Living with a rare disease: Bardet-Biedl Syndrome

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A photo of Ben, a young adult with BBS, sitting at a computer wearing headphones

Tonia Hymers talks about what it’s like to have Bardet-Biedl Syndrome, and shares experiences from children who have this syndrome

Children and adults with Bardet-Biedl Syndrome may experience any of the following symptoms due to their disease; visual impairment, obesity, kidney abnormalities, developmental delays, speech and language difficulties, extra fingers and/or toes and learning difficulties. Not everyone who has BBS will have all of these symptoms, and the effects will be different for everyone; some may have mild symptoms and others may have more severe symptoms, for example some may have global developmental delay with significant learning difficulties, yet others may go on to higher education. There can also be significant variation between siblings affected by the same gene. Someone registered as severely sight impaired at a young age may have a sibling with BBS who has good useable vision into their twenties. 

What is BBS?

BBS is an inherited and chronic disorder. When both parents are carriers of the BBS gene, there is a one in four chance that their child will have BBS. Families from all communities and all ethnic groups can be affected by genetic disorders, including BBS, but as an inherited disorder, BBS is more common in closely related communities where couples are blood relatives. 

Where BBS is confirmed genetically within a family, a simple carrier test is possible in at-risk adult relatives (e.g., siblings) to help them make informed family planning decisions. The option of Prenatal testing and Pre-implantation Genetic Diagnosis (in some families) is available where the BBS gene has been identified. 

The aspects of BBS that affect almost everyone diagnosed and have the greatest impact are sight loss, obesity and learning and emotional difficulties. 

Rod-Cone Dystrophy

Children with BBS often experience Rod-Cone Dystrophy. Rod-Cone Dystrophy is similar to Retinitis Pigmentosa and usually begins with night blindness during primary school years followed by a gradual loss of peripheral vision. The average age of registration of visual impairment for children with BBS is fifteen years.

An individual with static vision loss will learn their limitations and develop adaptive coping strategies. However, when the visual impairment is progressive and fluctuating (depending on light and energy levels), these strategies gradually become less effective and protective. A sensory team or qualified teacher of vision impairment (QTVI) should be involved from an early age to help children deal with these challenges.

A young student told us, ‘Not always having my resources for the lesson prepared beforehand means I can’t always do as much as everyone else’. 

Another said, ‘Sometimes I can’t see stuff, so I struggle in the lesson. When they turn the lights off to use the board it’s frustrating as I can’t then see because of my [poor] night vision’.

There are many simple adaptions that will make the learning environment better for young people with BBS. Examples include keeping layout changes to a minimum, allocating a first or last cloakroom peg, being aware of and managing light sources (they should be behind or to the side of the student). Teachers can also use matte lamination on displays, flash cards and activities to reduce glare. Children with BBS may also have poor facial recognition; using verbal cues and individual names enables them to follow the lesson. Access to a laptop or tablet will allow the student to enlarge/adjust contrast as needed. lesson resources should be pre-loaded or emailed to the student in advance and class and individual white boards should be kept clean to aid contrast and clarity. 

Obesity

Obesity commonly affects those with BBS, usually commencing in childhood. The cause is currently unknown, but research is being done to find out why children those with BBS are often obese. There is no single treatment approach, but those with BBS can successfully lose weight and a healthy well-balanced diet and active lifestyle approach is advocated.

Obesity in BBS exposes children and young people to bullying and it is vital that teaching and support staff understand that being overweight is not always because of over-eating and that they communicate this to the other members of the class and school. Additionally, anti-bullying programmes should aim to decrease weight-based discrimination. 

Learning and Emotional Difficulties 

Children and young people who have BBS often have some degree of learning disability, but they can do well in mainstream education if good support and low vision aids are available. There is a great variation in learning difficulties among the BBS population. Some individuals are seemingly unaffected, whereas others have severe autism and global developmental delay. For some children, learning difficulties lessen as they mature. However emotional immaturity, poor reasoning, inflexibility, and obsessive thinking can carry through into adulthood.

Many children and young people who have BBS struggle to make and maintain friendships. Social interaction opportunities are vitally important from a young age to enable young students who have BBS to develop their social skills ahead of any visual deterioration. The teaching team can encourage attendance at after school clubs, or support parents by identifying friendships in class to develop outside of school. One of our young members told us; ‘My friends have had mobility training, which has helped if I need support from them. This helps me to have some independence without adults.’

Supporting Children and Young People with Bardet-Biedl Syndrome

Supporting children and young people with BBS requires a dynamic and attentive approach. An agreed package can quickly become inadequate, and it is important that the needs of the child are assessed regularly and with a good understanding of the condition and future prognosis. When asked what they thought their teachers should know about BBS, students told us; ‘They need to understand my type of vision problems and how this can affect my emotions, and they need to understand my low pain threshold’ and ‘They need to know all about the syndrome and how to keep me safe.’ Most of these students with BBS told us that they were fed up with having to keep explaining their condition, and that at times they didn’t feel believed or understood. With more education and a little effort, we can help these students feel heard. A student passport, completed with the child or young person and made available to all teaching and support staff would develop independence and self-advocacy skills and give the student confidence that their team understand BBS, are aware of their needs and are taking them seriously.

Who are BBS UK?

Bardet-Biedl Syndrome UK is the only registered charity in the UK for those who have BBS, their families, and carers. The charity produces information booklets and resources, twice-yearly newsletters, an annual Weekend Family Conference, and a Conference Report and organises events designed to reduce isolation and increase knowledge and understanding across its community.

For more information, go to www.bbsuk.org.uk or email admin@bbsuk.org.uk. For more articles on bullying and prevention, click here.

Tonia Hymers, with brown wavy hair and glasses, smiling into the camera
Tonia Hymers
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Tonia Hymers was first introduced to BBS UK back in 1997 following the diagnosis of her son.  She has been involved with the Charity for 22 years, in a voluntary capacity as fundraiser and then as newsletter editor.  For the past 11 years, she has been employed as Service Manager, managing the Charity’s contract with NHS England providing patient support and advocacy services to those attending the specialised multi-disciplinary BBS clinics in London and Birmingham. 

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