Disability History Month offers a valuable opportunity to celebrate the stories of individuals, families, and organisations dedicated to supporting those living with disabilities. As our International Awareness Month in November comes to a close, we want to take this moment to share the history of Smith-Magenis Syndrome and the journey of The SMS Foundation UK—from its humble beginnings as a small patient group to the impactful charity it is today.
The Discovery of Smith-Magenis Syndrome
Smith-Magenis Syndrome (SMS) was first identified and described in the 1980s by Dr. Ann C. M. Smith, a geneticist, and Dr. Ellen Magenis, a paediatrician and medical geneticist. In 1982, they began investigating a pattern of similar developmental and behavioural traits observed in two of their patients. These cases prompted their collaboration and culminated in the first formal description of the syndrome in 1986.
Ann Smith and Ellen Magenis identified the condition as being associated with a micro-deletion on chromosome 17, specifically the region 17p11.2. This micro-deletion became the hallmark chromosomal abnormality for diagnosing SMS.
Over the years, advances in genetic testing, including fluorescence in situ hybridisation (FISH) and microarray technology, have made it easier to detect deletions or changes (sometimes referred to as mutations) in the RAI1 gene, which was later identified as a primary gene implicated in SMS.
In the decades following its discovery, medical professionals and researchers have better defined the behavioural, physical, and medical features of SMS. Key symptoms associated with the syndrome include disrupted sleep patterns, intellectual disability, self-injurious behaviours, and distinct facial features.
The first mutations linked to Smith-Magenis syndrome were discovered in 2003 by Slager et al. These mutations were found in the RAI1 gene, which is thought to play a key role in the development of SMS.
Ann Smith and Ellen Magenis’s work laid the foundation for understanding SMS, and their names were given to the syndrome in recognition of their pioneering research.
Creation of the First SMS Patient Group
The journey to founding what is now the SMS Foundation UK began with Julie Jowitt and her son Alex. Born in the early 80s, Alex had a very difficult start in life, with health challenges initially attributed to cerebral palsy. Years of uncertainty followed, as doctors searched for answers. It wasn’t until Alex was nearly seven that the family finally received a diagnosis of Smith-Magenis Syndrome. Finally, there was a name for Alex’s unique combination of difficulties, but the rarity of the condition meant there was no support available.
Searching for help, Julie was introduced to UNIQUE, a support group for families affected by rare chromosome disorders, founded by Edna Knight MBE. UNIQUE’s monthly newsletters and annual conferences provided much-needed connection, and it was through these gatherings that Julie met a small handful of other families navigating life with SMS. This small community, alongside support from UNIQUE and Contact A Family, inspired Julie to take action. In 1992, she decided to set up the SMS Contact Group, making it the first organisation in the world dedicated to supporting families living with SMS and a much-needed lifeline for families like hers.
In those early days—long before the internet made connecting so much easier—Julie rolled up her sleeves and got to work. She wrote to every genetics clinic in the country, urging them to pass on her contact details to any families who received an SMS diagnosis. When she came across medical research on SMS, she personally reached out to the authors, determined to gather as much information as possible and spread the word about the group.
Julie’s efforts extended beyond awareness and with help from Professor Sandy Raeburn, a geneticist in Edinburgh, she created the first leaflet on SMS, featuring a photo of Alex on the cover. She also ran a Christmas card competition to raise funds and awareness—despite a modest start with just two entries, the cards went on to be printed and shared widely. For seven years, Julie personally responded to every phone call, letter, and enquiry from families and professionals wanting to learn more about SMS. Her dedication meant no query went unanswered, and no family felt alone.
From Contact Group to Foundation
By 1999, the group had grown to support 200 families, and it was clear that it needed to evolve into something bigger. With guidance from Contact A Family, Julie and her team formed a committee to transform the group into a registered charity. Olga de Chassy, one of the dedicated parents involved, stepped forward as the first chairperson. A unanimous decision was made to rename the organisation the Smith-Magenis Syndrome (SMS) Foundation, a name that reflected its growing influence and aspirations. Julie’s final contribution was creating the Foundation’s logo—a design that has evolved and influenced the current icon and branding of today.
Thirty Two Years of Supporting Families Living with SMS
Over the past three decades, the SMS Foundation has grown significantly, expanding its support and services to meet the evolving needs of families. What began as small family meet-ups has developed into biennial conferences and national events that bring together families, professionals, and researchers.
We believe the first family meet-up was in 1996, and then a conference style event was held in London in 1999. Since then there have been 10 subsequent events, the most recent taking place in August 2024. Alongside these gatherings, the Foundation has built strong partnerships with medical professionals and research networks, significantly advancing our understanding of Smith-Magenis Syndrome. These collaborations have enabled us to develop a comprehensive library of knowledge and resources, which began as printed materials and are now widely accessible on our website.
Throughout this growth, emotional support has remained at the heart of our mission, ensuring that no family feels isolated or unsupported as they navigate life with SMS.
The Next Chapter for the SMS Foundation UK
As we look to the future, the SMS Foundation UK remains dedicated to evolving and expanding our support services to meet the changing needs of our community. Over the next three years, we will focus on two key programmes designed to provide vital resources and guidance for families living with SMS.
The Parent and Carer Programme will offer comprehensive support to parents and carers navigating the challenges of SMS. This includes emotional support provided by our pastoral team, specialist counselling services for families in crisis, and opportunities to connect with others through family events and conferences. These gatherings are essential for sharing knowledge and preventing the isolation that many families face.
Our second key initiative centres on Education Support Services, addressing the significant challenges families encounter in educational settings. This programme will provide expert guidance, share valuable information, and offer tailored training for schools. Additionally, our 1:1 EHCP (Education, Health, and Care Plan) specialist service will support families in crisis, helping them secure the educational provisions their children need to thrive.
Beyond these programmes, we are committed to deepening our understanding of the physical and mental health needs of adults living with SMS. By advancing research in this area, we aim to create guidance on finding suitable living options and empowering parents to navigate the complexities of supported living. We also aspire to provide targeted training for carers working in supported living environments, ensuring adults with SMS receive compassionate and informed care.
Meet the Cobby Family: Their Life with SMS in Ibiza