Q1 2021

139 | Q1 2021 Jan21098 Shaping a Better Future The Fibrous Dysplasia Support Society was started by a group of patients and was supported in the early days and continues to be supported by leading experts across the UK. Our trustees are all volunteers and we continue to be amazed by what can achieved through the coming together of like minded individuals who strive to make a difference. In 2015, the Committee Members had raised sufficient funds to invite two leading specialists over from the USA, namely Dr Mike Collins and Dr Alison Boyce, to our patient meeting in Oxford. Relationships have continued to be developed with the international fibrous dysplasia patient groups and medical community. Developments in social media, such as Facebook, has permitted the learning and sharing of information across UK and International patient communities. Through attending rare disease events FDSSUK are building relationships with other rare bone charities, medical professionals, pharma companies and researchers. Work will never stop. It’s important that FDSSUK continue to leave their mark in the world of rare bone disease, in the hope they can help find a cure one day. Fibrous Dysplasia (FD) is a rare bone disease that can affect any bone in the body as well as other organs, such as the skin and hormone glands. The severity of the disease covers a wide spectrum and can result in significant physical impairment. It is caused by a defective gene in the cells that form bone. The cause of the gene defect is unknown, but the defect is neither inherited from the person’s parents, nor passed on to the person’s children. Affected bones often expand, may cause disfigurement, prone to fracture and often painful. Once a bone is affected, it never returns to normal. There is no cure for FD, but there are treatments for the various problems associated with it. Surgical treatment is complicated and is best performed by surgeons with experience with FD. A further complication is McCune-Albright syndrome (MAS) and those affected report birth marks (café-au-lait spots) which can be very disfiguring, and a number of endocrine problems such as periods in the first few years of life (precocious puberty), abnormal height and an over active thyroid. ‘There is no cure for FD, but there are treatments for the various problems associated with it.’ As there are no 100% proven treatments for this condition, much of the care is based on experience and the experience of others. The combination of how rare it is and how variably it can affect people, it is difficult to expect most or even some doctors to really understand the key parts for helping people with FD/MAS. We have been privileged to have achieved support from by leading experts in FD/MAS, Dr Mike Collins, National Institute Health in Maryland and Dr Kassim Javaid, Oxford University Hospitals NHS Foundation Trust to establish a Medical Advisory Board (MAB). The MAB is UK led, although membership is extended, on an exceptional basis, to include leading pioneers outside the UK, helping sign post patients to their nearest expert centre. Our full redesign of our website was completed in 2019 thanks to the hard work and time invested by Trustee Steve Bullock along with the expertise of Steve Morrall, a freelance graphic and web designer. The website functionality can be expanded as we grow to include new and upcoming technologies. The site has received many positive reviews from members. This was achieved through a combination of generous donations and our members arranging a variety of fundraising events. This in turn helps connecting and networking with patients, family members and medical professionals. Having the website also allowed a place for generating literature that would be helpful for patients, families as well as medical professionals. . Information leaflets for both the younger and older generations, which explain the condition in age appropriate formats and signposting, which aids people in finding help from various avenues. Working together the trustees and MAB and leading medical specialists developed a medical Pathway. This provides a set of medically published guidelines, for the treatment of FD/ MAS, for now and for the future. It’s a great achievement for the charity. ‘The support and sponsorships from individuals and other agencies are key to the running of the charity.’ As a charity, we are always seeking support through, benefits in kind, fundraising and holding partnerships with other patient groups, allowing for things from research projects to funding for vital equipment for patients. It is easy to look at this condition in a negative light however, through the hard work and dedication of FDSSUK, there have been many achievements. All the trustees are volunteers, giving up their own time to push this charity forward. They all bring various knowledge and skills to work collectively, striving to support all involved. The charity celebrate annually during International Awareness Week, raising awareness and fundraising as well as dedicated annual conferences, bringing together people from all over the globe, with medics offering guidance from a medical perspective, other agencies giving information and support on support available, from what benefits are available, assistance and aids to living with disabilities and psychological support. www.fdssuk.org.uk Contact Heather Wall