Our Journey

ASUK became a registered charity in 1998 and was established to unite families affected by the condition. The charity attracted interested clinicians and researchers and over the years, built up a database, a family support service and were instrumental in securing funding for an NHS highly specialised service for Alström Syndrome.

In 2008, we recognised that only 3 people on the charity database were from an ethnic minority community. Despite Alström Syndrome being an ultra-rare condition, the diversity of the UK population and the fact that the condition is recessively inherited, led us to believe that there should be more people affected by the condition from diverse communities. We therefore embarked on a journey to identify as many people as possible and to ensure that everyone affected by Alström Syndrome received the same level of support and access to healthcare.  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.

At the beginning of 2008, most people known to us that were diagnosed with Alström Syndrome in the UK were White British and parents were un-related. Statistics have shown that there is an increased chance of a child being born with a recessively inherited condition within families where consanguineous marriages are customary (1). Therefore, it was highly probable that there were people affected in the UK who may not have received a diagnosis or were either unaware of, or chose not to access, the support of ASUK and the clinics. Although consanguinity is common within different communities, ASUK developed a project to work specifically within South Asian communities to raise awareness of the condition, increase diagnosis and to offer accessible information and support. In the initial stage, a member of staff was identified to develop 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 Adams Charitable Trust.

Throughout the duration of the project, ASUK identified a significant number of people from South Asian communities who received a diagnosis of Alström Syndrome. We developed community links and crossed many boundaries to reach people affected by the condition by working sympathetically and empathetically with parents and wider family members. A child born with a recessive condition can have implications for wider family members, particularly where consanguinity is common within the family. A key part of the AMS was to work with families to remove any stigmas and to support people to develop a better understanding of Alström Syndrome and the support and genetic testing available. Only when people are provided with accessible information, can they make informed choices about future pregnancies.

Determining carrier status amongst siblings was also successful with many siblings accessing the support of regional genetics services. ASUK formed productive links with genetics centres throughout the UK and have facilitated referrals for carrier testing, pre-natal testing and to explore pre-implantation genetic diagnosis.

ASUK provided dedicated support workers who developed their knowledge and understanding to provide inclusive and supportive services to individuals and families. We were fortunate to have staff, South Asian and White British, who were personally affected by the condition, and, in many ways, 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 condition, and this helped to facilitate discussions around genetics and inheritance patterns.

Over time, ASUK tried and tested different approaches, developed our cultural humility, adapted the services and support we provided and became more inclusive and accessible. We built up trust, shared information and developed our own knowledge and understanding by listening and learning from people with lived experience. People started to engage and become involved with ASUK and in time, started to attend multi-disciplinary clinics. Sadly, for many people, additional health related concerns were identified at clinics, but they were then able to receive appropriate 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 the condition.

Although we initially targeted people from South Asian communities, we soon began to extend our work more broadly throughout the UK within diverse and marginalised communities.