BBS UK participates in BBS global day to support individuals affected by Bardet Biedl syndrome
Worldwide event to support continued research and provide resources to improve the care of rare genetic disease
BBS UK, the only registered charity in the UK supporting those that have this rare inherited disorder, today announced participation in BBS Global Day to support families affected by Bardet Biedl Syndrome (BBS), for which there is currently no cure.
“By joining as one BBS community, we are stronger and louder; together we can improve awareness and understanding of BBS at a global level – the support and resources that we share with each other will ultimately benefit us all.”
BBS is a rare genetic disease present from birth with highly variable symptoms that may include retinal degeneration, obesity and hyperphagia, reduced kidney function, and polydactyly among many other features. While there are more than 20 genes associated with BBS, the underlying cause is malfunction of primary cilia, a key component of cellular communication. BBS is estimated to affect approximately one in 250,000 people around the world, including over 500 individuals in the UK.
BBS Global Day held on September 25th, 2021, is designed to support ongoing research to improve the understanding of BBS and identify potential new treatment options, as well as the development of resources and educational programs to improve the care of BBS. Communities in different countries around the world are hosting local events and initiatives in this collective effort.
“BBS UK gave us fantastic support in the early days of diagnosis, the lack of knowledge and understanding about BBS can be so isolating and overwhelming,” said one mother, she added “it is just wonderful to know that we are coming together as one big BBS family to raise awareness and to support research –together, people will hear our collective voice and this gives us hope for the future.”
About 500 New Friends
The “500 New Friends Initiative” is our nationwide push to increase awareness of BBS and the individuals, their parents, and carers in the UK. Signing up as a Friend will also crucially develop a sustainable financial stream to continue our work reducing exclusion and isolation, offering practical help and guidance to those newly diagnosed and producing valuable resources such as professional information booklets for those in education and medical services. Raising £30,000 by each Friend giving just £5 per month, could secure these services for the future. Visit www.bbsuk.org.uk for details.
Charity Reg Number 1181244, Registered address: 43 Balton Way, Dovercourt, Harwich, Essex. CO12 4UP Established in 1992 it is a small charity supporting 4 specialist clinics in London and Birmingham, providing an advice service, professional and family resources and activities for those with the condition. www.bbsuk.org.uk
Additional facts:
The syndrome is named after Georges Bardet and Arthur Biedl. Two researchers who identified the genetic disorder.
It is a rare inherited disorder affecting 1 in 100,000 babies born affecting both male and female across all societal groups. Currently between 500-600 people in U.K.
The diagnosis of BBS is established by clinical findings and family history. Molecular genetic testing can be used to confirm the diagnosis.
”Though treatment of symptoms is available, and research is accelerating there is currently no cure.
BBS U.K. is the only charity in the U.K. supporting those with the syndrome. BBS Global Day recognising the disorder around the world is September 25th, 2021.
There are a variety of symptoms but not every case will have all of them: extra digits / toes,
”obesity, kidney abnormalities, developmental delay and learning difficulties. All will however have visual impairment which defines as night blindness in primary school followed by gradual loss of vision, with average age of registered blindness being 15 years old.
Please contact BBS UK if you require any further information or indeed would like to be put in touch with a family or individual who have experience of living with BBS.
