What truly matters in rare disease care?
We’re inviting people living with a rare disease — and those who care for them — to try out a new questionnaire built specifically to capture what healthcare experiences are really like for you. This questionnaire has been developed in a research collaboration between RDI, EURORDIS-Rare Diseases Europe and UCD School of Nursing, Midwifery and Health Systems and is designed with input from people with lived experience of rare diseases.
WHAT IS THIS?
A NEW KIND OF QUESTIONNAIRE – designed around your experiences
Healthcare teams around the world use questionnaires to learn what it’s actually like to be a patient. These are called patient reported experience measures – or PREMs for short. Existing PREMs were not built with people living with rare diseases in mind. They miss the things that matter most to you: long diagnostic journeys, shortage of specialist expertise, navigating complex care across multiple providers, and the emotional toll that comes with living with a condition few people understand.
This new questionnaire was designed specifically for the rare disease community. Your responses will help us to test and refine the questionnaire and ultimately assess and improve the experiences of people in situations like yours. WOR
HOW IT WORKS
1. Click the link
You’ll be taken to the questionnaire in your browser — no account or login needed.
2. Answer at your pace
The questions cover your healthcare experiences. There are no right or wrong answers — only your perspective. The questionnaire takes about 20 minutes to complete.
3. Submit when ready
Your responses are anonymous and confidential. They go directly to the research team. They will never be shared outside the research team.
4. Make a difference
Your input shapes how this tool is developed and how rare disease care will be understood and delivered in the future.
SHOULD I TAKE PART?
THIS IS FOR YOU IF…
You are living with a rare disease — or you are a caregiver, family member, or close supporter of someone who is. You don’t need any medical or research background. All we ask is that you share your honest experience of healthcare. Every response counts, especially from communities that are often left out of research.
COMMON QUESTIONS
What should I expect when I enter the questionnaire?
To begin with there is a welcome page and an information sheet outlining the study and why it’s being done, what is involved in taking part and how your data will be used. The questionnaire consists of 12 sections, amounting to approximately 30 questions most of which ask you to rate how much you agree or disagree with the statement. The final question allows you to give feedback on the questionnaire and its usefulness.
Do I need to know anything about research or medicine to take part?
Not at all. The questionnaire is written in plain language and simply asks about your own experiences. No specialist knowledge is needed.
Will my answers be kept confidential?
Yes. Your responses are fully anonymous. No identifying information is collected, and your answers cannot be traced back to you personally.
Does it matter which rare disease I have?
No. The questionnaire is designed to be relevant across the full range of rare diseases, be they genetic disorders, rare cancers, rare infections or as a result of environmental factors. Whether you were diagnosed recently or many years ago, your experience is valuable.
Can I take part if I’m a caregiver rather than a patient?
Absolutely. Caregivers play a vital role and often have unique insights into what care looks and feels like. Your perspective is just as important. There is a questionnaire specifically designed for you to answer.
What happens with the results?
The responses will be analysed to test and refine the questionnaire so it can eventually be used more widely to improve rare disease care in Ireland and internationally.
WANT MORE INFORMATION?
If you want more information you can watch this short promotional video or you can watch the webinar that was held at the launch of this research. You can also contact us directly on research@rdi.ie with your questions.
Ready to share your experience?
It takes around 30 minutes and your voice will help shape better care for the rare disease community.
