One Society, A Home For All

Posted July 19, 2019

Many around the world face a diagnostic odyssey: years, sometimes lifetimes, fighting for recognition, diagnosis, and care. The Ehlers-Danlos Society is working towards a time when geography and wealth no longer determine your quality of life.

Education is needed to advance early diagnosis and intervention—and post-diagnosis, patients urgently need support and guidance. We want to give hope to all those living with the Ehlers-Danlos syndromes and hypermobility spectrum disorders. To do this effectively, we need change. 

We are listening. We understand that we have not fully served, nor offered the support and resources needed, for those living with all types of Ehlers-Danlos syndrome and hypermobility spectrum disorders. While we know there is a higher prevalence of those with hEDS and HSD, we cannot minimize the struggles and needs of those with other types of Ehlers-Danlos syndrome.

From this day forward, we commit to supporting effectively those living with and affected by each of the Ehlers-Danlos syndromes, and the hypermobility spectrum disorders. We are creating a safe home for everyone globally, with a dedicated network of support and research.

INCLUSIVE EVENTS

The Ehlers-Danlos Society is committed to hosting global conferences with world-leading speakers and presentations, specific to and relevant for all types of Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorder (HSD).

In 2020, Global Learning Conferences in Paris, France and Arizona, USA will see inclusive talks on the latest research and management guidelines for both patients and health professionals. Sessions will be live-streamed, so our communities globally can dial in to watch presentations without the need for travel. Our European learning conference will see presentations translated into five languages, to allow more members of our community to access education and support. 

We will host dedicated events for our communities. 

In Austria, May, 2020, members of our patient community living with; arthrochalasia EDS (aEDS), Brittle Cornea Syndrome (BCS), cardiac-valvular EDS (cvEDS), classical-like EDS (clEDS), dermatosparaxis EDS (dEDS), kyphoscoliotic EDS (kEDS), musculocontractural EDS (mcEDS), myopathic EDS (mEDS), periodontal EDS (pEDS), and spondylodysplastic EDS (spEDS), will gather for a one-day conference on managing the Ehlers-Danlos syndromes. 

August 2020 will see our first vascular Ehlers-Danlos syndrome family weekend, partnering with Camp Joy in Cincinnati, Ohio, USA. We hope to see the biggest gathering of the vEDS community in the world, with educational presentations from world-leading vEDS specialists. The Ehlers-Danlos Society has secured a grant to fund those in the community with a “pay what you can afford” program. 

September 19, 2020 will see expert speakers from all over the world, gather in Houston, Texas to present the latest in research, clinical care, and management in classical Ehlers-Danlos syndrome for a one-day conference for both healthcare professionals and patients and their families.  

Later this year, we will host our first conference in Scotland, exploring the mind-body connection in the Ehlers-Danlos syndromes and hypermobility spectrum disorders. Renowned speakers from the UK will share their clinical experience and consider the literature on psychosocial well-being, highlighting the importance of a holistic approach in supporting individuals with EDS and HSD. Patients and carers of people with EDS and HSD, will also share their experiences of living with these conditions, and the benefits and hurdles of using these tools.

ACCESSIBLE GLOBAL RESOURCES

We are committed to our global mission, supporting communities worldwide and educating health professionals to diagnose, care for, and treat them. We now have toll-free international helpline numbers for 28 countries, to provide our communities with dedicated support. 10-15% of our helpline calls are from medical professionals seeking advice and resources for patients.

A dedicated vascular Ehlers-Danlos syndrome helpline will be developed, providing health professionals access to the most up-to-date emergency information for the safety of their vEDS patients.

This will be accompanied by a vEDS-specific health professionals directory. 

We are excited to announce a full website rebuild over the coming year, along with a dedicated focus on EDS/HSD resources in seven languages: English, Arabic, Dutch, French, German, Italian, and Spanish. With the International Consortium, and collaboration with all EDS/HSD experts around the world, we have never been in a better position to serve all of our community.

Resource guides and information will be provided to help support with: diagnosis; management; living well with the Ehlers-Danlos syndromes and hypermobility spectrum disorders; resources for schools, parents and teachers, to help children with all types of EDS and HSD enjoy a safe environment to learn in; skin and wound care; surgical advice; emergency information; and much more. Each EDS type will have a dedicated home on the website with information and advice.

We are working with our Comorbidity Coalition and the International Consortium on developed clinical care pathways for management and diagnosis. This information will be translated into Arabic, Dutch, French, German, Italian, and Spanish, and should be released in the next 12-18 months.

GLOBAL EDUCATION IN HEALTHCARE

We are working hard for world-wide awareness—and a better quality of life for all who suffer from these conditions. EDS ECHO seeks to tackle a key issue facing patients with EDS and HSD: lack of knowledgeable clinicians. Too many in our community report that they are forced to travel far and wide to access a physician who knows how to manage their healthcare, often at great personal expense, and often with incredibly long wait times of over 2 years. EDS ECHO is helping us reach clinicians all over the world, arming them with the tools and knowledge to care for their own patients with EDS and HSD.  

EDS ECHO covers all types of EDS, HSD, and associated symptoms and conditions, providing clinical case presentations, the latest management advice, and evidential research. We are also excited to launch vEDS ECHO in late 2019, a program led by Dr. Sherene Shalhub that will be dedicated to increasing awareness and education in all aspects of diagnosis and management of vascular Ehlers-Danlos syndrome. Early 2020 will see the introduction of EDS ECHO programs dedicated to orthopedics, physiotherapy and pediatrics. 

We are thrilled to have so many professionals and patients interested in expanding their knowledge and increasing awareness by joining EDS ECHO. We want attendees and all of our communities to help us in our mission to have 1000 new EDS experts by 2022, and to help us increase knowledge of EDS and HSD on a global scale. If you are a health professional, please click here to join our Fall 2019 program. If you have EDS, HSD, or are affected by these conditions, please tell your healthcare team about EDS ECHO and download the flyer, here. 

Our scientific meeting this year will be held in Tokyo, Japan, where we will be delighted to host and collaborate with healthcare providers and researchers. World-leading invited speakers will present cutting-edge research updates on clinical advances and the molecular and pathogenic mechanisms of EDS. Besides state-of-the-art presentations on classical and vascular EDS, the latest medical and scientific achievements in other types of EDS, including arthrochalasis, dermatosparaxis, kyphoscoliotic, classical, classical-like, cardiac-valvular, spondylodysplastic, musculocontractural, myopathic, vascular, and periodontal EDS will be discussed. 

RESEARCH

Research is at the center of what we do. We have funded $275,000 in research projects this year to improve our understanding of topics with profound impacts on individuals who live with EDS and HSD: diagnosis, pain, life-threatening vascular complications, and genetic evaluation. By the end of 2019 we will have announced a further $500,000 in research funding. We will also have some very exciting announcements about our 2020 research funding coming out later this year.

Dr. Sherene Shalhub and Dr. Peter Byers have been awarded $75,000 for their project, “Outcomes of aortic and arterial surgical interventions in individuals with Vascular Ehlers-Danlos Syndrome.” The two will lead a team of researchers conducting a thorough review of 1000 vascular EDS patient medical records from multiple clinicians to assess the effectiveness of a variety of approaches used to help vEDS patients prevent, survive, and recover from life-threatening vascular events.

Dr. Marina Colombi’s team will receive $50,000 for “Proteome profiling for hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders to unravel pathogenetic mechanisms and identify potential biomarkers supporting clinical diagnosis,” which will examine skin samples from individuals with hypermobile Ehlers-Danlos syndrome (hEDS) and HSD in an effort to better understand how hEDS and HSD alter connective tissues, with the goal of identifying recognizable differences that can help definitively diagnose individuals with these conditions as well as point towards potential treatment and intervention strategies

Dr. Fransiska Malfait has been granted $75,000 to lead her team in “Exploring Causal Pathways for Chronic Musculoskeletal Pain in the Ehlers-Danlos syndromes,” which will investigate both humans with hEDS and cEDS, as well as mice with cEDS in a two-pronged approach to better understand how pain manifests in these conditions on a molecular level and determine if these findings might be able to inform new diagnostic or treatment approaches.

An additional fund of $75,000 has been awarded to Dr. Raymond Dalgleish to refine and improve the Ehlers-Danlos Syndrome Variant Database, which has been collecting sequencing data from Ehlers-Danlos syndromes research for over 30 years. This collaborative database is widely used worldwide by both clinicians and researchers but has limited use in its current, outdated form. 

Eight further global screenings have been announced for the HEDGE — Hypermobile Ehlers-Danlos Genetic Evaluation. This research endeavor represents the most comprehensive, collaborative effort to date in seeking to understand the underlying causes of hypermobile Ehlers-Danlos syndrome at the level of genes and gene expression. If we can achieve a better understanding of the underlying genetics and the gene expression abnormalities, we may be able to develop diagnostic tests and find more specific treatments for hEDS—and, potentially, the hypermobility spectrum disorders.

There have been great strides in biotechnology over the last two decades and the ability to understand and find treatments for genetic syndromes is at a turning point. Detailed research into the underlying issues causing hEDS and HSD will help determine where to target therapy. This genome sequencing study is the next step in our overall project to make the hope of these new technologies a reality.

Thank you to everyone who has already taken part in the HEDGE study. To register to participate as one of the 1000 individuals with hEDS to have blood drawn for whole genome sequencing, please click here. 

THE GLOBAL REGISTRY

Help us with research and understanding the true prevalence of EDS and HSD, globally, by joining the registry. 

We need as much data as possible to better understand the different sub-types and their varying, multi-systemic impact on patients. The global EDS and HSD registry aims to collect a wide range of data from people living with all types of Ehlers-Danlos syndrome and those living with hypermobility spectrum disorders. 

Given the different ways in which the Ehlers-Danlos syndromes and hypermobility spectrum disorders can present, it will also help us to raise awareness and support clinicians to recognise signs and symptoms more effectively. The registry will also provide new opportunities for research – including identifying links between EDS/HSD and other conditions. Without this understanding, patients will continue to be mis- or undiagnosed.

TOGETHER WE DAZZLE

The Ehlers-Danlos Society staff team has now grown to 18 members of staff across the world, proudly working to provide global learning conferences, collaborative research and education initiatives, awareness campaigns, advocacy, community-building, and care for the EDS and HSD (Hypermobility Spectrum Disorders) population.

One person fighting is a start, but many together build an army. We strive to give hope to all those whose lives are affected by EDS and HSD. Building our community is therefore vital. We will work hard to support, inform, and guide those affected by and living with EDS and HSD with up-to-date, accessible information to improve their care and wellbeing. 

We currently host monthly virtual support groups to allow anyone worldwide to virtually meet others who understand. We will expand these groups to include meetings at times for our Australasian and East Asian audiences, dedicated vascular and EDS-type specific meetings, parents, partners, and groups for men. 

Help us represent you effectively; take part in our community feedback survey. What would you like to see on our website not currently there? What could we do to help you manage your condition? Please take our survey and help us to build your home within our Society. 

Our strength begins with hope, our hope begins with you. 

Lara Bloom and Shane Robinson

Executive Directors, The Ehlers-Danlos Society

 

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