Episode 3: EDS, Medical Research & Neurodivergence

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 parasympathetic neurons in the autonomic and sensory nervous systems.)

Multiple Sclerosis (MS) 

A chronic autoimmune disease affecting the central nervous system (brain, spinal cord, optic nerves) where the immune system damages myelin (nerve sheaths), disrupting nerve signals and causing varied symptoms like vision problems, weakness, balance issues, and fatigue. "Multiple" refers to the many lesions/scars (sclerosis) that can form, and it's a lifelong condition with no cure, though treatments help manage it.  

Lupus 

A chronic autoimmune disease where the immune system mistakenly attacks healthy tissues and organs, causing inflammation and damage, often leading to fatigue, joint pain, skin rashes (like the butterfly rash on the face), fever, and potential issues with kidneys, heart, lungs, and blood.

Sjögren's Syndrome (or disease) 

A chronic autoimmune disorder where the immune system attacks moisture-producing glands, primarily causing severe dry eyes (xerophthalmia) and dry mouth (xerostomia), but can also affect other organs, leading to fatigue, joint pain, and potential damage to lungs, kidneys, or nerves. It often occurs with other autoimmune diseases and is far more common in women, typically starting in middle age, with treatments focusing on symptom relief as there's no cure.  

Rheumatoid Arthritis (RA)

A chronic autoimmune disease causing pain, swelling, and stiffness, primarily in the joints, where the immune system mistakenly attacks the body's own tissues, leading to inflammation and potential damage. It's a long-term condition that can affect many joints, especially in the hands, wrists, and feet, and may also cause systemic symptoms like fatigue.  

Autism Spectrum Disorder (ASD) 

A lifelong developmental condition affecting social communication, interaction, and behaviour, characterised by a spectrum of traits and support needs.

Stims/Stimming (self-stimulatory behavior) 

In autism it refers to repetitive movements, sounds, or actions (like hand-flapping, rocking, humming, or fiddling with objects) that help individuals self-regulate emotions, manage sensory input, focus attention, or express feelings, acting as a natural coping mechanism for stress, anxiety, or excitement, and is generally beneficial rather than problematic, though some forms can be harmful. Everyone stims (nail-biting, hair twirling), but it's a core trait in autism, helping people process an often overwhelming sensory world and providing comfort and predictability.

Cortisol

A steroid hormone that your adrenal glands (the glands on top of your kidneys) make. Cortisol affects several aspects of your health and helps regulate your body’s response to stress.

Common Variable Immunodeficiency (CVID) The most common symptomatic primary immunodeficiency in adults, characterised by impaired antibody production due to defects in B cell differentiation and function, leading to low levels of immunoglobulins (IgG, IgA, and often IgM) and poor or absent specific antibody responses to infections or immunisations.