The Ehlers-Danlos Society recently hosted its first-ever Ehlers-Danlos Global Learning Conference in Madrid, Spain. The widely successful event, featuring one-day learning events for both patients and health professional, saw attendees from all over the world. In another first, Patient Day presentations were translated live in 5 languages.
Conference attendees had the opportunity to learn directly from leading world-experts in Ehlers-Danlos syndromes (EDS), hypermobility spectrum disorders (HSD), and related symptoms and conditions. Informative presentations were given on topics from mast cell activation syndrome to neurology, and from gastrointestinal complications to gynaecological issues, with invaluable question and answer time with these distinguished professionals.
The atmosphere was one of excitement and hope; many of the patients who attended had never met anyone else with EDS before the conference, and all were excited to learn about the advances in both research and management techniques for those with EDS and HSD.
HEDGE GENETIC RESEARCH STUDY – THE FIRST SCREENING EVENT
The Madrid conference was also the location of the first-ever screening for the Hypermobile Ehlers-Danlos Genetic Evaluation project, also known as the HEDGE study, to identify the genetic cause of hypermobile Ehlers-Danlos syndrome (hEDS). Individuals with hEDS were invited to become the first ever subjects in the pioneering study from the information they had submitted to the EDS Global Registry.
After a consenting procedure, participants consulted with a medical professional who confirmed the hEDS diagnosis according to the 2017 criteria. Those who were confirmed then provided a blood sample to be used in the HEDGE genetic study. The samples will undergo whole-genome sequencing and analyzed alongside 1000 total genomes in an effort to find the elusive genetic cause of hypermobile Ehlers-Danlos syndrome.
“Our first screening day was amazing, we are very happy with the outcome,” stated Angela Ballard, former Research and Registry Coordinator for The Ehlers-Danlos Society. “We want to understand the genetic markers behind hypermobile EDS, to allow the development of treatment and management of the condition. It has been very exciting, we have had patients from all over Europe coming to be screened, and it’s going to lead to a lot of answers for our community”
MADRID HEALTH PROFESSIONALS DAY
Saturday, 6 April saw medical professionals across all disciplines, from Spain and from across Europe, gather for Day 1 of the Ehlers-Danlos Society Global Learning Conference. This event featured presentations and workshops focused on helping health professionals that work with EDS/HSD patients provide higher levels of patient care, offering them insight into the latest advances in research, and presenting clinical case studies.
The conference opened with a talk by The Ehlers-Danlos Society’s International Executive Director Lara Bloom discussing the work of The Ehlers-Danlos Society, ways to get involved further to advance our strategic priorities, and providing insight into the challenges our patient communities are facing. “Some people have waited 3 years for their appointment, and they may have 15 minutes with you. Sometimes the presentation of the patient’s list of symptoms can be overwhelming for the professional; it’s important to remember that and try to keep in mind all of the complexities when seeing that patient. We need professionals who are willing to learn; time and commitment are needed. Validation is everything.”
Dr. Alan Hakim’s talk, entitled “How do I diagnose EDS/HSD and the associated symptoms and conditions?” drew many questions from attending health professionals discussing presentations in their clinics. “We are a really exciting time learning about the pathology, genetics of EDS.” stated Dr. Hakim, Education Director for The Ehlers-Danlos Society. “The more common variants of Ehlers-Danlos syndrome are often not recognised, as they don’t fit with rarer presentations learnt during medical training. Huge amounts of resources for medical professionals are now available at ehlers-danlos.com with webinars, research papers, and of course, EDS ECHO.”
Project ECHO is an innovative education and collaboration program for health professionals across all specialties who wish to improve their knowledge and ability to care for patients with EDS, HSD, and associated symptoms and conditions. Participants can join weekly free CME/CPD accredited virtual meetings with clinical experts for an ongoing rotation of EDS/HSD educational presentations followed by a chance to ask questions and present cases from their own practices for feedback and assistance. At the conference, health professionals were encouraged to promote EDS ECHO with their colleagues, advancing knowledge and bringing care closer to home for patients.
“We have had a tremendous amount of interest in EDS ECHO” stated Lara Bloom, “We know that the need for this is out there, we want knowledge of EDS and HSD to echo out all over the world. Downloadable flyers are now available on our website to allow both patients and professionals to increase interest in EDS ECHO, and we have been giving out details of how to register whilst here in Madrid.”
MADRID PATIENT DAY
Sunday 7 April was Patient Day, the first conference from The Ehlers-Danlos Society to feature live translations of the presentations. The talks were translated into Spanish, Italian, German, Dutch, and French, offering a new level of access to the EDS and HSD community.
The day began with a talk from Dr. Fransiska Malfait on “Understanding EDS/HSD and the associated symptoms and conditions”, along with case studies of all types of EDS, their clinical presentations and genetic causes. Dr. Malfait is trained as both a clinical geneticist and a rheumatologist and is involved in the genetic counseling and clinical care of patients with heritable connective tissue disorders (HCTD).
Notable sessions included a presentation on pain management from United Kingdom rheumatologist Dr. Helen Cohen, which discussed an understanding the complexities of pain and the importance of addressing the association between the brain and body in effectively managing pain. Dr. Anne Maitland presented the latest research in, and diagnostic criteria for, mast cell activation syndrome (MCAS). Session breaks allowed patients and speakers to network with one another as they discussed the presentations so far.
“Everyone has been waiting for the talk on mast cell” stated Lara Bloom, “it’s an area of interest to so many of our patient and professional communities. There is a great energy here and thirst for knowledge”. Dr. Anne Maitland took time with many patients in the session breaks and stated, “the conference has been fabulous, not only in talking to patients and understanding what they are dealing with, which will generate more questions that will need to be addressed. It’s also the cross-talk with practitioners here in Madrid and back in the States, who are asking really interesting questions and advancing their knowledge, which is most important.”
Attendees from support groups and organizations across Europe told of their excitement and commitment to increasing awareness and support in their countries. “We learnt about the conference and the work of The Ehlers-Danlos Society through Facebook. We have an organization in Italy, and we want to learn of ways to work with The Ehlers-Danlos Society towards common goals. The conference has been very good, with great people presenting. We have learnt a lot of information and have met with medical professionals across all disciplines, which has been fantastic.”
Lara Bloom spoke with patients during session breaks; Christina Edman had traveled from Sweden, south of the Arctic Circle to attend, “My mind has been blown by all of the information and this event. We have nothing like this in Sweden, and I have a daughter who has classical EDS and this information has been so valuable – I will definitely be back to attend further conferences.” Another patient named Callum had flown from the UK to be in attendance, “ I’ve found the information so informative about my condition, I know so much more now about myself. The pain management talk by Dr. Helen Cohen was so insightful.”
FINAL THOUGHTS
“It’s been so fantastic here in Madrid, we were so pleased to see so many from our communities, both patient and professionals in attendance” exclaimed Events Manager Stacey Simmonds, “We have met with people from all corners of the globe, the atmosphere is electric with positivity and the feedback has been amazing.”
“What an amazing conference” stated Lara Bloom. “So many professionals and patients were interested in expanding their knowledge and increasing awareness and 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 to increase knowledge of EDS and HSD on a global scale.”
Thank you to all of our speakers, and platinum sponsors ANSEDH for helping us make this happen. Thank you to our supporting sponsors DM Orthotics and Chiari Hypermobility Barcelona.
