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Date: 29 February 2020

Time: 06:07

Experts offer rare disease hope

Story posted/last updated: 15 February 2011

A unique partnership between four of Britain’s leading hospitals is providing improved care for patients with a rare disease which can cause blindness, obesity, kidney failure and diabetes.

Bardet-Biedl syndrome (BBS) affects just one person in every 160,000, which translates to fewer than 400 patients in the United Kingdom. Its rarity makes it difficult to diagnose, and the need for several different specialists means it is complex to treat.

It is one of thousands of rare diseases which individually may affect only a handful of patients, but between them affect the lives of hundreds of thousands of patients. On 28 February, patients, families, clinicians and researchers will mark Rare Disease Day to raise awareness of conditions like BBS.

Clinicians in hospitals in Birmingham and London are already taking action to help patients throughout the country with BBS, helping them to access support and treatment more easily.

Adults with the condition can attend clinics at the Queen Elizabeth Hospital in Birmingham or Guy’s Hospital in London, while children and young people are cared for by Birmingham Children’s Hospital or Great Ormond Street Hospital.

Dr Lukas Foggensteiner, who leads the adult BBS clinics in Birmingham, says the system provides much better care for patients: “By having the dedicated clinics at specific hospitals, we can ensure the range of specialists and support is available in one place at one time for this complex condition.

"Patients at each clinic are seen by consultants in endocrinology, ophthalmology, clinical genetics, psychology, dietetics and nephrology on the same day, as well as getting support and advice from the Laurence-Moon-Bardet-Biedl Society (LMBBS).

“The problem with Bardet-Biedl is that it is often multi-system, and managing this kind of condition needs the input of all these specialists together. These clinics provide that care, and the support of the LMBBS is invaluable because they often contact the patients in the first instance."

LMBBS Clinics Support Worker Julie Sales said the clinics had made a big difference to many patients: “It makes it easier for patients to get the care they need, and we work closely with the four hospitals to co-ordinate travel, accommodation and other needs.”

What is Bardet-Biedl Syndrome?

BBS is a genetic disorder which damages part of the body’s cells called the primary cilia. Although the details of how the disorder develops are still unclear, it is believed to be caused by the mutation of around a dozen genes which produce the primary cilia.

BBS is named after Frenchman Georges Bardet and Hungarian Arthur Biedl, and is closely linked with a condition described by Englishman John Laurence and his American colleague Robert Moon in the 1860s. This is why the patient advice group is known as the Laurence-Moon-Bardet-Biedl Society.

BBS is often first diagnosed due to vision loss in childhood or the presence of extra toes or fingers, and can also cause learning difficulties, genitourinary malformations, diabetes and kidney problems.

Apart from these common primary symptoms, BBS can cause a wide range of secondary symptoms affecting the sensory organs, heart, genitals, and gastrointestinal system. It can also cause obesity and affect mental and physical development.

For more information on Bardet-Biedl Syndrome, please visit the Laurence-Moon-Bardet-Biedl Society website.

For more information on Rare Disease Day, please visit the Rare Disease Day website.

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