2022 International Scientific Symposium – Day 4

Watch the presentations from Day 4 of the International Scientific Symposium 

Diagnostic Pathways – Prof. Fransiska Malfait

Fransiska Malfait (MD, PhD) is Chief of Clinic at the Center for Medical Genetics, Ghent University Hospital, and Associate Professor at the Department of Biomolecular Medicine, Ghent University, Belgium, where she directs the research, clinical service, and laboratory facility for diagnosis and genetic testing for the Ehlers–Danlos syndromes and other heritable disorders of connective tissue. She is a member of the steering committee of the International EDS consortium, the Chief medical and Scientific Officer of the EDS Society, Senior disease coordinator for EDS in the European Reference Network on rare musculoskeletal diseases (ReConnet), and member of the European Reference Networks on rare vascular diseases (VASCERN) and rare skin diseases (ERN Skin).

Centers and Networks of Excellence – Dr. Clair Francomano & Prof. Lara Bloom

Dr. Clair Francomano received her M.D. from Johns Hopkins University School of Medicine and completed her training in Internal Medicine and Medical Genetics at Johns Hopkins. After serving on the full time faculty at Johns Hopkins and in the Intramural Research Program of the NIH, she joined the Greater Baltimore Medical Center in 2005 as Director of Adult Genetics at the Harvey Institute of Human Genetics. Since 2019, she has been a Professor of Medical and Molecular Genetics at the Indiana University School of Medicine and director of the Residency Training Program in Genetics at IU. Dr. Francomano has been involved in the care of patients with Ehlers-Danlos syndrome throughout her career. She is Chair of the Medical and Scientific Board for the Ehlers-Danlos Society and a member of the Steering Committee for the International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders.

Lara Bloom is the President and CEO of The Ehlers-Danlos Society and responsible for globally raising awareness of rare, chronic and invisible diseases, specialising in the Ehlers-Danlos syndromes, hypermobility spectrum disorders (HSD) and related disorders. Before joining the Ehlers-Danlos Society Lara ran EDS UK from 2010-2015.

Lara manages coordinated medical collaboration, raising funds for research and focusing on the global progression of EDS and HSD. She speaks at conferences all over the world, lecturing to medical students and professionals, and supports specialists in the field by offering her experience as a leading Patient Expert.

Collaborative Network Aimed at Strengthening Health Systems for Rare Diseases – Matt Bolz-Johnson

Matt is the Patient Advocate working for EURORDIS and Rare Diseases International who is active in developing clinical networks around the world. He has over 15 years experience working in the rare diseases field. Previously, Matt worked in NHS, England as a hospital manager and commissioner and specialised in rare disease and highly specialised healthcare. 

Models of Care Q&A Session

Recent Advances in HSD and hEDS and Future Directions for Allied Health Professionals – Dr. Jane Simmonds

With more than 30 years of clinical experience and 22 years as a university based educator and researcher, Jane combines her academic role as Professor of Physiotherapy and Health Education at Great Ormond Street Institute of Child Health at University College London with clinical work at the Central Health Physiotherapy, London Hypermobility Unit where she specialises in hypermobility related disorders, PoTS and Osteoporosis. 

Jane is an active researcher and is Chair of the EDS Society International Consortium Allied Health Professions working group and a member of the EDS Society Medical and Scientific Board. She is also an advisor to EDS Support UK, HMSA and PoTS UK. Jane has authored more than 100 research and clinical education publications and webinars on hypermobility,  Ehlers Danlos Syndromes and PoTS. 

Impairments in Adults with Symptomatic Hypermobility Disorders: A Systematic Review of Case-Controlled Studies – Prof. Shea Palmer

Shea Palmer is Professor of Allied Health within the ‘Centre for Care Excellence’, a joint initiative between Coventry University and University Hospitals Coventry & Warwickshire NHS Trust in the UK. Shea is a physiotherapist by background. His primary research interests are in the assessment and management of musculoskeletal disorders, including hypermobility-related disorders. His research has included a very wide range of methodological approaches to better understand and manage these conditions.

Intensive Physical Training in Feasible and Effective in Children with HCTD, Including EDS: A Pilot Study – Lisanne de Koning

Upon the request of the presenter, this presentation was aired live during the International Scientific Symposium and will not be shared further.

My name is Lisanne de Koning, paediatric physical therapist and clinical epidemiologist. I’m an PhD candidate at the University of Amsterdam and employed at the University of Applied Sciences Amsterdam and University Medical Centers Amsterdam. The past 4 years I have conducted my PhD research on Connective Tissue Disorders, including EDS. In collaboration with a team of pediatric physical therapists, pediatricians, clinical geneticists and psychologists we investigated physical functioning and mental health in children with connective tissue disorders. 

Allied Health Q&A Session

Workshop Presenters

Dr. Jane Simmonds

With more than 30 years of clinical experience and 22 years as a university based educator and researcher, Jane combines her academic role as Professor of Physiotherapy and Health Education at Great Ormond Street Institute of Child Health at University College London with clinical work at the Central Health Physiotherapy, London Hypermobility Unit where she specialises in hypermobility related disorders, PoTS and Osteoporosis. 

Jane is an active researcher and is Chair of the EDS Society International Consortium Allied Health Professions working group and a member of the EDS Society Medical and Scientific Board. She is also an advisor to EDS Support UK, HMSA and PoTS UK. Jane has authored more than 100 research and clinical education publications and webinars on hypermobility,  Ehlers Danlos syndromes and PoTS. 

Dr. Shea Palmer

Shea Palmer is Professor of Allied Health within the ‘Centre for Care Excellence’, a joint initiative between Coventry University and University Hospitals Coventry & Warwickshire NHS Trust in the UK. Shea is a physiotherapist by background. His primary research interests are in the assessment and management of musculoskeletal disorders, including hypermobility-related disorders. His research has included a very wide range of methodological approaches to better understand and manage these conditions. 

Mo Maarj

Mr. Muhammad Maarj (Mo) is the Consultant Sports Podiatrist at Narrabeen Sports Medicine centre. Mo has specialised in the treatment of patients with generalised joint hypermobility, working closely with professionals in the field. Mo’s clinical practice includes the use of   prescription orthosis to treat patients with symptomatic generalised joint hypermobility successfully, and he has embarked on PhD research through Newcastle University. The research is looking at the impact of podiatric management on children and adolescents with generalised joint hypermobility experiencing lower limb pain. Mo also works with the Australian Rugby/ Cricket teams and regularly lectures to medical and podiatry students on sports medicine injuries of the foot and ankle. 

Sophie Roberts

Sophie qualified with a BSc (hons) in 1998 from the University of Brighton as a podiatrist and completed her MSc in 2009. Following qualifying, Sophie worked in Canada with the university of British Columbia sports medicine clinic for 4 years where her exposure to biomechanics gained her valuable experience. Sophie works in private practice in London and Surrey in Musculoskeletal podiatry has a special interest in Hypermobility related disorders and lectures regularly within the field. She is also a contributing author in the Oxford text book of Sports Medicine 2nd Edition and worked alongside world experts in other disciplines of sports medicine in the Athlete’s village at the London 2012 Olympic games. 

Jeannie Di Bon

Jeannie Di Bon is a Movement Therapist specializing in working with people with hypermobility, Ehlers-Danlos Syndrome (EDS) and chronic pain with over fourteen years’ experience. Her research and study encompasses Pilates, biomechanics, anatomy, neuroscience and pain management.  Jeannie has hypermobile Ehlers-Danlos Syndrome and rehabbed her body and mind from chronic pain.  
 
Her movement method into hypermobility has been the subject of a research study.  She also educates therapists and teachers for EDS ECHO.

Workshop Session I – Assessment and Management of the Infant and Child

Please use the timestamps below to find the session you would like to watch

Introduction – Dr. Jane Simmonds – 0:00 – 6:55
Prevalence, Impact, and Evidence for Management – Dr. Shea Palmer – 6:55 – 31:54
Musculoskeletal Case Study – Mo Maarj, Sophie Roberts, Jeannie Di Bon, and Dr. Jane Simmonds – 31:54 – 114:23
Multisysem Involvement Case Study – Mo Maarj, Sophie Roberts, Jeannie Di Bon, and Dr. Jane Simmonds – 31:54 – 114:23
Panel Q&A – 31:54 – 114:23

Workshop Session II – Assessment and Management of Adolescents

Please use the timestamps below to find the session you would like to watch

Introduction – Dr. Jane Simmonds – 0:00 – 10:16
Prevalence, Impact, and Evidence for Management – Dr. Shea Palmer – 10:16 – 31:41
Musculoskeletal Case Study – Mo Maarj, Sophie Roberts, Jeannie Di Bon, and Dr. Jane Simmonds – 31:42 – 1:10:36
Multisysem Involvement Case Study – Mo Maarj, Sophie Roberts, Jeannie Di Bon, and Dr. Jane Simmonds – 1:10:36 – end
Panel Q&A – 1:10:36 – end

Workshop Session III – Assessment and Management of Adults

Please use the timestamps below to find the session you would like to watch

Introduction – Dr. Jane Simmonds – 00:00 – 10:00
Prevalence, Impact, and Evidence for Management – Dr. Shea Palmer – 10:00 – 32:55
Musculoskeletal Case Study – Mo Maarj, Sophie Roberts, Jeannie Di Bon, and Dr. Jane Simmonds – 32:55 – 1:14:09
Multisysem Involvement Case Study – Mo Maarj, Sophie Roberts, Jeannie Di Bon, and Dr. Jane Simmonds – 1:14:09 – 1:52:51
Panel Q&A – 1:14:09 – 1:52:51

Workshop Presenters

Prof. Qasim Aziz

Professor Qasim Aziz is Professor of Neurogastroenterology and director of the Wingate Institute of Neurogastroenterology.  

Professor Aziz’s research contributed to the identification of the brain representation of human swallowing muscles and has helped to identify the human brain centers that process gastrointestinal pain and their modulation by injury and stress. His research has explored neurophysiological aspects and treatment of chronic GI conditions . He has performed pioneering research exploring the link between Ehlers-Danlos syndrome and GI symptoms.  

Professor Aziz was awarded the Sir Francis Avery Jones Research Gold Medal by the British Society of Gastroenterology in 1998 and the Janssen Award for Basic and Clinical Research by the American Gastroenterology Association in 2000. He is the president of the European Society of Neurogastroenterology and Motility 

Lorna Ryan

Lorna Ryan is a UK based Registered Clinical Nutritionist/Nutritional Therapy and Lifestyle Medicine Practitioner specialising in supporting those with Hypermobility & Ehlers-Danlos Syndrome (hEDS/HSD). She has particular interest in gastrointestinal manifestations & autonomic involvement, an interest directed from her personal experiences living with hEDS. Lorna holds private practice clinic with an international client base & chair’s The Ehlers-Danlos Society International Consortium on Ehlers-Danlos Syndromes Diet & Nutrition Working Group. Lorna is committed to research and pursuing a PhD in the field of hEDS. 

Dr. Gisela Chelimsky

Gisela Chelimsky, MD, is Professor of Pediatrics at the Virginia Commonwealth University. She is the chief of Pediatric Gastroenterology at Children’s Hospital of Richmond. She directs the Pediatric Autonomic program. Dr. Chelimsky was previously Professor of Pediatrics at the Medical College of Wisconsin and Case Western Reserve University School of Medicine in Cleveland where she also served as Director of Pediatric Autonomic Disorders Program. A graduate of Medical School at the University of Buenos Aires, Argentina, Dr. Chelimsky completed residency in Pediatrics and pediatric gastroenterology fellowship at Rainbow Babies and Children’s Hospital in Cleveland Ohio. Dr. Chelimsky joined the faculty at Case Western in 1996 and rose to the rank of Professor in 2011. She is also board certified in Autonomic Disorders.

Bonnie Nasar

Bonnie Nasar RDN holds a bachelor’s degree in Nutrition and Food Studies from New York University and completed her Dietetic Internship through City University of New York Hunter College. Bonnie is an EDS warrior herself, specializing in nutrition counseling for chronic pain conditions and their comorbidities, including POTS, gastroparesis, fibromyalgia, and mast cell disease. She is also the mother of 4 children, two of whom have mastocytosis. Bonnie has a telenutrition private practice and is the author of “The 30-Minute Fibromyalgia Cookbook”. 

Dr. Katja Kovacic

Dr. Kovacic is Associate Professor of Pediatrics and Director of Pediatric GI Motility and Cyclic Vomiting Syndrome programs at the Medical College of Wisconsin. She is funded by the NIH through K23 and R03 grants. Her research is focused on investigating brain-gut disorders by characterization of children with functional nausea, gastric motor disturbances and non-invasive neuromodulation therapy.  Her most recent grant investigates brain-gut function in adolescents with hypermobile EDS. She received the 2017 NASPGHAN Balistreri Prize for Excellence in Research, the 2018 International Foundation for Functional GI Disorders Pediatric Scientist award and the 2019 and 2021 NASPGHAN Neurogastroenterology & Cyclic Vomiting Syndrome Abstract Awards. 

Laurie Bilyeu

Laurie is a Registered Dietitian with a Master of Science Degree in Food and Nutrition from Framingham State University, Framingham, MA, USA. She is a member of the Diet and Nutrition Working Group of the Ehlers Danlos Society Consortium.  
She is deeply involved in the connective tissue disease community because her family lives and struggles with it. Connection Nutrition, her private practice for people with EDS is at www.connectionnutrition.org 

Workshop Session I – Microbiota-Gut-Brain-Axis – The Next Frontier in GI Care

Please use the timestamps below to find the session you would like to watch

Microbiota-Gut-Brain-Axis – The Next Frontier in GI Care – Prof. Qasim Aziz – 00:00 – 30:20
Session Q&A – 30:20-48:49
The Role of Nutrition: Supporting the Microbiota-Gut-Brain Axis in Ehlers-Danlos syndrome – Lorna Ryan – 48:49 – 1:14:03
Session Q&A – 1:14:03 – 1:54:51

Workshop Session II – Optimizing the Diagnosis of GI Disorders

Please use the timestamps below to find the session you would like to watch

Making the Correct Diagnosis – Ending the Vicious Cycle of the Functional Disorder Diagnosis – Dr. Gisela Chelimsky – 00:00 – 32:06
Q&A Session – 32:06 – 55:21
Nutrition is Not A One Page Handout – Bonnie Nasar – 55:21 – 1:22:43
Q&A Session – 1:22:43 – 1:44:54

Workshop Session III – Optimizing Therapeutics for GI Disorders

Please use the timestamps below to find the session you would like to watch

Leveraging Therapeutic Targets For More Effective Treatment of Gastrointestinal Disorders in the Ehlers-Danlos Syndromes – Dr. Katja Kovacic – 00:00 – 28:08
Session Q&A – 28:08-48:07
Optimizing Nutritional Therapeutics: Supporting GI Disorders in the Ehlers-Danlos Syndromes – Laurie Bilyeu – 48:07 – 1:09:30
Session Q&A – 1:09:30 – 1:31:50

Workshop Presenters

isabelle_brock_300

Dr. Isabelle Brock

Dr. Isabelle Brock has dedicated her professional career to the research and understanding of connective tissue issues, aiming to improve the quality of life and provide access to care for her clients.  
Dr. Brock employs both Eastern and Western Medicine in her understanding of the body. As the President of QoLify and The Dubois Institute For Connective Tissue Issues Dr. Brock has co-founded Clinical Paradigms for seeing EDS patients regularly.  

She is a visiting scientist at Indiana University in the Department of Medical & Molecular Genetics, and the Health Center for Ehlers-Danlos Syndromes. As the Program Director for Centers and Networks of Excellence for The Ehlers-Danlos Society, she aims to establish networks around the globe to give patients with EDS better access to care.  
Dr. Brock holds memberships to the Allergy, Immunology & Pain Management Working Groups of the International Consortium on EDS and its Comorbidities. 

Dr. James Kustow

Dr James Kustow is a London-based Consultant Psychiatrist and specialist in adult ADHD, working in one of the very few London-based NHS adult ADHD services, where he has developed the award winning Lifeskills group programme. Dr Kustow also has a private practice in central London, and is the Medical Director of The Grove Practice, an internationally respected mental health training provider.  

Dr Kustow is a recognised national and international speaker on Adult ADHD. He is a member of UKAAN’s Executive board (UKAAN is the main professional organisation for Adult ADHD in the UK) and he is also UKAAN’s Director of Education. He was instrumental in the development of the national training programme for psychiatrists in the UK. He is a co-author of a textbook on Adult ADHD published by Springer Health, and he chaired a team of European experts in the 2018 update of the pharmacotherapy section of the European Consensus Statement on Diagnosis and Treatment of Adult ADHD.  

Over recent years he has developed a particular interest in the overlap between ADHD and hypermobility (and related) disorders. He has spoken on this association at various meetings. He postulates that this characteristic cluster of syndromes may provide vital clues to understanding the physiological underpinnings of ADHD, and other neuropsychiatric presentations.  

Dr. Mariana Castells

Mariana Castells, M.D., Ph.D. is a clinician-scientist with over 30 years of experience in allergy and immunology. Additionally, she is a Professor of Medicine at Harvard Medical School with over 200 publications. She is the Director of the Brigham and Women’s Mastocytosis Center one of the few nationally and internationally recognized centers of excellence which provides diagnosis, management, and treatment options for patients with mastocytosis and mast cell activation disorders, which are rare and potentially deadly disorders currently addressed with Tyrosine Kinase Inhibitors. Additionally, she is the Director of the Drug Hypersensitivity and Desensitization Center at Brigham and Women’s and Dana Farber Cancer Institute which provides over 900 high risk desensitization’s per year for over 20 years to patients with cancer, severe infections and inflammatory diseases who are allergic to their first line therapy, increasing their life expectancy and quality of life.

Dr. Matthew Hamilton

Matthew Hamilton, M.D., specializes in the gastrointestinal manifestations of mast cell disorders. He is the director of translational research and co-director of the inflammatory bowel disease fellowship at the Brigham and Women’s Crohn’s and Colitis Center and an Assistant Professor of Medicine at Harvard Medical School. In the gastroenterology clinic, he specializes in the diagnosis and management of patients with mast cell disorders. Along with the research team at the BWH Mastocytosis Center, he leads several clinical and translational studies to better define mast cell activation syndrome and to identify diagnostic biomarkers. 

Dr. Laura Pace

Founder and CEO of Metrodora Institute – an innovative, multidisciplinary medical institute focused on the care and cure of neuroimmune axis disorders. A leading neurogastroenterologist, board certified from the ABIM in Internal Medicine and Gastroenterology, and from the UCNS in Autonomic Disorders. She has been a leader in the rare disease space for many years has served as a lead for the NIH UDN, Medical Board member for Dysautonomia International and Chair of the Gastrointestinal Working Group for the Ehlers-Danlos Society. Dr. Pace holds a BS in Chemistry from Stony Brook University, an MD and PhD in Neuroscience from the University of Illinois. She has advanced research training in the areas of neuroscience, microbial physiology, evolution and genetics, as well as analytical chemistry studying host-microbe interactions. Additionally, she has advanced clinical training in the physiology, diagnostics, and clinical management of neurogastrointestinal disorders and medical genetics. 

Workshop Session I – Mast Cell Activation Syndrome and EDS/HSD

Please use the timestamps below to find the session you would like to watch

Gastrointestinal and Genitourinary Manifestations of Mast Cell Activation Disease (MCAD) – Dr. Isabelle Brock – 00:00 – 22:55
Session Q&A – 22:55 – 50:30
Mast Cell Activation Disease and Neuropsychiatric Illnesses – Dr. James Kustow – 50:30-1:40:02
Session Q&A – 1:40:02 – 1:49:11
Panel Discussion – 1:49:11 – 2:02:22

Workshop Session II – Mast Cell Activation Syndrome and EDS/HSD

Please use the timestamps below to find the session you would like to watch

Mast Cell Activation: Neuroinflammation and Neuropsychiatric Illness – Dr. Mariana Castells – 00:00-33:05
Q&A Session – 33:05 – 56:15
East-West Approach to EDS and Immune Co-Morbid Illnesses – Allergies, Immunodeficiency, and Autonomic Dysfunction – Dr. Isabelle Brock – 56:15 – 1:31:36
Q&A Session – 1:31:36 – 1:53:16

Workshop Session III – Mast Cell Activation Syndrome and EDS/HSD

Please use the timestamps below to find the session you would like to watch

Hyper Alpha Tryptasemia – One Gene, A Trifecta of Dysfunction: EDS, Dysautonomia, MCAD – Dr. Matthew Hamilton – 00:00 – 33:26
Session Q&A – 33:26-1:01:22
Hosting Frenemies: GI Microbiome in the EDS/MCAD/POTS Patient – Dr. Laura Pace – 1:01:22 – 1:33:05
Session Q&A – 1:33:05 – 1:48:36

Workshop Presenters

Dr. Antonio Bulbena-Vilarrasa

Throughout my professional career mainly clinical, I have carried innovative research, academic and management work and received several academic and research awards and grants. 

I am currently the Chair of the Department of Psychiatry of the Autonomous University of Barcelona and I created several networks of public services including General Hospital, Psychiatric Hospital, community care, inpatient and outpatient adult and child Psychiatry, mobile teams, inpatient and outpatient addiction psychiatry. My main research interest involves the study and understanding of the interface between somatic and mental illness, specifically the relationship between anxiety disorders and joint hypermobility syndrome, which I originally described in 1988 and subsequently studied over the years. I have recently developed a new model of anxiety disorders based on the relationship between the connective tissue and the Autonomic Nervous System. 

Dr. Jessica Eccles

Dr. Jessica Eccles trained in medicine at University of Cambridge and University of Oxford and undertook combined clinical academic training in Liaison Psychiatry at Brighton and Sussex Medical School.   As an MRC Clinical Research Training Fellow she completed her PhD in the relationship between joint hypermobility, autonomic dysfunction and psychiatric symptoms and is now a Clinical Senior Lecturer. Her interests are in the neuropsychiatric manifestations of musculoskeletal conditions, particularly variant connective tissue, including anxiety, ADHD, Autism, ‘brain fog,’ and pain and fatigue.  She holds a number of grants and was awarded a prestigious MQ Arthritis Research UK Fellows Award to conduct a randomised clinical trial of a new targeted treatment for anxiety in hypermobility.  She believes in taking a neurodiversity affirmative approach. 

Dr. Leonardo Zoccante

Child & Adolescent Neuropsychiatrist at the Integrated University Hospital of Verona, Italy, and Coordinator of the Autism Spectrum Disorders Regional Centre.

Dr. Emily Casanova

Dr. Casanova is a neuroscientist with additional training in biomedical science and bioinformatics. Her main area of expertise concerns autism, including overlapping conditions like EDS/HSD and fragile X spectrum disorders. 

Dr. Vincent Guinchat

I am a child psychiatrist, specialized in the management of severe behavioral crises in people with severe autism and intellectual disability.  I worked 11 years in the child psychiatric department of the Pitié Salpetrière hospital in Paris, In 2012, I opened a new inpatient unit, dedicated the most complex developmental situations. Since 2019, I ve been responsible for the mental disability psychiatric service in the  Centre hospitalier universtaire vaudois (CHUV), in Lausanne. In May 2021, I opened there a new unit based on the same model. My main purpose is to promote a therapeutic framework, facilitating deprescribing, multidisciplinary approaches and reduction of coercive measures in this vulnerable population. In this context HSD like clinical presentations had rapidly emerged as an unavoidable clinical problem, requiring specialized resources and adapted procedures. 

Workshop Session I – HSD and Neurodivergence

Bendy Bodies, Bendy Brains: The Relationship Between Neurodiversity and Hypermobility, with Q&A Session – Dr. Jessica Eccles

The Connectivome Theory to Understand Neurodivergence, with Q&A session – Dr. Leonardo Zoccante

Workshop Session II – HSD, EDS, and Psychopathology

Eating Problems in the HSD and hEDS, with Q&A session – Dr. Antonio Bulbena-Vilarrasa

A New Neuroconnective Endophenotype in Medicine and in Psychiatry: The Ehlers-Danlos Contribution, with Q&A session – Dr. Antonio Bulbena-Vilarrasa

Workshop Session III – HSD, EDS, and Autism

Biological Basis of the Connection Between Autism and HSD and EDS & Q&A – Dr. Emily Casanova

Management of Pain and Dysproprioception in People with Autism and HSD and EDS & Q&A – Vincent Guinchat

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