PURA-specificOutside UK
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.
Patient organisation · International (UK families supported) · checked 2 Nov 2026
PURA-specificOutside UK
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.
Research registry · International · checked 2 Nov 2026
PURA-specificOutside UK
The Foundation's directory of clinicians with PURA experience (genetics, neurology, epilepsy, paediatrics), mostly in the USA with some in Europe, including Southampton.
Clinician directory · International · checked 2 Nov 2026
NHS consultant clinical geneticist whose listed clinical interests include PURA syndrome. Co-author of early PURA research and a member of the PURA Syndrome Foundation's Scientific Advisory Board. NHS referral is usually via your child's doctor.
NHS clinician · Southampton, England · checked 2 Nov 2026
The research group (led by Professor Diana Baralle) behind the first description of PURA syndrome in 2014 and the UK-sponsored PURA Syndrome Longitudinal Natural History Study.
University research group · Southampton, England · checked 2 Nov 2026
PURA-specific
A free, plain-language family guide to PURA syndrome and 5q31.3 deletions from Unique, the UK rare chromosome and gene disorder charity.
Charity information guide · UK-wide · checked 2 Nov 2026
PURA-specificOutside UK
US non-profit focused on funding research towards a treatment for PURA syndrome, including gene therapy work with The Jackson Laboratory.
Patient organisation · International (USA) · checked 2 Nov 2026
PURA-specificOutside UK
Australian charity supporting PURA families in Australia and New Zealand; runs the international DEER epilepsy study.
Patient organisation · International (Australia & NZ) · checked 2 Nov 2026
PURA-specificOutside UK
German-language family association supporting affected families, family meetings and research.
Patient organisation · International (Germany) · checked 2 Nov 2026
PURA-specificOutside UK
Polish foundation supporting children and families with PURA syndrome; running a Polish natural history study.
Patient organisation · International (Poland) · checked 2 Nov 2026
Family-centred therapy centre in Zug, Switzerland, which states that more than ten children with PURA syndrome are part of its cohort. Presented at the 2026 PURA conference. Listed for information only – we have not assessed its methods or outcomes.
Private therapy centre · International (Switzerland) · checked 2 Nov 2026
Paediatric intensive therapy provider (Australia and USA) that publishes a PURA syndrome information page and took part in a therapy session at the 2021 PURA conference. Listed for information only.
Private therapy centre · International (Australia/USA) · checked 2 Nov 2026
The UK professional body for speech and language therapists, covering communication and swallowing needs. Explains what speech and language therapy is and how to access it.
Professional body · UK-wide · checked 2 Nov 2026
Not-for-profit association with a searchable directory of independent (private) speech and language therapists across the UK.
Professional association · UK-wide · checked 2 Nov 2026
Professional network of children's physiotherapists, with resources and useful links for parents and carers.
Professional network · UK-wide · checked 2 Nov 2026
Directory for finding an occupational therapist, with tips on choosing one suited to your needs.
Professional body · UK-wide · checked 2 Nov 2026
Check that a physiotherapist, occupational therapist, speech and language therapist or dietitian is registered with the Health and Care Professions Council before you book privately.
Regulator · UK-wide · checked 2 Nov 2026
UK charity offering riding and carriage-driving activities for disabled children and adults through local groups.
Charity · UK-wide · checked 2 Nov 2026
UK charity for augmentative and alternative communication (AAC), with clear explanations of aided and unaided AAC.
Charity · UK-wide · checked 2 Nov 2026
Charity specialising in AAC and assistive technology, with a free advice line (0800 080 3115, as listed on its website).
Charity · UK-wide · checked 2 Nov 2026
Supplier of AAC devices, communication apps and eye-gaze trackers controlled by eye gaze, touch or switch.
Supplier · UK-wide · checked 2 Nov 2026
UK assistive technology company behind the Grid AAC software and communication devices.
Supplier · UK-wide · checked 2 Nov 2026
UK supplier of AAC solutions focused on language development, established in 1991.
Supplier · UK-wide · checked 2 Nov 2026
Supplier of assistive technology for special needs – AAC devices, switches, sensory tools and switch-adapted toys.
Supplier · UK-wide · checked 2 Nov 2026
Makaton uses symbols, signs and speech together to support communication; the charity offers resources and training for families.
Charity · UK-wide · checked 2 Nov 2026
Postural support equipment for children – seating, standing, bathing and sleep – designed and manufactured in Northern Ireland.
Manufacturer · UK-wide (made in Northern Ireland) · checked 2 Nov 2026
Family-friendly adaptive equipment for children with additional needs, aimed at everyday participation.
Manufacturer · UK-wide · checked 2 Nov 2026
Manual and powered wheelchairs, wheelchair seating and mobility aids.
Manufacturer · UK-wide · checked 2 Nov 2026
UK supplier of mobility equipment including gait trainers, standers, adaptive trikes and the Frame Runner.
Supplier · UK-wide · checked 2 Nov 2026
Assistive devices and patient-handling equipment; R82 children's products are now part of Etac.
Manufacturer · UK-wide · checked 2 Nov 2026
Orthoses, wheelchairs and other mobility products.
Manufacturer · UK-wide · checked 2 Nov 2026
Designs and manufactures special needs trikes and disability bikes tailored to the rider.
Manufacturer · UK-wide · checked 2 Nov 2026
The UK charity for young wheelchair users, helping with equipment, skills and confidence.
Charity · UK-wide · checked 2 Nov 2026
Charity helping disabled children and their families with equipment, play and support from its nurse helpline.
Charity · UK-wide · checked 2 Nov 2026
Impartial advice and information about daily living and disability equipment.
Information service · UK-wide · checked 2 Nov 2026
Charity providing impartial information and advice about products, equipment and services for disabled people.
Charity · UK-wide · checked 2 Nov 2026
Search the BDA's freelance directory for a registered dietitian, including those who specialise in particular conditions.
Professional body · UK-wide · checked 2 Nov 2026
Patient-led charity offering friendship, support and advocacy for people on home artificial nutrition, including tube feeding.
Charity · UK-wide · checked 2 Nov 2026
Charity supporting families using ketogenic dietary therapies for epilepsy – recipes, information and events. These diets must only be used under the supervision of your child's medical team.
Charity · UK-wide · checked 2 Nov 2026
Speech and language therapists also assess and support eating, drinking and swallowing. The RCSLT explains the role and how to access therapy.
Professional body · UK-wide · checked 2 Nov 2026
Intensive physical therapy programme in Oxfordshire for babies and children with neurological and genetic conditions, combining mat work and 'Spider' suspension therapy. Footsteps Foundation can help families who cannot afford the programme.
Private therapy centre · South Warborough, Oxfordshire, England · checked 2 Nov 2026
Welsh centre (formerly Bobath Children's Therapy Centre Wales) offering physiotherapy, occupational therapy and speech and language therapy for children with cerebral palsy and allied neurological conditions.
Charity · Cardiff, Wales · checked 2 Nov 2026
Birmingham charity providing Conductive Education for children and adults with neurological motor disorders; self-referral accepted (per the NHS service directory).
Charity · Birmingham, England · checked 2 Nov 2026
Supports children, adults and families living with cerebral palsy and neurological movement conditions through Conductive Education.
Charity · Sheffield, England · checked 2 Nov 2026
Charity offering specialist therapy programmes designed by qualified therapists and taught to families to carry out at home.
Charity · UK-wide · checked 2 Nov 2026
UK-wide charity for children living with serious illness and the services that support them, including children's hospices.
Charity · UK-wide · checked 2 Nov 2026
Children's hospice charity in Dorset and Wiltshire offering care at home, in the community and at its hospices. It has published a PURA family's story describing its support.
Children's hospice · Dorset & Wiltshire, England · checked 2 Nov 2026
Children's hospice in Oxford.
Children's hospice · Oxford, England · checked 2 Nov 2026
Supports babies, children and young people with life-limiting conditions and their families.
Children's hospice · UK-wide · checked 2 Nov 2026
Helps families caring for seriously ill children. Check the website for the areas it covers.
Children's hospice · UK-wide · checked 2 Nov 2026
Hospice care for children with serious or life-limiting conditions. Check the website for the areas it covers.
Children's hospice · UK-wide · checked 2 Nov 2026
Hospice in Winchester providing care for seriously ill babies, children and young adults.
Children's hospice · Winchester, England · checked 2 Nov 2026
Children's hospice charity in Scotland.
Children's hospice · Scotland · checked 2 Nov 2026
Emotional and practical support for families who have a child with a life-threatening or terminal illness.
Charity · UK-wide · checked 2 Nov 2026
National charity helping seriously ill children and young people thrive at home.
Charity · UK-wide · checked 2 Nov 2026
Government guidance on how local authorities in England should provide short breaks for carers of disabled children – useful when asking your council what is available.
Government guidance · England · checked 2 Nov 2026
Charity supporting unpaid carers, working through local carer services.
Charity · UK-wide · checked 2 Nov 2026
Grants for families on a low income raising a disabled or seriously ill child, for things they need most.
Charity · UK-wide · checked 2 Nov 2026
May help with the extra costs of looking after a disabled child under 16 (England and Wales). Official eligibility and how to claim.
Government benefit · England & Wales · checked 2 Nov 2026
Scotland's replacement for child DLA: rates, who should apply and how to apply.
Government benefit · Scotland · checked 2 Nov 2026
Official DLA information for families in Northern Ireland.
Government benefit · Northern Ireland · checked 2 Nov 2026
Official information on Carer's Allowance for people caring for someone with substantial needs.
Government benefit · UK-wide · checked 2 Nov 2026
Helps carers protect their National Insurance record.
Government benefit · UK-wide · checked 2 Nov 2026
Overview of rights and support: childcare, car costs, home adaptations and education.
Government guidance · UK-wide · checked 2 Nov 2026
Information about the Blue Badge parking scheme and applying through your council.
Government scheme · UK-wide · checked 2 Nov 2026
Council grants towards home adaptations for a disabled person.
Government grant · England, Wales & Northern Ireland · checked 2 Nov 2026
Use an eligible mobility allowance to lease a car, wheelchair-accessible vehicle, scooter or powered wheelchair.
Scheme · UK-wide · checked 2 Nov 2026
Some disability equipment can be bought without VAT. Official rules.
Government guidance · UK-wide · checked 2 Nov 2026
Charity helping people access benefits and charitable grants, including a grants search and benefits calculator.
Charity · UK-wide · checked 2 Nov 2026
Practical and emotional support for disabled and neurodivergent children and their families, including equipment.
Charity · UK-wide · checked 2 Nov 2026
Funds and delivers programmes for children and young people across the UK, including equipment grants.
Charity · UK-wide · checked 2 Nov 2026
UK charity giving families information and advice on benefits, education, health and social care.
Charity · UK-wide · checked 2 Nov 2026
UK charity supporting families affected by rare chromosome and gene disorders; publishes the PURA family guide.
Charity · UK-wide · checked 2 Nov 2026
Genetic Alliance UK's support community for families of children with undiagnosed genetic conditions – often a family's first community before a PURA diagnosis.
Charity · UK-wide · checked 2 Nov 2026
An alliance of over 220 charities and support groups working to improve the lives of people with genetic conditions; runs Rare Disease UK.
Charity · UK-wide · checked 2 Nov 2026
The disability equality charity in England and Wales, with practical information and support.
Charity · England & Wales · checked 2 Nov 2026
Supports people with a learning disability and their families and carers.
Charity · UK-wide · checked 2 Nov 2026
National disability charity supporting people with complex disabilities and their families.
Charity · UK-wide · checked 2 Nov 2026
UK epilepsy charity offering information, support and training.
Charity · UK-wide · checked 2 Nov 2026
Information, guidance and resources for children and young people with epilepsy and their families.
Charity · UK-wide · checked 2 Nov 2026
UK epilepsy charity working through research, advocacy and care.
Charity · UK-wide · checked 2 Nov 2026
Charity for children with brain conditions and their families, including a sleep advice service.
Charity · UK-wide · checked 2 Nov 2026
Advice, a helpline and guides for unpaid carers, including Carer's Allowance and a benefits calculator.
Charity · UK-wide · checked 2 Nov 2026
The UK charity for brothers and sisters of disabled children and adults.
Charity · UK-wide · checked 2 Nov 2026
Independent, legally based advice on special educational needs and disabilities, including EHC plans and SEND Tribunal appeals (England).
Charity · England · checked 2 Nov 2026
Official overview of special educational needs support at school and how to request an education, health and care (EHC) plan in England.
Government guidance · England · checked 2 Nov 2026
Parent-led site with news, resources and opinion about SEND, EHCPs and rare disease.
Parent-led publication · UK-wide · checked 2 Nov 2026
The national charity dedicated to improving children's bowel and bladder health. It publishes clinically approved advice sheets on constipation, soiling, stool withholding, bladder problems and potty training, and runs a helpline for families.
Charity · UK-wide · checked 2 Nov 2026
The national charity for the digestive system. It publishes expert-reviewed information on digestive conditions such as reflux and constipation, funds research and runs a helpline.
Charity · UK-wide · checked 2 Nov 2026
Scotland's replacement for Carer's Allowance, paid by Social Security Scotland. Eligible carers are awarded Carer Support Payment, the Scottish Carer Supplement and, where it applies, the Carer Additional Person Payment together.
Government benefit · Scotland · checked 2 Nov 2026
Carer's Allowance for people in Northern Ireland who care for someone for at least 35 hours a week, run by the Department for Communities.
Government benefit · Northern Ireland · checked 2 Nov 2026