You are not on your own. Families around the world have walked this path, and many are happy to help.
The PURA Syndrome Foundation connects families, runs the annual conference and the free PURA Patient Registry. Joining the registry is one of the most useful things a family can do for research.
UK charities such as Contact, SWAN UK and Unique support families with rare and complex conditions. They offer helplines, local groups and family events.
The global family foundation for PURA syndrome: family support, ambassadors, sibling and grandparent outreach, the annual PURA conference and the global patient registry. Registered as a US 501(c)(3) and active with UK families.
Free global registry run by the PURA Syndrome Foundation with COMBINEDBrain and Matrix. Families enter information once and it helps build the natural history of PURA syndrome and prepare for future trials. Available in eight languages.
US non-profit focused on funding research towards a treatment for PURA syndrome, including gene therapy work with The Jackson Laboratory.
UK charity giving families information and advice on benefits, education, health and social care.
Genetic Alliance UK's support community for families of children with undiagnosed genetic conditions – often a family's first community before a PURA diagnosis.
UK charity supporting families affected by rare chromosome and gene disorders; publishes the PURA family guide.
The UK charity for brothers and sisters of disabled children and adults.
Advice, a helpline and guides for unpaid carers, including Carer's Allowance and a benefits calculator.