change.

Start with what matters now

Use the contents page to go directly to the topic your family needs today. You do not need to read the guide from beginning to end.

Take it to appointments

Save the PDF on your phone or bring a printed section to appointments when it may help you ask questions or discuss next steps.

Share it with your support network

Relevant sections may be useful for family members, support people, educators or healthcare professionals who want to understand your situation.

Check current details

Services, eligibility requirements, payments and contact details can change. Confirm important information directly with the relevant organisation.