Timothy Syndrome Alliance

Full website coming soon!

Our mission:

To support Timothy Syndrome & all other deleterious CACNA1C gene change families through education, shared experience & research.

Creating awareness on all aspects of Timothy Syndrome among the general public, medical & research communities.

What is Timothy Syndrome

Timothy Syndrome is a multisystem disorder characterised by an abnormally long repolarisation in the heart that predisposes patients to cardiac arrhythmias and sudden cardiac death, a weakened immune system, developmental delays, episodes of low levels of sugar in the blood (hypoglycemia), seizures, an abnormally low body temperature (hypothermia) and more.

How do I connect with other families of children with Timothy Syndrome and all other deleterious CACNA1C gene changes?

Being diagnosed with a rare disease can be lonely and isolating due to the lack of awareness and understanding with rare diseases. With a rare disease patients are few and located all over the world. Get in touch and come and join our TS family. It’s a safe space where people can talk without feeling judged, share experiences, discuss symptoms and support one another.

Will medical professionals find this website useful?

Yes, this website will include information specifically written for medical professionals.

This is the present diagnosis of Timothy Syndrome:

‘An identified CACNA1C mutational change of Gly406Arg in either exon 8A or exon 8 is clearly understood to be pathogenic and results in a diagnosis of TS.

An identified CACNA1C mutational change of other amino acids other than G406, is understood to be pathogenic, and should also result in a diagnosis of TS since children bearing these mutations have multi-system health, structural or developmental concerns.

An identified CACNA1C mutational change which associates singularly with an abnormal cardiac function should NOT be considered TS, but be named in association with the disease in which it most clearly or closely associates. The diagnosis of LQT8 would be appropriate when only a prolonged QT interval is identified. ‘  

Katherine W Timothy

Who will this site be for?

For families

For professionals

For supporters

How can I support Timothy Syndrome Alliance and help raise awareness?

You can follow us on Twitter @timothysyndrome, you can volunteer to help us fundraise or you can make a donation. Your support is very much appreciated!

If you are a family affected by Timothy Syndrome or a Medical Professional caring for a child with this condition and would like to find out more, please get in touch. We’d love to hear from you.

Copyright © 2019 Timothy Syndrome Alliance (TSA) – All Rights Reserved.

Registered Charity Number 1185523