Alström Syndrome UK (ASUK) manage the UK database of people diagnosed with one of the most complex and rare conditions in the world and work in partnership with Birmingham Children’s Hospital, and the Queen Elizabeth Hospital, Birmingham to provide a highly specialised multi-disciplinary clinical service funded by NHS England.
The charity also provides family support services, promotes research, raises awareness of the condition and provides information and support to professionals working with individuals and families diagnosed.
Alström Syndrome (AS) is a rare recessively inherited disease causing progressive blindness, hearing loss, heart failure, kidney failure, type 2 diabetes and many associated problems. AS can occur in people of any nationality and the symptoms can vary greatly from person to person, even amongst siblings the symptoms can differ.
Where did the project begin?
In 2008, ASUK were concerned that the majority of people diagnosed with AS in the UK were predominantly White British and parents were un-related. Statistics have shown that there is an increased chance of a child being born with a genetic condition within families where consanguineous marriages are customary. Therefore, it was highly probable that there were people affected in the UK who either had not received a diagnosis or were either unaware of, or chose not to access, the support of ASUK and the clinics. Due to the severity and complexity of Alström Syndrome, a key role for ASUK is to promote early diagnosis and provide access to the specialist clinics. Although consanguinity is common within different communities, ASUK developed a project to work specifically within South Asian communities to raise awareness of AS with an aim to increase diagnosis and offer accessible information and support. In the initial stage, a member of staff was identified to develop the outreach support and following some success and an increase in referrals, a more detailed and focussed project called the Asian Mentoring Scheme (AMS) was established in 2013. Funding for a three year project was secured from a variety of grant providers, the main funders being the Sylvia Adam’s Charitable Trust.
Throughout the duration of the project, ASUK identified a significant number of people who received a diagnosis of Alström Syndrome and they received a number of new referrals from within South Asian Communities. This is largely due to the fact that they provided specialised support to South Asian families, worked throughout the UK to raise awareness of the condition and actively encouraged families to engage with the organisation and with the medical teams in Birmingham.
Bridging the gap
ASUK have helped to develop community links and crossed many boundaries to reach families affected by Alström Syndrome by working sympathetically and empathetically with parents. This has been achieved through dedicated support workers who have developed their knowledge and understanding to provide inclusive and supportive services to individuals and families. ASUK were fortunate to have staff, South Asian and White British, who were personally affected by this condition and, in many ways, they were seen as mothers rather than professionals. This was crucial in establishing many of the initial relationships as it was believed that they had a true understanding of the impact of the disease and this helped to facilitate discussions around genetics and inheritance patterns.
A child born with a genetic condition, particularly where consanguinity is common within the wider family, has an impact on all extended family members. A key part of the AMS was to work with families to remove any stigmas and ensure a clear understanding of Alström Syndrome was achieved. Only when families have an understanding of the support and genetic testing available and have knowledge of the impact of the disease are they able to make informed choices about future pregnancies.
Determining carrier status amongst siblings was also successful with many of them accessing the support of regional genetics services. ASUK formed productive links with genetics centres throughout the UK and have referred families for pre-natal testing and to explore pre-implantation genetic diagnosis.
One of their main achievements to date has been the increase in the number of families attending the specialised clinics in Birmingham. Unfortunately for many individuals, additional health related concerns were identified but they were then able to receive the correct treatment and advice. This highlights the importance of these clinics and the need to engage with families as early as possible as this work directly affects the health outcomes for people diagnosed with this condition.
As an organisation, ASUK now feel they offer a diverse and inclusive support service to individuals and families and are committed to listening to the voices of their members to ensure they are continually developing the support they offer.
Following the success of the project, Sylvia Adams Trust decided to develop and invest in additional work in the field of genetics with a particular focus on autosomal recessive conditions. They granted further funding to ASUK to enable the project to support similar organisations to ensure people affected by genetic conditions can find support in an inclusive and supportive way.
The project was re-named ‘Breaking Down Barriers’ to ensure we develop and include supportive services for all who may feel unable to access these.
The project is now managed by ASUK and has grow from strength to strength. In 2020 it now has 29 organisations all collaberating together, focusing on inclusive services for all and how we ensure the needs of all are addressed.