The NCBRS Worldwide Foundation is a newly registered charity that aims to support and educate families, carers and professionals who work with people diagnosed with Nicolaides-Baraitser Syndrome (NCBRS).
What is NCBRS?
NCBRS is a rare genetic condition that is present at birth, is usually recognised during childhood, and can affect anyone. NCBRS does not discriminate. It is known to occur in both males and females, and in every culture. Currently there are less than 200 confirmed cases worldwide. NCBRS is caused by a change in a gene called SMARCA2 that has started in a child and is not present in either parent.
Our vision is to create a global community where families, healthcare professionals and researchers work together to ensure that every person diagnosed with NCBRS has every opportunity to reach their full potential. We support this through the provision of support, education, practical advice, face to face conferences (pre-Covid-19 and now virtually), welcome packs, small grants to NCBRS people and their families and the possible funding of research studies into NCBRS.
How did we start
Several years ago we – two parents from the UK and Canada who each have a child diagnosed with NCBRS, met through the NCBRS Parent support group. Over the course of many years and many conversations, we dreamed of taking the NCBRS Parent Support Group one step further. As the syndrome is so rare with fewer than 200 confirmed cases worldwide it was important to us to increase awareness and so it was decided to start a global organisation, and one year ago in June 2020 this dream became the NCBRS Worldwide Foundation.
After establishing the NCBRS Worldwide Foundation last June we rebranded our NCBRS website along with our logos and graphics. We also welcomed an additional four board members from Australia, USA, UK and Ireland to help the Foundation fulfil its mission. An online NCBRS merchandise store was created with a range of apparel and other items available to purchase which helps to promote awareness as well as supporting the Foundation financially.
We have created a global patient registry where de-identified data is stored to help better understand NCBRS and to support possible research studies. We have partnered with many organisations including Genetic Alliance UK to help further spread awareness and support of NCBRS.
We held our first-ever global awareness day on 9 October 2020. This date was chosen in honour of the first person with NCBRS described in scientific literature and this date will continue to be the official annual awareness day in years to come.
We have held several virtual Zoom meetings with our NCBRS families from all over the world, which has been an amazing way to form relationships and is something we will continue to schedule on a regular basis.
It’s difficult to believe how much we have accomplished in this year since starting up our Foundation in the midst of a global pandemic. The achievements we’ve made would not have been possible without the continued support from our other board members, families, medical professionals and the organisations we’re partnered with. We cannot thank you enough for all your kindness, encouragement and efforts in supporting us, the NCBRS Worldwide Foundation and all the NCBRS families.
For more information on the NCBRS Worldwide Foundation visit their website.