University Hospitals Birmingham NHS Foundation Trust (UHB) is one of only four centres in the UK that run a clinic for people with the rare Bardet-Biedl Syndrome (BBS), and the way in which that clinic is organised and run is unique in itself.

Sarah Borrows, Clinical Nurse Specialist, explained how the clinic works and how her in-depth involvement with patients even spills over into rainy days in the park.

BBS affects approximately one in every 100,000 babies born in the UK. This genetic syndrome has varied features, though the main ones tend to be rod-cone dystrophy, a progressive eye disorder which can lead to impaired sight and blindness, obesity, renal (kidney) abnormalities, extra fingers and toes and learning disabilities.

Not all features are always present in those diagnosed as having BBS and each one can vary in severity and appearance. The variability in presentation and severity of the syndrome, together with the rarity of the condition, can lead to delayed diagnosis and a lack of adequate care and support, though increased awareness means this is becoming less of an issue.

Apart from the BBS clinic at UHB, the only other centres running clinics for the condition are Birmingham Children’s Hospital, Guy’s Hospital, London and Great Ormand Street Hospital.

The clinic at UHB runs on a Friday, every two months. Five or six patients are seen in the morning and five in the afternoon and in response to feedback from patients, they stay in one room and, apart from sight tests which need specialist equipment, the clinicians move from room to room, patient to patient. Morning patients then get a chance to meet the afternoon patients at a specially arranged lunch in the resource room.

“This meet up is a very important element for BBS patients. The syndrome is rare and this might be their only chance to meet other people with the same condition and similar experiences,” said Sarah.

The BBSUK charity actually takes the lead on organising these clinics and waiting lists, as well as providing a lot of information and support to people with the syndrome. During their time at the clinic patients and their families will meet with a specialist geneticist who can advise on and initiate screening and provide an update on any new information about the disorder.

Sarah’s involvement with BBS started after 25 years as a renal nurse, including some time working in research at the Wellcome Trust research facility. The BBS clinic opened at UHB in 2010 and Sarah started working in it two years later, acting on the patient feedback that asked for the clinicians, rather than the patients, to move around.

Seeing many patients again and again, Sarah builds a solid relationship with the people she cares for, especially local patients who she sometimes visits at home. One such is Aneeba Ahmed from Erdington.

Aneeba, 26, is almost completely blind and has some learning difficulties. Her condition and accessibility issues can cause her great frustration and the work that Sarah does with her in her home offers much-needed support and is something Aneeba really looks forward to. Other local patients suffer from agoraphobia and so the home visits offer a vital life line there too.

Aneeba likes to get involved in fundraising such as Genes for Genes Day, Rare Disease Day and local fun runs in aid of the UHB hospital charity and the Bardet-Biedl Syndrome national charity, BBS UK.

For the past four years Sarah has accompanied Aneeba in the September Canon Hill 5k fun run. “Because of her condition Aneeba has to walk the course and obviously this takes some time, but she is always determined to finish. Last year there was torrential rain at the event and though she didn’t want to give up, I had to stop the walk eventually,” said Sarah.

This year’s fun run is taking place on Saturday 8 September 2018 and Sarah and Aneeba will be there as usual, raising money for BBSUK. Sarah said: “We would love others to join us on the run this year and ask that anyone who is interested gets in touch or lends their support via the BBS UK JustGiving page.”