Appointments
Cockayne Syndrome (CS), Trichothiodystrophy (TTD) and Bloom Syndrome (BSyn)
Most appointments are face-to-face.
How to get an appointment
We accept referrals from:
- the clinical genetics service
- GPs
- paediatricians
- other health professionals
Changing or cancelling your appointment
Phone: 020 7188 7188 extension 58030 or extension 55070
Email: [email protected]
Before your appointment
Please bring:
- your most recent clinical letters, or available test results
- a list of any current medicines you're taking
- your child's health record (red book) if the appointment is for your child
During your appointment
Clinics are held at the Rare Disease Centre at St Thomas' Hospital.
Clinics run from 9am to 5pm.
You'll be assessed by specialists from a variety of services during the day including:
- genetics
- dental
- dermatology
- neurology
- dietetics
- psychology
- occupational therapy
- Professor Alan Lehmann
- clinical nurse specialists (CNS)
For Bloom Syndrome clinics, you'll also see specialists from:
- immunology
- endocrinology
- haematology
- radiology
We'll give you a timetable of who you'll be seeing during the day.
You may also have tests such as:
- blood tests
- X-ray
- skin biopsies
Lunch will be provided via a voucher for the canteen.
If you're waiting for a diagnosis you may be seen at a triage appointment. These can be by telephone, video or face-to-face. You'll see the services' national lead and nurse practitioner who will carry out an in depth medical assessment.
We're a teaching hospital and sometimes visiting doctors and other health professionals may sit in on your appointment. If you do not feel comfortable with this, please let us know.
After your appointment
We'll send a letter to you and your local health team summarising your visit and advising of any management plan that has been agreed.
Last updated: 26 May 2023