Between 24th November and 4th December 2020, we asked parents for their feedback on the CoIN Study survey, including how easy it was to use and follow, and whether the questions successfully captured their experiences. This feedback was then used to develop the CoIN Study final survey distributed in April 2021. Read the infographic below to find out more...

Since joining Dr Tye’s research team in September 2020, I have had to the opportunity to attend multiple online seminars and conferences as a research assistant. 

Between 17th and 19th July 2021, the UK-based charity the ‘Tuberous Sclerosis Association’ (TSA) hosted the ‘International Tuberous Sclerosis Complex Research Conference 2021: A Vision for the Future’. This conference brings together a range of individuals, including patients and their families, academics, healthcare professionals, policy makers and industry professionals, with the aim to share and discuss advances in Tuberous Sclerosis Complex (TSC) research from around the globe (for more information about TSC please see the ‘What is TSC?’ section at the bottom of this post). 

The conference covered multiple research themes, including ‘Social Research’. For this theme I submitted an abstract (a summary of research and research findings) on the CoIN Study for a poster presentation. I was excited to hear from the conference committee that not only had my poster been selected to be presented, but I was also awarded an Early Carer Research (ECR) award. As part of the award, I was asked to give an 8-minute talk and my attendance was sponsored by Noema Pharma. I felt extremely honoured to have received this award to attend my second (ever!) conference. However, I was nervous to present to an audience of hundreds of international experts, something I had never done before. I also felt a great responsibility to the families who had taken part in the CoIN Study to retell their experiences accurately and sensitively through our data.

Jess presenting preliminary findings from the CoIN Study at the 'International Tuberous Sclerosis Complex Research Conference 2021: A Vision for the Future’.

My presentation covered preliminary findings exploring the impact of the Covid-19 pandemic on parental mental health and child behaviour for families of children with rare disorders and specifically those with TSC. After the presentation, I received a few questions: 

1. ‘How have families been involved in the CoIN Study?’; and 

2. ‘What are the next steps for the CoIN study?’. 

Family Involvement

It is extremely important for us to include families in the CoIN Study to ensure we are conducting research that is easy to take part in and relevant to families’ experiences. So far, we have conducted a parent/carer feedback survey and parent/carer interviews. Responses collected in both activities were used to inform questions the final survey (circulated in April 2021) and included questions on vaccinations and impact on siblings. 

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Next Steps

The next steps for the CoIN study include: (1) examining the specific impact of the pandemic on wellbeing in families of children with rare disorders compared to families of children without rare disorders; (2) exploring changes in wellbeing overtime; and (3) determining predictors of changes in wellbeing. These analyses and their findings will be completed and shared over the coming months. I look forward to seeing the results of these analyses, which could not be achieved without dedicated participation of families in the CoIN Study community. We are extremely grateful for their participation and support! 

The opportunity to give a presentation on the CoIN Study to an international audience of experts was incredible and one I hope to do again as I continue my research journey. 

What is TSC? 

TSC is a rare genetic disorder caused mutations on the TSC1 or TSC2 gene and is characterised by the growth of hamartomas. The condition is also associated with increased likelihood of neuropsychiatric conditions (e.g., Autism Spectrum Disorder, Attention Deficit Hyperactivity Disorder) which are collectively known as tuberous sclerosis complex-associated neuropsychiatric disorders, or TAND for short. For more information about TSC visit the TSA website: https://tuberous-sclerosis.org/information-and-support/what-is-tsc/

Much of the news and reporting surrounding Covid-19 focuses on the negative impact of the pandemic on our daily lives, as well as our mental and physical wellbeing. To mark Positive Media Day 2021 (22nd June), we explored whether there had been any positive changes for families' of children with rare neurogenetic disorders during the UK's first lockdown (defined as between 15th May 2020 and 31st July 2020, after the launch of the CoIN study and before the termination of the UK's shielding programme [1st August 2020]). See the infographic below to find out more...

Listen to Principal Investigator Dr. Charlotte Tye and Honorary Research Assistant Dr. Abigail Runicles discuss the rationale behind, and setting up of the CoIN Study.

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Our main aim has been to capture the experiences of families of children with rare neurogenetic disorders during the coronavirus pandemic. These families have experienced drastic changes to healthcare access and support, especially at the beginning of the first lockdown.

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I started my placement year in early September around the time when England was heading back into lockdown and there was a lot of uncertainty. However, when I first started working on the CoIN study I could not have felt more (virtually) welcomed by the team. 

Initially, I was assigned the Honorary Research Assistant role for the Early Development in Tuberous Sclerosis (EDiTS) Study, another study conducted by Dr Charlotte Tye at KCL. As the weeks went on, I became more involved with the CoIN Study, my main role being to distribute the online monthly follow-up surveys and reminder emails to CoIN participants. More recently, I have been involved in forming and distributing the CoIN Study final survey to parents. I have found it very eye-opening viewing participants' responses over the past 8 months. To see how families of children with rare neurogenetic disorders have adapted to life during a pandemic has been extremely inspiring.

My other roles on the CoIN Study include managing the social media accounts and keeping the website up to date. This has been a really great experience because it has taught me how to use social media as a platform to enhance recruitment and visibility of the study, which are key skills I can take with me on my career journey. 

Over the past 3 months, I have had the opportunity to observe qualitative interviews conducted by research assistant, Jess. Another one of my roles has been to transcribe these interviews in preparation for analysis. I look forward to seeing what this analysis unveils about the more in-depth experiences of parents caring for a child with a rare neurogenetic disorder during Covid-19. I am very grateful for the wide experience I have gained by being involved in not only the collection of quantitative data from the surveys, but also qualitative data from the interviews. 

One of the great things about being a placement student on CoIN is that it has all been conducted online and therefore my experience of being involved with the study has not been too greatly affected by Covid-19. However, I am very much looking forward to finally meeting the team I have been working with for the past 8 months in person!

The highlight of working on CoIN so far has been interacting with participants directly during the qualitative interviews and hearing their experiences first-hand. Reading parents' feedback from the survey and seeing what topics matter to them the most has also been very insightful. Being involved in research that informs charities of the tools they can implement to enhance the access to support to families of children of rare disorders is really special, and I am so grateful to be working on such a wonderful study.