Episode 3: EDS, Medical Research & Neurodivergence

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Episode 3: EDS, Medical Research & Neurodivergence

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In this episode, Cassandra and Marcia speak with Jan Groh, fellow EDSer, advocate, creator of the Oh Twist blog and co-author of the EDS Toolkit. Transcript: https://www.chronicpainpartners.com/episode-3-neurodivergence/ Links to Resources shared in this episode: OH Twist https://ohtwist.com/ X (Twitter) OhTWIST.bsky.social now too (@H2OhTwist) / X FB PUBLIC OH TWIST PAGE about EDS MCAD POTS info | Facebook Patreon Jan Groh OhTWIST author | Patreon ORGS/PROJECTS Ehlers-Danlos Support UK https://www.ehlers-danlos.org/ EDS Toolkit https://gptoolkit.ehlers-danlos.org/ Dr Emma Reinhold X (Twitter) https://x.com/DrEReinhold?t=E2zNEED42vobymTA5fBhWA&s=09 Medical University of South Carolina (MUSC) https://www.musc.edu/ The Ehlers Danlos Society (TEDS) https://www.ehlers-danlos.com/ HEDGE study https://www.ehlers-danlos.com/the-hedge-study/ Norris Lab https://www.thenorrislab.com/ Kallikrein Gene Study https://www.eds.clinic/articles/norris-lab-researchers-discover-hypermobile-eds-gene Dr Byers University of Washington https://www.uwmedicine.org/bios/peter-byers Mast Cell Diseases Society (TMS) tmsforacure.org Professor Rodney Grahame Prof R Graham London Hypermobility Unit The London Hypermobility Unit Royal National Orthopaedic Hospital (Stanmore) Home :: Royal National Orthopaedic Hospital Dr Jessica Eccles https://www.bsms.ac.uk/about/contact-us/staff/dr-jessica-eccles.aspx https://youtu.be/TIFM0aa5Mxs?si=po6Gc6qX9AO9rHEU EDS Echo project https://www.ehlers-danlos.com/echo/ Road to 2026 https://www.ehlers-danlos.com/road-to-2026 MEDICAL REFERENCES Polygenic Relating to or determined by polygenes.: "the theory of polygenic inheritance". Classical EDS A genetic connective tissue disorder characterised by skin hyperextensibility, atrophic scarring, and generalised joint hypermobility. Vascular EDS Vascular Ehlers-Danlos Syndrome (vEDS) is a rare genetic disorder characterised by fragile blood vessels and connective tissues, leading to a high risk of life-threatening complications. Osteoarthritis Degeneration of joint cartilage and the underlying bone, most common from middle age onward. It causes pain and stiffness, especially in the hip, knee, and thumb joints. Rheumatoid Arthritis A chronic autoimmune disease where the immune system mistakenly attacks the joint lining (synovium), causing painful inflammation, stiffness, and swelling, typically in hands and feet, potentially damaging bone, cartilage, and tendons, leading to deformity. Marfan Syndrome Marfan syndrome is a genetic condition that affects the body's connective tissue. Connective tissue holds all the body's cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. Osteogenesis Imperfecta Commonly known as brittle bone disease, is a group of genetic disorders characterised by bones that break easily, often from mild trauma or without any apparent cause. Arthrochalasia Ehlers-Danlos syndrome (aEDS) A heritable connective tissue disorder that causes congenital bilateral hip dislocation, generalised joint hypermobility, and joint instability. aEDS is an ultra-rare disorder that affects less than 1 in 1 million people. Autosomal-recessive The inheritance pattern for a given type of rare EDS. Assay A laboratory procedure used to qualitatively assess or quantitatively measure the presence, amount, or functional activity of a target entity (analyte) such as a protein, hormone, drug, or antibody. They are essential for diagnosing diseases, monitoring treatment effectiveness, or determining drug potency. Mast Cell Disease/Mast Cell Activation Syndrome (MCAS)/Mastocytosis Rare disorders where too many mast cells build up or become overactive, releasing excessive immune chemicals (mediators) that cause widespread symptoms like flushing, itching, hives, diarrhea, abdominal pain, headaches, and potentially life-threatening anaphylaxis, affecting skin, gut, bones, and brain due to chronic allergic-like responses. Neurodiversity Neurodiversity is an umbrella term used to describe natural differences in how individuals' brains' think and process information. The Trifecta (EDS/HSD + Mast Cell Activation + Dysautonomia) A complex cluster of chronic symptoms affecting connective tissues, immune response, and the autonomic nervous system, impacting heart rate, blood pressure, digestion, and energy. Innervation The distribution, supply, or stimulation of nerves to a specific body part, organ, or muscle, allowing it to function and receive sensory input. It defines the nerve network connection that controls actions like muscle contraction or glandular secretion through neuromuscular junctions. Familial Dysautonomia (Riley-Day syndrome or hereditary sensory and autonomic neuropathy type III (HSAN III). A rare, progressive, autosomal recessive genetic disorder that primarily affects the development and survival of sensory, sympathetic, and some ...

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