To celebrate Rare Disease Day, we spoke to the team at the Rare Diseases Centre at St Thomas’ Hospital. One of the rare diseases the team is focused on is Bardet-Biedl Syndrome (BBS) which is delivered as a national Highly Specialist Service from the Rare Diseases Centre.

BBS is a rare, inherited disorder with an estimated prevalence rate of one in 100,000 in the UK. BBS can be highly variable and can cause a number of associated health issues including retinal degeneration (leading to impaired vision and blindness), obesity, diabetes, reduced kidney function, polydactyly (extra digits of the hands or feet) and learning disabilities.

Kathryn Sparks, Clinical Nurse Specialist, and Dr Shehla Mohammed, Clinical Lead for the BBS service at Guy’s and St Thomas’, told us how the team have been supporting patients throughout the COVID-19 pandemic. This complex mutidisciplinary service now in its eleventh year has continued to deliver all scheduled activity, including urgent assessments by revising clinical pathways whilst continuing with planned research activities.

At the start of the first wave of the pandemic, our face-to-face multidisciplinary clinics were paused but we immediately moved to a virtual platform to continue monitoring our patients. The ongoing BBS telemedicine service which has been running for a few years enabled the transition to be seamless and efficient. In line with Trust guidance, we had to pause a Phase III intervention trial for weight management in BBS patients to reduce the number of patients visiting clinic to ensure that our patients were safe. Utilising the space in the Rare Diseases Centre allowed us to maintain social distancing and patient safety, and over time we were able to increase the numbers of patients attending face-to-face clinics.

Many of our patients have learning disabilities and high levels of anxiety, meaning they often need support in everyday life. Nearly half of the patients under the BBS team are categorised as clinically extremely vulnerable and have been shielding throughout the pandemic. Therefore, it was important that the Rare Diseases Centre offered ample and calm space for patients to be seen safely throughout the lockdown periods. We are extremely grateful to Sister Marissa Cruz and her team for their flexibility, guidance and singular support to ensure the continuity of the service.

Patients who attended the clinics/trial were offered a COVID-19 vaccine to coincide with their hospital visit once it was made available to clinically extremely vulnerable patients.

We were also successful in obtaining a generous grant from NHS England which has enabled us to purchase adapted home monitoring equipment including blood testing kits to assist our BBS patients with self-care and reporting between visits to the clinic.

Throughout the lockdown period BBS UK, who play a pivotal role in supporting our complex service and the BBS clinical teams held regular national webinars and Q&A sessions with our patients on information about COVID-19, shielding, mental health and vaccinations as well as providing information via a dedicated COVID-19 hub on their website. The feedback from these sessions was very positive with many sessions repeated as guidance and advice changed.

We also continued to give comprehensive telephone support to those that needed it alongside the BBS UK team especially to those that lived alone, were visually impaired and were on the clinically extremely vulnerable list.

The Phase III trial for weight management in BBS patients restarted following a short break during the first wave of the pandemic. The trial was able to continue throughout the subsequent lockdowns due to the facilities and staff at the Rare Diseases Centre. We are very excited to be part of this international trial and eagerly wait to see the long term outcomes for our patients as well as contributing to future transformative therapies on the horizon.