The Specialised Healthcare Alliance (SHCA) has released an important report highlighting the obstacles people face in getting diagnosis of a rare condition, with recommendations included on how this can be improved. As a proud member of the SHCA, we wholeheartedly endorse this proactive call to action, aimed at accelerating the diagnosis of rare diseases, including TSC.
The SHCA is a collection of medical charities, 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.
Receiving a rare disease diagnosis can be a complex, long and frustrating challenge. This can lead to delays in starting to treat and manage the condition. To address these issues, the SHCA has identified five key areas to expedite the diagnosis of rare diseases. We stand with fellow SHCA members, to call upon policymakers to put these recommendations into action:
• Universal availability of testing for rare diseases. Including more genetic testing
• More support for people who are undiagnosed. Such as an increased number of specialist clinics for rare diseases
• Greater awareness among healthcare professionals. Implement additional training for doctors, nurses and other professionals to streamline the diagnosis of rare diseases
• Mental health at the heart of diagnosis. Provide mental health support for people not only after, but during their diagnosis journey
• A blueprint for the future of rare diseases. Develop consistent ways for diagnosing rare diseases, making it easier in the future
Our work with the SHCA is an important part of our campaigning for greater care in TSC, alongside the TSC Rare Disease Collaborative Network.
The comprehensive report can be accessed here.
