It even has a name. It's called the 'Diagnostic Odyssey'?
The lengthy and frustrating journey from first noticing that something isn't right and going to the doctor to actually receiving a diagnosis.
It's a process that can take many years, with seemingly endless tests along the way.
This is the list of healthcare professionals seen by just four of our families with our rare disease caused by a gene called CACNA1C. Receiving an accurate diagnosis for a rare condition is crucial for appropriate management and support. In the UK, patients typically wait 4-6 years to receive a diagnosis. One of these families waited 10 years.
It doesn't need to be like this. Rare Diseases are collectively common. There are over 300 million people in the world currently living with a rare disease (Source: Rarediseaseday.org). It is estimated that 1 in 17 will be affected by a rare disease in their lifetime (Source: Rare Diseases UK).
Dare to think rare.
TSA is a parent-led registered charity for an ultra rare genetic disease which presents as a spectrum of conditions characterised by a range of cardiovascular and/or neurologic symptoms.
Our mission focuses on improving diagnosis rates, treatment, and support for individuals with CACNA1C-related disorders which includes Timothy Syndrome and LongQT8, while also aiding their families and caregivers. We focus on five core areas: raising awareness and understanding, improving diagnosis and care, supporting our community, providing information and advice, and driving research and clinical development. By prioritizing these vital areas, we aim to make a lasting impact.
We align with the following UN Sustainable Development Goals: