“Finding you was like breathing again.”

A parent told us that about TSA.

Imagine being told that your child has a genetic condition so rare that your doctors have never encountered it. There is no local support group, very little information, and no other family you can turn to for advice. For many families affected by CACNA1C-Related Disorders (CRDs), this is their reality. Timothy Syndrome Alliance (TSA) is the only UK charity dedicated to supporting people affected by CRDs, including Timothy Syndrome and Long QT8, and their families and carers. We provide trusted information, peer support, advocacy, counselling, community connection, and opportunities to engage with research that may improve future understanding and care.

Most families go online the same day. One parent told us that when they first searched for CACNA1C, the results suggested their child’s condition could be life-limiting. “I spent the day crying.” Then they found us. “It gave us practical support, hope and a place where our family and child are seen, loved and accepted.”

Here is what your support makes possible.

No family has to face the diagnosis alone. They can join our private support group, where someone who understands welcomes every new family. They can talk one to one with people who have lived it, join webinars on diagnosis and uncertainty, and have specialist counselling through our partner Rareminds. We help them prepare for medical appointments, make sense of complex clinical information and speak up for their child.

Doctors who have never seen this condition get something to work from. In July 2026 the first international consensus statement on CRDs, which we co-produced, was published in the European Journal of Human Genetics. A clinician meeting one of our families now has guidance to follow.

Research gets closer to treatment. Families join our Registry, which gathers what is known about CRDs in one place so patterns can be found that no single hospital could see. In July 2026 we launched our own biobank, held with Cardiff University Biobank. It started from zero, and every eligible person at our conference gave a blood sample. A blood sample on its own is just a vial. Linked to a family’s Registry record, it tells researchers how CACNA1C behaves in the body. We have also funded a study of speech and language in CACNA1C, led by researchers at Murdoch Children’s Research Institute in Australia.

The difference shows. Before our 2026 conference, more than half of the family members who answered our survey said they felt completely alone. Afterwards, every one who answered said they felt less alone, and 96% felt more hope for the future.

The need is growing. As genetic testing spreads, more children and adults are diagnosed every year, and new families contact us every other day. In 2025 we answered over 160 enquiries through our website alone, and far more through our support group and direct contact. We are run by parents and volunteers. In our 2025 financial year, 98.3% of our expenditure went directly to charitable activities. Grant funding is largely restricted, so the Registry’s running costs, for example, mostly have to be raised from supporters.

Your gift keeps the support group open, the Registry running and the biobank growing. Next year we plan to add our first part-time Genetic Counsellor, someone families and healthcare professionals can contact for high quality support and genetic counselling expertise.

Please give what you can. If you cannot, please share this page. A share can reach a family who is searching Google right now and finding the worst possible answers.

You can watch our award-winning short films on our website to see what this is like for families.

Thank you for being here.