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Making the right connections since 1988

Often a diagnosis provides relief from anxiety and frustration associated with not knowing what's wrong with yourself or your child. And sometimes a diagnosis can unearth more questions, especially in the case of rare conditions.

Genetic Alliance Australia has been involved in research looking at Australian rare disease patients and their experiences with the health care system. To assist patients and families with gaining more information about their diagnosis, a checklist of questions to ask your healthcare professional(s) has been developed by the researchers involved in the project. 

Checklist of questions to ask when first diagnosed

Disease Characteristics

  1. What is this disease? (explanation of the disease)
  2. How common is it?
  3. What causes the disease? How/why did I get it?
  4. Is it genetic/inherited? Can I pass it on to my children?
  5. Is the disease curable?

Impact of Disease

  1. What does it mean for me?
  2. How will it affect me and my health? What will be the impact on my daily life?
  3. What are the symptoms? Will this change over time?
  4. What is the progression of the disease?
  5. Is it likely to get worse?
  6. What is the prognosis?
  7. What can I expect? What does the future hold for me?
  8. What is the likely outcome?
  9. What quality of life can I expect?
  10. What is the life expectancy with this disease? How long will I live for?
  11. What are my chances of survival?


  1. What are all the treatment options available? What are the alternatives?
  2. What medications should I take? What are the side effects? What are the pros and cons?
  3. What will the outcome of treatment be?
  4. Can I have a treatment plan?
  5. How can I manage pain?
  6. How do I find a specialist to treat my disease?


  1. Is there a support group for my disease? If so, what is the name of the support group?
  2. How can I connect to other people who have this disease?
  3. What support, help and advice is available and how do I access it?
  4. What financial/income help is available?
  5. Where else can I get good information from? Any websites? Printed information?
  6. Where can I get counselling?


  1. What do I do now?
  2. How can I manage the disease? How do I live with the disease?
  3. How can I manage my day-to-day living?
  4. What changes should I make to my lifestyle?
  5. How do I avoid or delay the onset of symptoms?


  1. What research is being conducted on my disease?
  2. How can I access research such as clinical trials?

Call on +61 2 9295 8359 for more information.

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