Living with BBS
Receiving a diagnosis of Bardet-Biedl Syndrome is often a difficult and emotional time, both for the person concerned and for members of their family.
We want all those with Bardet-Biedl syndrome to understand their condition, to feel valued and supported to thrive and not to just survive. Over the coming months we aim to develop this section of our website to include lots of useful information to help those with a diagnosis, and their families to live well with BBS. This will include information and resources to support healthy living, physically and mentally.
In the meantime, one of the most powerful things we can share as a community are our personal stories, which can help us all to develop our understanding of what it means, for different people, to be affected by BBS.
This challenge affects people in many different and varied ways and these personal perspectives can be positive and inspirational, as well as helping those who are struggling to cope feel like they are not alone in their experience..
Thank you to everyone who has shared their story – they are hugely valuable and make a big difference to families and individuals affected by BBS, especially soon after diagnosis.
Personal Perspectives
by Christian Bolton-Edenborough
I was diagnosed with BBS1 in October 2014. I am a Masters Law student at Bangor University and I live in Hertfordshire. I go to the Guy’s BBS clinic every year. I know this might sound strange but I was quite thankful of being diagnosed with BBS because it explained a lot of things that happened in my childhood.
by Stefan Crocker
Thank you to Stefan for sharing his story at this year’s conference. Living with Bardet-Biedl syndrome (BBS), Stefan didn’t become a confident independent traveller overnight. In his interview at our annual conference in April 2025, he shared advice for anyone with sight loss who’s thinking about taking that first step: start small, build your confidence,…
by Hannah Young
Last year, on 19th October 2014, I was lucky enough to represent my country in the first England female visually impaired cricket match played in Nepal. I said goodbye to my husband, Sean and my guide dog, Diane at Heathrow airport and flew out to start my adventure. It was a long flight from Heathrow to Delhi and then from Delhi to Kathmandu; I arrived very tired but happy to be there.
by Margaret Begley
My name is Margaret Begley; I am married to Terry and we have three children, Michelle, 28, Christopher, 27 and Terry, 24, and four grandchildren. Michelle and Terry both have LMBBS. Michelle was born with two extra fingers; they were only skin, so they tied them and they came off. Michelle was born with both feet turned in and was in plaster until she was about two and a half; she had a lot of operations.
by Rodger Thyer-Jones
LMBB Syndrome. Ever heard of it? Well I hadn’t until one of my instructors, Stuart Wilson, rang me to say that he had been approached by a woman in search of assertiveness training and confidence building lessons for her 27 year old son, Richard, with LMBBS.
by Phil Humphreys
The boys all came as foster children, just for a month they said with each placement and the months turned into years, which is fortunate for us as they are as much part of us as the girls. We have just resumed fostering after a 12 year break and currently involved with respite care, weekends and holidays (this is our weekend off) along with the before and after school child-minded children, + a dog and cat, life is never dull in our house, sometimes it is a pleasure to escape to work.
by Ciaran Moy
Ciaran is married to Marie, and together they have three children – Erin, Rhea and Pauric. They live in Co. Donegal in the North-Western corner of Ireland. Their young son Pauric was diagnosed with BBS in June 2021 at 15 months old. They attended their first BBS UK conference in 2023 and Ciaran was invited…
by Alan Clark
There are days, when you have a family, that live long in the memory. Days that sit comfortably in the back of your mind, and are remembered the same way each time they break through the humdrum of life to say hello. I personally had one of those days in February of this year. A day that took my breath away.
by James Humphreys
On one of the coldest, wettest, windiest days in January 2006, the Humphreys family drove up to the top of Eglwysillian Mountain in Wales, for me to take part in my latest quest for adventure, QUAD BIKING!!!! ‘Wouldn’t you like to cancel for a dryer day?’ – ‘No way! What’s a drop of rain?’ (Gale force) My Mum’s such a wimp!