More research to improve quality of life urgently needed

Research into DEE-SWAS has made important progress in genetics, brain science and treatment. However, medical research takes time, and families, including those like mine, where no genetic cause has been identified, do not have time to wait for precision therapies.

Alongside medical advances, there is a need for practical ways to support our child to stay actively involved in friendships, weekend activities, family celebrations and outings, and school in ways that are meaningful to them and help them feel they still belong.

What my family needs is not additional therapy or parent training programs that place more pressure on our already overstretched lives, but practical strategies that can be built into the things our child (and we) were already doing before DEE-SWAS.

These strategies need to be flexible and responsive day-to-day, even hour-to-hour, to fluctuating cognition, fatigue, sensory overwhelm, and the uncertainty of a long and complex diagnostic journey. Whether support is agile matters just as much as what is delivered, for meaningful participation.

In many ways, this experience can resemble conditions such as acquired brain injury or dementia, where skills change over time, rather than conditions present from early development. Our experience has been that when this kind of support is there, it brings our child joy, confidence, a sense of capability, pride and beautiful friendships.

This section brings together research related to these areas. While most of this isn’t directly practical, it may still offer useful insights for families and the people around them. If you know of research to include, or if anything here could be explained more clearly, please email melanie@voicesofdeeswas.org