Marfan Trust

05/10/2026

Connective tissue connects. And so, when diagnosing a connective tissue condition, we must join the dots between symptoms across the body that can at first appear unrelated. There are many disorders of the connective tissue and at our Patient Information Symposium in London this Saturday we are taking the conversation beyond those conditions we support - Marfan and Loeys-Dietz syndromes - to include Stickler Syndrome. What is Stickler Syndrome? https://tinyurl.com/27zepbv3

04/10/2026

Classification and categorisation can be useful. We sometimes use labels to help us make sense of things. Marfan and Loeys-Dietz syndromes fall within the label of rare disease. Rare diseases are rare alone, but common together. Marfan syndrome affects approximately 1 in 3,000 people in the UK, whilst the prevalence of Loeys-Dietz syndrome is unknown but estimated to be around 1 in 50,000.

For our resources on Marfan and Loeys-Dietz syndromes, click on this link: https://www.marfantrust.org/pages/84-resources

29/09/2026

JOINT STATEMENT: Closure of UCLH Hypermobility Service to New Referrals
For many patients, the Hypermobility Service at University College London Hospitals NHS Foundation Trust (UCLH) is a vital lifeline, but this lifeline may not extend to future generations.

The Ehlers-Danlos Support UK, Hypermobility Syndromes Association and the Marfan Trust are concerned by UCLH’s decision to temporarily close its hypermobility service to all new referrals. We are collaborating in an effort to surmount this challenge, which has significant implications for people with Marfan syndrome and other heritable connective tissue disorders. Here is the background. https://tinyurl.com/48bybjd3

While we recognise the immense pressure facing clinical teams and the unacceptable wait times patients have endured, we are deeply concerned by this decision and its impact on individuals with Heritable Disorders of Connective Tissue (HDCTs), including EDS, Marfan syndrome, Loeys-Dietz syndrome, and hypermobility spectrum disorders.

These complex, multisystem connective tissue conditions require specialist assessment, ongoing surveillance and coordinated multidisciplinary care. Local community MSK services have an important role to play, but cannot be expected to replace the specialist expertise required.

​Together, our three charities are seeking urgent clarity from UCLH and NHS commissioners on:

🔍 Safe clinical pathways for new patients and those currently on the waiting list
🧬 Where individuals with rare, complex, or vascular connective tissue conditions will now be directed
🏥 How operational challenges will be resolved without conflating them with long-term commissioning decisions
👥 How patient groups and clinicians will be meaningfully involved in the upcoming options appraisal

​This is not just about one clinic, it reflects a wider, systemic issue with clear and equitable care pathways for our community across the NHS. We remain committed to working constructively with UCLH and commissioners to advocate for safe, sustainable, and specialist care. https://tinyurl.com/48bybjd3

Ehlers-Danlos Support UK The Hypermobility Syndromes Association

29/09/2026

The engine of our body is today’s focus of attention! It’s World Heart Day, and we’re celebrating by thanking our cardiology advisors, Dr Nitha Naqvi, Professor Christoph Nienaber and Mr Conal Austin, and our patrons, Mr Ulrich Rosendahl, Professor John Pepper and Professor Magdi Yacoub, for their indispensable expertise. And, most importantly, we’re reminding our supporters that we’re here for you when you need us. Here is a link to our resources on Marfan, Loeys-Dietz and the Heart. https://tinyurl.com/mrxfftft
LoeysDietz

28/09/2026

Threading through life are many strands, and Marfan syndrome is only one part of the journey. Mike has shared his eventful life story of diagnosis and MFS, love and loss, friendship and frightening words, surgery and the importance of a support network. Read Mike’s full and fascinating account: https://tinyurl.com/npewsckr

27/09/2026

Navigating the small print of the updated DVLA requirements for Marfan and Loeys-Dietz syndromes? We’ve unravelled the complexities and untangled the guidance to remove the ambiguity. Now we’re here to put you on the straight and narrow! https://tinyurl.com/eenbspmr

24/09/2026

Not confined to humans, Marfan syndrome can affect cats too! Meet Gary and Shaggy, the first documented domestic cats to be diagnosed with the condition.

Gary and Shaggy were diagnosed at the Cornell University College of Veterinary Medicine who say:

'Researchers at the Cornell University College of Veterinary Medicine and the Baker Institute of Animal Health have documented the first molecular characterization of Marfan syndrome in domestic cats, documented in a paper in the September 19 issue of Scientific Reports. "The findings may help veterinarians recognize similar cases in the future,” says senior author Dr. Jacquelyn Evans, assistant professor in the Department of Biomedical and Translational Sciences and at the Baker Institute for Animal Health.

As kittens, feline siblings Gary and Shaggy had noticeably longer limbs, and later examinations revealed problems with the structures of their eyes and enlargement of the aorta, pointing veterinarians toward Marfan syndrome, a rare inherited disorder, seen mostly in humans, that weakens the body’s connective tissues. It affects about 1 in 4,000 people, but this was the first known documented case in cats.”

Read more: https://tinyurl.com/2k2xpu5m

23/09/2026

United behind the spirit of our simple motto, “Together We Can”, the Marfan European Network gathered in Luxembourg for a four-day conference. Twelve countries crossed borders for a heady exchange of information, ideas and experience.

Tal Golesworthy took us inside the story of PEARS, from the genesis of his maverick invention to the growing number of patients whose aortas it is protecting. Dr Warren Ashley invited us to look beyond the conventional boundaries of medicine, while Clinical Geneticist Dr Guillaume Jouret revealed how the FBN1 gene is acquiring its own rulebook, and how variants can offer clues to future risk. And then came 101 Genomes, with tantalising news in their search for modifier genes that counter the cardiovascular implications of Marfan syndrome. We enjoyed not only the talks, but the conversations with fellow Marfan associations - swapping experiences, discussing ideas and learning from each other. Thank you Syndrome de Marfan den-i.lu asbl for such a wonderful time! Read on: https://tinyurl.com/4pch38ux

101 Genomes Foundation

22/09/2026

Opening a window onto the nationwide experiences of people living with Marfan and Loeys-Dietz syndromes reveals rare insight into care - and what must change. We worked with the wonderful Picker on our state-of-the-nation survey... read on!

Working with the Marfan Trust, we surveyed 395 people with Marfan syndrome and Loeys-Dietz syndrome and their carers to understand their experiences of care.

The findings have provided valuable evidence to help identify unmet needs and inform improvements in awareness, information and support.

Read the case study to find out more: bit.ly/MarfanTrustCS

21/09/2026

Knowledge has the power to prevent. A medical diagnosis brings surveillance, and surveillance brings the opportunity to act before an emergency occurs.

Ryan Willows was the inspiration at the heart of a small circle of devoted marathon runners. He died in October last year from an aortic dissection at just 29, with Marfan syndrome the probable cause. In Ryan’s memory, his friends ran the London and Manchester Marathons, carrying his story and its message into the world. https://tinyurl.com/4zxjhjua