What is this survey about?
The Ciliopathy Alliance is keen to know more about the needs of children and families affected by 'ciliopathies'. These are rare and ultra-rare inherited conditions or syndromes, which are caused by genetic abnormalities in parts of human cells called 'cilia'. These abnormalities or mutations happen in many different organs and give rise to a range of health problems such as blindness, deafness, heart, liver and kidney diseases.
When your child was diagnosed, you will have been given the more common name of the ciliopathy condition, for example Bardet-Biedl Syndrome, Joubert or PKD. Or you may have been told that your child has an 'unknown ciliopathy'. If you are not sure that your child has a ciliopathy, please contact Tess at the Ciliopathy Alliance (details below) before starting the survey.
Your answers to this survey will help us campaign for better, coordinated health and social care services in the UK and raise awareness of the challenges you face daily. Doctors, nurses, social workers, teachers and civil servants may not understand what it is like to live with a rare complex ciliopathy condition and this is our opportunity to tell them.
What topics are covered in the survey?
We will ask how the child you care for is affected medically, socially and personally. We would like to know how this condition has changed things with your family and friends, your job, your daily life.
We need to ask all sorts of questions so that we can explain to other people how being diagnosed with a ciliopathy affects your life. The survey covers a wide range of different ciliopathy conditions, so don’t worry if your child hasn't had any of the symptoms or experiences listed. Everyone is affected differently. During the survey, if there are any words or terms that are new to you or you are uncertain about them, please contact the Ciliopathy Alliance - details below.
Will my answers be kept confidential?
The survey is completely anonymous. We will ask some general questions about your age, gender and ethnic background but nothing that will identify you personally. We will keep the data securely for 3 years and then destroy all electronic and paper records.
Do I have to answer all the questions?
You can skip any of the questions and you can stop the survey at any time, without giving a reason.
Are there any risks to me if I take part in this survey?
We don't expect any harm from completing the survey. We’ve designed and tested the questions carefully, with the help of patients, parents and research experts. The Ciliopathy Alliance trustees reviewed and approved the survey. The survey was funded by a grant from the Big Lottery Awards for All programme.
It is possible that you might feel uncomfortable or embarrassed by some of the questions. You may, for instance, get upset when thinking about the effects of the condition on you and your family. You don't have to answer every question and if you feel distressed at any time, you can either skip the questions or stop the survey completely.
What will happen to the results of this survey?
We’ll publish a full report that anyone can read and use this to tell others about living with a ciliopathy, for example the media, GPs and politicians.
How to contact the Ciliopathy Alliance
You can email Tess Harris: firstname.lastname@example.org. You can also ring the office on 020 7387 0543. Do leave a message if no-one is there and we'll ring back as soon as possible.
Ready to begin?
Before you start, we recommend that you find a copy of a recent hospital or GP letter to remind yourself about symptoms, clinic visits or other relevant information. If you have more than one child affected, please complete separate surveys for each.
We estimate it will take around 15-20 minutes to complete. You can save at the end of each section and return to the survey if you are interrupted.
Tick one box only, unless the question says otherwise. We regret that we can only include results from people living in the UK.
Thank you very much!