Ring20 Patient Survey

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patient survey

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Your contribution to this study will be instrumental in advancing our understanding of Ring Chromosome 20 and improving support for individuals and families affected by this condition. Ring20 sincerely appreciate your time, willingness, and commitment to this important endeavour.

NEW!! International Research Study on Living with Ring Chromosome 20

We want to hear from as many families as possible, what living with r(20) is really like, in your experience.
This is a different study from our planned Natural History Study with Glasgow Children’s Hospital (which is not yet ready to proceed) because:

  1. We are solely focusing on the patient family perspective (not medical records)
  2. We want to know what impact an r(20) diagnosis has on individuals and families

The information that you provide will help to inform  future resarch studies in r(20).

Why are we doing this?

Research published on Ring Chromosome 20 has historically centred on information gathered by doctors from medical records or reports, and studies have typically been limited to small numbers of patients at a specific point in each patient’s lifetime. By collecting experiences directly from individuals or their parents/caregivers we want to see if your experiences can add any new knowledge to what has been documented about living with r(20).
Your unique perspective and experiences are invaluable to us, and we would be honoured if you would consider participating in our research study.

Will this benefit me/my child?

The knowledge gained from this study will serve to raise awareness among the wider population and potentially improve support and care for individuals affected by this rare condition.

Who is eligible?

The study is available to all  individuals and their families who are living with a ring chromosome 20 worldwide.
Some of our Ring20 Champions (who speak a native language other than English) will be able to conduct interviews in a few other languages where appropriate including: French, Dutch, Italian, Portuguese, Japanese.

What will I have to do?

You will be invited for a video interview conducted by members of our research team or your Ring20 Champion, who specialise in Ring Chromosome 20 and are passionate about making a difference.
The interview is expected to last approximately 45 minutes to an hour, allowing ample time to discuss each topic in detail. We will utilise a set of survey questions as a framework to ensure comprehensive coverage of the relevant aspects, while also providing flexibility to address any additional points you may wish to share.

You can choose to answer the interview as either:

  • an adult aged 18 or over living with r(20) – with or without your parent(s) support
  • parent(s)/carer(s) of someone living with r(20)

You only need to request one interview session per family for a person living with r(20).

What information will I be asked to provide?

During the interview, we will discuss various topics related to living with a Ring Chromosome 20 diagnosis. These topics will include, but are not limited to:

  1. Challenges of Diagnosis: We would like to understand the difficulties and emotions that arose during the diagnostic process and how they impacted you or your child.
  2. Pattern of Inheritance: We will explore the inheritance pattern and gather information to contribute to our understanding of the genetic aspects of Ring Chromosome 20.
  3. Types of Seizures Experienced: We will delve into the specific types of seizures encountered, their frequency, and the impact they have on daily life.
  4. Trial of Medications: We are interested in learning about the various medications you or your child have tried, their effectiveness, and any side effects experienced.
  5. Education and Lifestyle: We will explore the educational challenges faced by individuals with Ring Chromosome 20 and discuss lifestyle adjustments that may have been necessary.
  6. Personal Impact: We would like to understand the wider impact of living with Ring Chromosome 20. beyond seizures on your personal identity and overall well-being.

In preparation for the interview you might want to refresh yourself on the following information (if you have received this from your medical team/letters and are willing to share), Don’t worry if you don’t have some or all of this information:

What will happen to the information collected?

We aim to publish a new research paper on living with r(20) based on the findings of this study. Ring20 will be ably supported in the data collection and analysis by colleagues at Newcastle University, UK. By sharing your insights, you will contribute to the comprehensive understanding of the challenges, impacts, and other aspects associated with a Ring Chromosome 20 diagnosis.

Consent and Data Privacy

To ensure accuracy and respect for your words, with your explicit consent, we will record the interview session and transcribe it verbatim. This process will help us ensure that no valuable information is overlooked and that responses are accurately captured.

Please note that participation in this study is completely voluntary, and you have the right to withdraw at any time without providing a reason. The information you provide will be treated with the utmost confidentiality and used exclusively for research purposes. Your privacy will be protected, and all data will be anonymized to ensure confidentiality and comply with ethical guidelines.

Want more information before you decide?

Contact your Ring20 Champion to ask any questions you may have.