Your appointment at the rare diseases centre

Contacts

• Tel: 020 7188 7188 ext 55070

Appointment information

• What should they bring to the appointment?

  Bardet-Biedl Syndrome (BBS) appointments
  

  • a list of any current medications you are taking. Please include prescription medication, medicines you have bought yourself and any alternative medicines, eg herbal remedies.
  • if you have been treated at another hospital for the same (or any related) condition, please bring any copies of correspondence or investigations with you.

  Any other information that you feel may be relevant, such as sight prescription, glasses and occupational therapy records.

  Epidermolysis bullosa (EB) appointments
  

  • a list of any current medications you are taking or creams you are using. Please include prescription medication, medicines you have bought yourself and any alternative medicines, e.g. herbal remedies.
  • if you have been treated at another hospital for the same (or any related) condition, please bring any copies of correspondence or investigations with you.

  Xeroderma pigmentosum (XP) appointments
  

  • if this is your first appointment, photographs from an early age as these can help us to assess your skin and how it has changed over time
  • glasses (if you normally wear these)
  • a list of any current medication you are taking, including prescription medication, medicines you have bought yourself and any alternative medicines, eg herbal remedies.
  • a list of any questions you may have.

  If the appointment is for your child, please also bring:

  • your child's health record (red book)
  • your child's school report or records, as these can help us to assess your child
  • details from local clinic/hospital/community appointments, including developmental clinic and hearing tests if available.

• What can patients expect at the appointment?

  Bardet-Biedl syndrome (BBS) clinics
  

  The BBS clinics are held monthly, during these clinics, patients will be reviewed by a wide range of health care professionals, who form part of the BBS ‘Multi-disciplinary Team’.  The health care professionals who review patients will be determined on an individual needs basis.  At the appointment patients can expect to be reviewed by relevant clinical specialists who will help to develop an individual plan of care or patients. 

  Throughout their visit, patients will be encouraged to ask questions.

  Epidermolysis bullosa (EB) clinics
  

  To be reviewed by a wide range of health care professionals, who form part of the EB ‘Multi-disciplinary Team’. A full medical history and skin assessment will be undertaken.  Patients may be asked to undress so that all of their skin (and not just the area(s) affected) can be examined.  During their appointment patients may need to have:

  • a blood test

  • skin sampling (taking a swab or scraping to look for skin infections)

  • skin biopsy (taking a small piece of skin under local anaesthetic).

  St.Thomas’ is a teaching hospital, therefore students supervised by qualified staff might be involved in patient care. It is valuable training for students and does not affect the quality of patient treatment in any way.  Patient wishes will always be respected and patients will be encouraged to inform the team if they do not want them to be present or involved. 

  Xeroderma pigmentosum (XP) clinics
  

  The XP service hold separate, monthly clinics for children and adults, and occasional clinics for young adults.  During these clinics, patients will be reviewed by a wide range of health care professionals, who form part of the XP ‘Multi-disciplinary Team’. The team consists of:

  • consultant dermatologist
  • consultant neurologist
  • consultant ophthalmologist
  • consultant geneticist
  • consultant dermatology surgeon
  • clinical nurse specialist
  • clinical psychologist
  • medical photography.

  All of the health professionals listed above see patients on the same day within the Rare Diseases Centre. The clinics are held on Fridays and usually last all day (9am–5pm), depending on which health professionals patients need to see. Appointments are held in the morning and last approximately 45 minutes each. 

  The afternoon is set aside for any further investigations that patients may need, such as skin biopsies, minor skin surgery, blood tests and skin photography. The XP support group attend clinics to offer support and additional advice to patients.

• Information for after their appointment

  Bardet-Biedl syndrome (BBS) patients

  Prior to finishing their clinic appointment, patients will be advised by the clinical team of what follow-up care they will receive. Patients will also be sent a letter summarising their visit. For further advice and support, patients can visit the Bardet-Biedl Syndrome UK support group website.

  Epidermolysis bullosa (EB) patients

  Prior to finishing their clinic appointment, patients will be advised by the clinical team of what follow-up care they will receive. Patients will also be sent a letter summarising their visit. If patients require any further information or support they can visit the debra website or changing faces website.

  Xeroderma pigmentosum (XP) patients

  Prior to finishing their clinic appointment, patients will be advised by the clinical team of what follow-up care they will receive. Patients will also be sent a letter summarising their visit. For further advice and support, patients can visit the XP support group website.