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:

For Bloom Syndrome clinics, you'll also see specialists from:

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

Do you have any comments or concerns about your care?

Contact our Patient Advice and Liaison Service (PALS)

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