The TSA is a proud member of the Specialised Healthcare Alliance (SHCA), who last year released an important report evaluating the obstacles people face in getting diagnosis of a rare condition. One year on, the SHCA has released a troubling follow-up report showing that not enough progress has been made

The SHCA is a collection of medical charities, including the TSA, social groups and industry organisations that work together on behalf of people with rare diseases, such as TSC. The SHCA pushes for improved and more access to specialised care, in order to improve physical, mental and emotional wellbeing of people with rare diseases.

The original report identified five key areas to expedite the diagnosis of rare diseases and called upon policymakers to put these recommendations into action. The latest report evaluated the progress made and gave each priority a colour-coded grade:

  • Red: Progress has fallen short and requires significant policy intervention
  • Amber: Some progress has been made but this has been slower than expected
  • Green: Good progress has been made as planned

The different priority points from the original SHCA were graded as followed for the progress made:

  • Mental health at the heart of diagnosis. Provide mental health support for people not only after, but during their diagnosis journey: Red
  • Universal availability of testing for rare diseases. Including more genetic testing: Amber
  • Greater awareness among healthcare professionals. Implement additional training for doctors, nurses and other professionals to streamline the diagnosis of rare diseases: Amber
  • A blueprint for the future of rare diseases. Develop consistent ways for diagnosing rare diseases, making it easier in the future: Amber
  • More support for people who are undiagnosed. Such as an increased number of specialist clinics for rare diseases: Green

Frustratingly, just one of the five priorities was given a progress rating of green highlighting how much more needs to be done to help people navigate the diagnostic labyrinth. As a proud member of the SHCA, we’ll continue to work with our partners at the SHCA to push policymakers to prioritise reducing diagnostic delays for rare diseases. The current progress that’s been made goes nowhere near to the extent that the TSC community expects, and we’ll be pushing policymakers to ensure that this changes.

The comprehensive report can be accessed here.