ECHO Summit Series: Classical Ehlers-Danlos Syndrome – Community Day

Watch the recordings from Community Day of our EDS ECHO Summit Series: Classical Ehlers-Danlos Syndrome event

Welcome to Session 1 – Dr. Nigel Burrows

Dr. Nigel Burrows is a Consultant Dermatologist at Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, UK. He is a past President of the British Society for Paediatric Dermatology. He has been interested in Ehlers-Danlos Syndromes since the mid -1990s when he undertook his MD thesis on ‘The Molecular Genetics of Ehlers-Danlos Syndrome Types I and II’ (Classical). He is actively involved in the management of patients with EDS and in clinical research. In addition to peer-reviewed publications on EDS he has written several book chapters on inherited disorders of connective tissue, as well as lecturing on many courses on EDS. He is on the medical advisory board for two UK EDS patient support groups. 

Dermatological Concerns – Dr. Nigel Burrows

Dr. Nigel Burrows is a Consultant Dermatologist at Addenbrooke’s Hospital, Cambridge University Hospitals NHS Foundation Trust, UK. He is a past President of the British Society for Paediatric Dermatology. He has been interested in Ehlers-Danlos Syndromes since the mid -1990s when he undertook his MD thesis on ‘The Molecular Genetics of Ehlers-Danlos Syndrome Types I and II’ (Classical). He is actively involved in the management of patients with EDS and in clinical research. In addition to peer-reviewed publications on EDS he has written several book chapters on inherited disorders of connective tissue, as well as lecturing on many courses on EDS. He is on the medical advisory board for two UK EDS patient support groups. 

Cardiovascular Disease – Dr. Amy Kontorovich

Dr. Kontorovich is Director of the Center for Inherited Cardiovascular Diseases and Assistant Professor of Medicine in Cardiology at the Icahn School of Medicine at Mount Sinai in New York City. Dr. Kontorovich’s clinical practice is focused on the diagnosis and management of individuals with hereditary cardiovascular conditions including cardiomyopathies, vascular connective tissue disorders and aortopathies, channelopathies, dyslipidemias and sudden cardiac death. Dr. Kontorovich received a Bachelors of Science and Engineering in Bioengineering from the University of Pennsylvania and an MD/PhD from Stony Brook University. After completing residency and cardiology fellowship training at Mount Sinai, Dr. Kontorovich joined the faculty to form the Adult Cardiovascular Genetics Clinic at Mount Sinai. Dr. Kontorovich is a cardiologist with expertise in the research and clinical domains of heritable cardiovascular disorders. 

Community Voices – Alyssa Graybeal

Alyssa Graybeal is a writer and cartoonist who has both classical Ehlers-Danlos Syndrome and Marfan Syndrome. Her first memoir, Floppy: Tales of a Genetic Freak of Nature at the End of the World, won the 2020 Red Hen Press Nonfiction Book Award and will be released in spring 2023. She lives in Astoria, Oregon. You can find out more about her work at www.alyssagraybeal.com. 

Clinical Management: Part One Q&A Session

Welcome to Session 2 – Dr. Katja Kovacic

Katja Kovacic, MD, is an Associate Professor of Pediatric Gastroenterology at Medical College of Wisconsin. She is originally from Finland and received her MD degree from Dartmouth-Brown Medical School. She completed her residency at Brown Medical School, Rhode Island, and her fellowship in pediatric gastroenterology at Medical College of Wisconsin. She is the director of the Motility and Cyclic Vomiting Syndrome Programs at Children’s Hospital of Wisconsin where she specializes in functional gastrointestinal and motility disorders. 

Dr. Kovacic has published numerous articles relating to pediatric functional gastrointestinal disorders including the association with joint hypermobility. She has a strong interest in neuromodulation and is working on developing novel non-invasive neurostimulation therapies for functional gastrointestinal disorders. Her work demonstrating efficacy and safety of auricular neurostimulation for pain-associated functional gastrointestinal disorders was published in The Lancet Gastroenterology and Hepatology. She is working on evaluating different forms of non-invasive neuromodulation therapies in patients with hypermobile EDS as well as detailed characterization of children with EDS. 

Gastroenterological Disease – Dr. Katja Kovacic

Katja Kovacic, MD, is an Associate Professor of Pediatric Gastroenterology at Medical College of Wisconsin. She is originally from Finland and received her MD degree from Dartmouth-Brown Medical School. She completed her residency at Brown Medical School, Rhode Island, and her fellowship in pediatric gastroenterology at Medical College of Wisconsin. She is the director of the Motility and Cyclic Vomiting Syndrome Programs at Children’s Hospital of Wisconsin where she specializes in functional gastrointestinal and motility disorders. 

Dr. Kovacic has published numerous articles relating to pediatric functional gastrointestinal disorders including the association with joint hypermobility. She has a strong interest in neuromodulation and is working on developing novel non-invasive neurostimulation therapies for functional gastrointestinal disorders. Her work demonstrating efficacy and safety of auricular neurostimulation for pain-associated functional gastrointestinal disorders was published in The Lancet Gastroenterology and Hepatology. She is working on evaluating different forms of non-invasive neuromodulation therapies in patients with hypermobile EDS as well as detailed characterization of children with EDS. 

Ocular Concerns – Dr. Alex V. Levin

After a pediatric residency at the Children’s Hospital of Philadelphia, an ophthalmology residency at Wills Eye Hospital in Philadelphia, and a pediatric ophthalmology fellowship at The Hospital for Sick Children in Toronto, Dr. Alex Levin became Professor in the Departments of Pediatrics, Genetics and Ophthalmology and Vision Sciences at the University of Toronto. There he started the Ocular Genetics Program in 1995.  In 2008 he returned to Wills as the Chief of Pediatric Ophthalmology and Ocular Genetics. There he established a new Ocular Genetics program. He serves on the Executive Committee of the International Society of Genetic Eye Disease and Retinoblastoma (ISGEDR) and is a frequent lecturer and contributor to the medical literature on ocular genetics. He is now Chief of Pediatric Ophthalmology and Ocular Genetics at Flaum Eye Institute and Chief of Pediatric Genetics at Galisano Children’s Hospital at the University of Rochester, New York. 

Community Voices – Tiffany Vincent

Tiffany Vincent was diagnosed with classical and hypermobile Ehlers-Danlos syndrome at five years old. Most of her symptoms related to EDS are musculoskeletal, cardiac, and dermatologic in nature. She is grateful for an early diagnosis which help to provide a better quality of life and she advocates the same for others. The trials and tribulations associated with EDS lead to surrounding Tiffany with an amazing medical team who inspired her interest in medicine from a young age. She graduated Louisiana State University with a bachelors in biologic science and obtained a masters from Our Lady of the Lake College in medical science. She is a physician assistant currently practicing in ENT, head and neck surgery. She has undergone several orthopedic surgeries due to complications related to EDS, the largest interventions including bilateral ankle fusions at age 24 and bilateral hip replacements at age 34. She applies her experiences as a patient to practicing medicine and can empathize with patients to provide optimal care. When she is not in clinic or the operating room Tiffany enjoys spending time with her husband, Blake Vincent, their two yorkies, family and friends. Her hobbies include weight training, painting, fishing, and hiking. 

Clinical Management: Part Two Q&A Session

Welcome to Session 3 – Dr. Helen Cohen

Dr Cohen is a Consultant in Rheumatology and Chronic Pain at the Royal National Orthopaedic Hospital, Stanmore, U.K. Dr Cohen graduated from the University of Wales College of Medicine, and completed her PhD at the Royal National Hospital for Rheumatic Diseases, Bath supported by an Arthritis Research UK Clinical Fellowship. 

She has a special interest in the management and treatment of chronic pain, and specifically in joint hypermobility / Ehlers-Danlos syndrome (EDS), and Complex Regional Pain Syndrome (CRPS). She leads the CRPS and hypermobility rehabilitation programmes at Stanmore and works closely with orthopaedic colleagues and allied health professionals.  

One of Dr Cohen’s main research interests is in understanding how brain mechanisms contribute to severe chronic pain syndromes. Her clinical interests include general rheumatology, hypermobility, fibromyalgia and CRPS among other chronic, difficult-to-explain pain syndromes. 

Pain Management – Dr. Helen Cohen

Dr Cohen is a Consultant in Rheumatology and Chronic Pain at the Royal National Orthopaedic Hospital, Stanmore, U.K. Dr Cohen graduated from the University of Wales College of Medicine, and completed her PhD at the Royal National Hospital for Rheumatic Diseases, Bath supported by an Arthritis Research UK Clinical Fellowship. 

She has a special interest in the management and treatment of chronic pain, and specifically in joint hypermobility / Ehlers-Danlos syndrome (EDS), and Complex Regional Pain Syndrome (CRPS). She leads the CRPS and hypermobility rehabilitation programmes at Stanmore and works closely with orthopaedic colleagues and allied health professionals. 

 
One of Dr Cohen’s main research interests is in understanding how brain mechanisms contribute to severe chronic pain syndromes. Her clinical interests include general rheumatology, hypermobility, fibromyalgia and CRPS among other chronic, difficult-to-explain pain syndromes. 

Physical Therapies – Dr. Michael Healy

Dr. Michael P. Healy is the Owner/President & CEO of Healy Physical Therapy & Sports Medicine. His practice, located in the state of Rhode Island (USA), opened in 2003. Dr. Healy specializes in advanced manual therapy, with a personal interest in treating patients diagnosed with rare connective tissue disorders such as Ehlers-Danlos Syndrome. 
 
In 1986, Dr. Healy graduated from the University of New England with a Bachelor of Science in Physical Therapy. He then continued his education and graduated from Bryant University with an MBA in Business in 1997. After opening Healy Physical Therapy & Sports Medicine, Dr. Healy furthered his education. In 2008, he received a Diplomate in Osteopathic Manipulative Theory & Practice, (DOMTP) from The Osteopathic College of Ontario. In 2012, he graduated with his Doctorate of Physical Therapy, from Simmons College. Dr. Healy is also certified as an Integrated Osteopathic Manual Therapist, personal trainer, and sports nutritionist. 

Clinical Management: Part Three Q&A Session

Welcome to Session 4 – Jessica Bowen

Jess is a Registered Genetic Counsellor in the UK, with a dual role working in Sheffield Clinical Genetics department and the Ehlers Danlos Syndromes (EDS) Highly Specialised service.  Jess has been with the EDS service since its foundation in 2009 and has enjoyed specialising in the rare types of EDS. She is a member of the EDS International Consortium and worked on the 2017 classification papers, being first author on the classical EDS paper. 

Genetic Counselling – Jessica Bowen

Jess is a Registered Genetic Counsellor in the UK, with a dual role working in Sheffield Clinical Genetics department and the Ehlers Danlos Syndromes (EDS) Highly Specialised service.  Jess has been with the EDS service since its foundation in 2009 and has enjoyed specialising in the rare types of EDS. She is a member of the EDS International Consortium and worked on the 2017 classification papers, being first author on the classical EDS paper. 

Pregnancy in cEDS – Dr. Natalie Blagowidow

Dr. Blagowidow received her MD degree from Cornell University Medical College, NY. Her residency training was in the Department of Obstetrics and Gynecology at the Hospital of the University of Pennsylvania, Philadelphia, PA. Dr. Blagowidow pursued specialty training as a Fellow in Reproductive Genetics and Human Genetics, Department of Obstetrics and Gynecology, Hospital of the University of Pennsylvania, and in the Division of Human Genetics at The Children’s Hospital of Philadelphia. 

Dr. Blagowidow is board-certified in both clinical genetics and clinical cytogenetics. She is also a Founding Fellow of the American College of Medical Genetics. Dr. Blagowidow’s clinical specialties include assessment of pregnancy by ultrasound including Doppler flow and 3D imaging and by invasive testing including CVS and amniocentesis. 

Clinical Management: Part Four Q&A Session

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