Our mission
Our mission is to improve the diagnosis, treatment and care of individuals with CACNA1C-related disorders, including Timothy Syndrome and LongQT8, and to support the families and carers of those diagnosed.
We support families and individuals by sharing our experiences through our online community, at our Family Day and our conferences.
Our team
We are a charity run entirely by families and volunteers.
We work with scientists, researchers and medical professionals who volunteer their services.
Trustees
Scientific Advisory Board
Wellcome Trust GW4-CAT Clinical Research Fellow, NMHII, Cardiff University
Clinical Scholar, Neurology & Neurological Sciences. Postdoctoral Scholar, Neurology & Neurological Sciences
Stanford Medicine
Research Associate, NMHII, Cardiff University
Postdoctoral Researcher, University of Oxford
Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome
Group Leader of Evolutionary Genomics, Earlham Institute
Annual report
Download our latest annual report.
Our history
1999
After losing their son, Connor, his parents started a nonprofit organisation called HOPE, for children and young adults with cardiac arrhythmias. At this time, the gene that caused what we now know as Timothy Syndrome had not yet been discovered.
Once the gene was found in 2004, our focus turned specifically to TS. With the help of Katherine Timothy, we developed a website and informational brochures that were distributed to medical professionals within multiple disciplines. We also exhibited at numerous cardiology and pediatric conferences to reach out to and educate the medical community.
There were few known cases of Timothy Syndrome throughout the world at this point, so our goal was to make clinicians aware of TS and its characteristics in hopes of improving diagnosis and promoting research.
Our work led to Timothy Syndrome being registered as a known rare disease with the National Organization of Rare Diseases.
2015
The Timothy Syndrome Alliance (TSA) was first set up as a support group in the USA in 2015.
Sadly, just a few months after the group was formed, the 5-year-old son of one of the co-founders, Lee, lost his battle with Timothy Syndrome. Read the full story about Lee and the formation of TSA.
2016
It was around this time that our current Chair, Sophie Muir, found out that her son, Calvin, had Timothy Syndrome – but she didn’t find the Facebook support group until early 2017.
Keen to find out more, Sophie and Calvin travelled to the USA in 2018 to attend the SADS (Sudden Arrhythmia Death Syndromes) Foundation Conference, where they met 5 other families who had been affected by the same condition.
Through sharing information and experiences, the TS community feels like a tight-knit family providing both advice and comfort to its members from all over the world.
2019
In 2019, we became a registered charity in the UK.
Today
We continue to work towards achieving our vision of a world without Timothy Syndrome.
Make a donation
Children with Timothy Syndrome desperately need early diagnosis, treatment and care.
Your contribution will help:
- raise awareness to drive research and clinical development
- enhance scientific understanding
- reduce the isolation faced by families
With your help, treatment and a cure for future generations is closer to being found.
See other ways that you can support us.