Case Study 4: SATB2 Connect

Partnering with university researchers to fill gaps in knowledge and resources about SATB2 Associated Syndrome

SATB2 Associated Syndrome is a rare neurodevelopmental condition caused by changes in the SATB2 gene.21-23 Individuals with SATB2 Associated Syndrome have intellectual disability, delays in developing motor skills such as sitting and walking, speech difficulties or absent speech, behavioural challenges, low muscle tone, and distinct facial features. Many organ systems may be involved, including the heart, teeth, bones and spine, and gastrointestinal system.

Our advocacy goal

SATB2 Connect is a not-for-profit organisation that supports families and their loved ones diagnosed with SATB2 Associated Syndrome in Australia, New Zealand, and neighbouring countries in the Asia Pacific region.24 Our goal was to develop a paper outlining the gaps and unmet needs of individuals and families affected by SATB2 Associated Syndrome. The aim of the paper was to inform a research plan for our community, with our community.

Our first step was to seek advice and support from researchers at four universities and build a network, which we formalised as our Research Advisory Committee.

The researchers were interested in working with patient-led organisations to improve the quality of life of people diagnosed with SATB2 Associated Syndrome and their families. They offered to co-supervise students with our organisation to co-design and conduct much needed research together – our families are the experts and the co-designers of the research.

Through surveys and one-on-one interviews, the students have been collating data about gaps and challenges in health care, education, support and National Disability Insurance Scheme (NDIS) funding, therapy, accommodation, and supportive workplaces.

Establishing early partnerships with four different universities led to the development of a Research Advisory Committee, which informed the research and priorities.

Working closely with researchers and people with lived experience helped focus the research and ensure it was relevant to the SATB2 community.

Defining the project through collaboration and co-design

We came to our partner universities with our community’s needs and experiences and then together, identified, and prioritised the areas of research we needed to focus our efforts on. Our families have been respected as ‘lived experience’ experts and are co-designers of the research.

Throughout the project, we reconvened and discussed who the research audience would be, and what the content and target journals should be for the research, being flexible and yet persisting in reaching our goals.

The project required a considerable time commitment from the SATB2 Connect team, with patience and persistence required to see the project to completion.

Forming partnerships through storytelling and collective advocacy

We have achieved the most success by sharing our family experiences. We keep the accounts simple and related to the target audience’s individual interests. It is helpful to learn about the individuals and organisations we are pitching our ideas to before meeting with them.

We were most successful when we approached universities as an established organisation with a clear message summarising our mission and goals. We had less success when approaching universities individually.

Approach 2: Communication and storytelling

A clear message summarising missions and goals was critical to gain support and buy-in from potential research partners.

The power of connection and being part of a wider community

We made use of our connections with national and international patient organisations, medical, health, and research networks. We understand our community is small and that’s why it’s important to be a part of the wider rare disease community and to advocate broadly for chronic and complex health conditions.

Networking with other like-minded organisations and those who share many of the common challenges of SATB2 Associated Syndrome helped with identifying the right decision makers and best advocacy channels. Events and conferences run by peak bodies such as RVA and other organisations gave us more opportunities to learn, share and network.

Our international network helped us grow our understanding of what our community needs and how we can work together and make the most of our resources and time.

Investing in the future

We believe involving university students in our work builds their capacity and expertise, and hopefully ignites a passion in them to continue to be involved in, or even lead, future rare disease research.

Some of the challenges faced by small organisations like ours

  • Knowing where to start, how to start and when to start
  • Finding research opportunities at no cost to the rare disease organisation
  • Gaining knowledge and an understanding of the best language to communicate with academia, the rare disease sector, and our community
  • Knowing how to best engage our community
  • Keeping students participating in group research engaged and interested
  • Having enough time available to achieve all our goals
  • Knowing how to keep the research scope reasonable to avoid researcher burnout.

Key messages

This case study highlights the value of:

  • Networking and collaboration to build a Research Advisory Committee
  • Communication and storytelling to engage collaborators and help them understand the needs and priorities of individuals and families
  • Co-designing projects with the rare disease and scientific community to take advantage of lived and scientific expertise
  • Patience, persistence, and flexibility in re-defining goals and planning new approaches when initial strategies (for example, meeting potential partners as individuals) were not successful

“Although the tasks ahead are challenging for patient organisation leaders, we are often reminded that we are the driving force for change; we are the parents, caregivers and families of those individuals living with chronically complex medical challenges – this is why our passion is further ignited for positive outcomes.”

To Section 3 >>