Overview
Cockayne Syndrome (CS), Trichothiodystrophy (TTD) and Bloom Syndrome (BSyn)
Cockayne Syndrome (CS), Trichothiodystrophy (TTD) and Bloom Syndrome (BSyn) are rare genetic disorders affecting a small number of people.
Our service is the first of its kind and is the only designated national service for CS/TTD.
We share the BSyn Network with Manchester Children's Hospital. This allows families to receive joint specialist expertise and access care closer to home.
We aim to:
- provide high quality care to people with CS/TTD/BSyn
- manage all patients in the UK who wish to attend, together with their local consultants and care teams
We work with:
- patients' local medical and nursing teams
- specialist DNA repair scientists
- the patient support group, 'Amy and Friends'
Evelina Children's Hospital and King's College Hospital also provide specialist expertise.
Our dedicated nurse practitioners provide outreach care and support:
- visiting patients in their homes
- attending patient specific meetings
- following up via regular telephone calls and emails
- developing bespoke condition specific care plans and clinical passports
Our team is made up of:
- neuro development paediatricians
- clinical geneticists
- paediatric endocrinologists
- clinical psychologists
- occupational therapists
- dietitians
- adult neurologists
- dentists (paediatric and adult)
- clinical nurse specialists (paediatrics and transition)
Our consultants
Research and clinical trials
Research is vital to improving the care that you receive when you are unwell. You can help improve healthcare by taking part in research studies at our Trust. During your appointment, ask your healthcare professional about research. They will be happy to tell you about research studies you could be eligible to join.
Last updated: 25 May 2023
