A new National Specialist Service is available on the NHS bringing medical specialists and families together with Cockayne Syndrome and Trichothiodystrophy (CS/TTD)
Dr Shehla Mohammad MD, FRCP Clinical Lead for National CS/TTD has worked with Amy and Friends in conjunction with Guy’s and Thomas’ Hospital and NHS England to establish a multidisciplinary clinic for children and young people with CS/TTD.
The new centrally funded National Specialist Service for patients who have the life-limiting genetic disorders known as Cockayne Syndrome and Trichothiodystrophy (CS/TTD), started in Feb 2019. This service is closely linked and allied with the already well established and highly regarded Xeroderma Pigmentosum Service (XP) and consolidates the provision of a comprehensive DNA Repair Service nationally.
The objective of the service is to provide a high quality, multidisciplinary patient focused service to those with DNA repair disorders. It aims to jointly manage all patients in the UK who wish to attend in partnership with their local consultants and care teams facilitated by a nurse-led outreach network.
Monthly clinics are held at the recently opened Rare Disease Centre at St Thomas’. Patients can be seen and assessed by all relevant specialists on the day to develop a bespoke management care plan which is shared with their local teams.
This unique clinical service will establish a forum for translational research opportunities that would not otherwise exist and provide a vital mechanism for seamless transitional care for patients moving from paediatric into adult services as appropriate.
Rare Revolution Editor