Author: Kate Horowitz
IMAGE CREDIT: ISTOCK
On a good day, my shoulders, knees, and hips will dislocate two to five times apiece. The slightest bump into a table or door will bloom new bruises on my arms and legs or tear a gash in the thin skin on my hands. My blood pressure will plummet each time I stand, making me feel woozy, nauseated, and weak. I’ll have trouble focusing and remembering words. I’ll run my errands from underneath an umbrella to prevent an allergic reaction to the Sun.
I have Ehlers-Danlos Syndrome (EDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS)—a trifecta of weird diseases. POTS, EDS, and MCAS are so obscure that many doctors have never even heard of them. But a study published today in Nature Genetics might help change that: Researchers have found a genetic mutation that links all three conditions.
There are at least six types of EDS, all caused by defective connective tissue. I’ve got the most common form, Hypermobility Type (EDS-HT), also known as EDS-III. EDS-HT is considered the most “benign” form—that is, it’s generally not fatal—but the chronic pain, injuries, and other symptoms it causes can easily take over a person’s life.
POTS is a form of dysautonomia, or dysfunction of the autonomic nervous system (ANS). The ANS manages all the things your body does without thinking, from breathing and pumping blood to digesting food. My POTS is pretty mild; at the moment, the hardest parts are the fatigue and the cognitive issues caused by decreased blood flow to my brain. Other people are not so lucky and may need feeding tubes or constant bed rest.
MCAS, also called Mast Cell Activation Disease, is the newest and potentially the trickiest of the three. Mast cells are generally heroes in the body, helping keep the immune system alert and responsive. But some people have paranoid mast cells that can perceive just about anything (foods, medications, temperatures, deep breathing) as a threat. And when they go off, there’s no telling what will happen; researchers have implicated mast cell activation issues in dozens of symptoms and conditions, from anaphylactic shock to irritable bowel syndrome as well as dysautonomia and connective tissue problems.
People who have EDS-HT often also have POTS or MCAS or both, yet the relationshipsbetween the three remain murky. Some scientists think EDS causes POTS. Others think MCAS causes POTS and EDS. But we don’t really know, because there’s been barely any research on any of them. It’s hard to study conditions that look different in every patient (I’ve never met anyone else with one of these conditions who has a sunlight allergy) and have few, if any, quantifiable symptoms. Another reason for the lack of scientific interest? All three conditions are far more common in women, a trait long associated with meager research funding and minimal medical concern.
Consequently, there are no FDA-approved tests for these diseases, and there are certainly no cures. People with EDS-HT wear joint braces to reduce dislocations and are taught to manage their pain. People with POTS are prescribed beta blockers, high-sodium diets, and compression gear to keep up their blood pressure. People with MCAS are given antihistamines.
EDS-HT is typically passed from parent to child, and scientists have found genetic markers for other types of EDS, so it’s not unreasonable to think that it could be caused by mutated DNA.
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Today is my 60th Birthday. It has taken 50 years to get a diagnosis of EDS. The various medics I have seen have misdiagnosed me throughout my life, to my cost. I went on to anti histamines myself. I have been ridiculed, humiliated and ignored for decades, and still can’t get to see a specialist. I live in Wales U.K. I have no faith in medics, I am invisible. No support, branded a “very anxious (silly) woman”. Thank you for your info on EDS.
I turned 46 this year. My experience with almost all people I have seen about my health has also been so damaging I have medical PTSD. It doesn’t help that I have the trifecta discussed above and my Dysautanomia is complicated by adrenal insufficiency. Beyond the awful symptoms of that, I had severe anxiety from rushes of adrenaline in stressful situations no matter how mild, but especially when seeing a new doctor. I was sent off the edge of distrust and fear when I (by chance) landed in a new cardiologist’s office who had me go straight to the ER where I was transferred to ICU for actute heart and kidney failure from malnutrition due to severe constipation and gastroparesis. My muscles were wasting and I was expelling the cells through my urine, an emergency called Rhabdomylosis. My heart was having deadly arrhythmias called Torsade de Points which had been causing convulsions when I would stand up and take a couple of steps. I thought it was from POTS. It was little near cardiac arrests that I was lucky didn’t kill me within the few months I was having them. They told me and my family I probably wouldn’t live through the night. All of my blood work was off. My pulse was in the 30s and 40s and my blood sugar was 38 (I’m in the US, I know it’s measured differently in EU). That was a year and a half ago and it was all due to 5 years of being disbelieved, shrugged or passed off, ignored even when I told them I hadn’t had a bowel moment in 9 weeks. My medical PTSD started before that happened because I was made to feel guilty like I was wasting their time. I can count on one hand how many of them had even heard of EDS, POTS, or MCAS. But the still felt they knew more than me enough to rule things in or out with zero testing or referral to specialists unless I asked for it. Their impatience with me made me a defensive and impatient totally distrusting patient. I have such anxiety I struggle to even call the doctor to set an appointment and I cancel or reschedule my appointments more times than not. It took my narcolepsy diagnosis and the FB support group to tell me my symptoms sounded like EDS and I argued with them for a few years before I was diagnosed by a rheumatologist I went to fo my rheumatoid arthritis I had been diagnosed with through blood tests for 10 years. But my test was negative which I didn’t understand, I was having false positives for a few years. I asked about EDS and was given Beighton Scale tests which were 8 out of 9 and the new criteria solidified it later. I wasn’t diagnosed until I was 36. I started growing this pregnant belly that was absolutely huge and still hasn’t been properly diagnosed. As young as 5 or 6 my eye doctor asked my mom if she could track down my birth parents to find out if any genetic disorders were in my family history. My eyes were not working together, both were lazy and I wore a patch for a while which didn’t work. I had zero depth perception. All of that has gotten worse. Anyway, once my belly began to grow I started piling on symptoms and I haven’t bounced back to any realistic baseline since I was in the ICU. I have to use a wheelchair with wheel assist, and I rarely leave my bed or home now. This mixture of illnesses coming from EDS can cost a person everything. It almost has for me. I’ve been fighting to get disability for 6 years with a lawyer. What the woman in the first comment said about women being under the umbrella of “,the hysterical woman” or it being all in our heads is dead on. Sadly women are more likely to have EDS than men. I can’t tell you how many times I was pushed to use antidepressants that only caused paradoxical reactions from and I’m a rapid metabolizer with malabsorption. A poor in my chest for daily IV fluids and a PICC line because my port stitch pulled through the tissue on one side so it’s really hard to access. Oh, and with as many doctors who haven’t even heard of EDS that I run into all the time, it sure is odd how many doctors feel qualified to diagnose or rule out this illness. Pretty odd and awfully egomaniacal. I was a nurse for 12 years. I knew it was bad on the medical side but it is far worse on the patient side with very few options to get help.
Please consider contacting the UK EDS Support group:
https://www.ehlers-danlos.com/support-groups-uk/
I, too, need to be completely covered MOST days if out in direct sun, though even indirect can sometimes bother me. I wear hip and wrist braces as these are my most vulnerable parts, and since I do alot of stuff in the yard, when I can, I am very conscious of HOW I do it so as not to dislocate shoulders, roll ankles or piss off knees. My Sun issue not consistent in severity, though! I get sick, swell up, get REALLY stupid (brain fog) and have to sleep for a day or two. I am newly diagnosed with EDS, so am learning all kinds of ways to chill and not push. I was told I was a hypochondriac, and 2 doctors, in jest, told me I was weird. “shrug” We do what we do until we are given more tools, then we learn more and find more tools. I am grateful to have been diagnosed after 50 years of living with hip dislocations, shoulders dislocating, ribs moving around, gut issues and so on. And never anything wrong. Thank you for this article.
You are not alone! I am 62, and have been trying to get a diagnosis for 40 years! It wasn’t until my son started fainting and having severe pain that settled into a more chronic pain, that I realized our problem might be genetic. I have been waiting 3 months for our genetic testing. I believe we have the trifecta diseases! I paid out of pocket for the DNA testing instead of trying to convince doctors! Expensive, but totally worth it if I get answers. I have had the same frustrating experiences that you have. I wish you well. I know how bAd it can be.
It’s been over a year since your post. I hope you’ve been able to get much needed answers by now. I have such empathy for you. My story is the same. I was diagnosed at 55. It look a lifetime. I had signs & symptoms since birth. I live in the US. They told me at Mayo, there oldest person diagnosed was in their 70’s. Unfortunately we know from personal experiences, it doesn’t matter where you live. Much more education is needed for all the medical community. As a nurse, I’d never heard of EDS, until 41 days before my own diagnosis. I was able to put all the puzzle pieces together. I was diagnosed 12/2020. Numerous doctors, considered to be the best-of-the-best, all across the country failed me. They were unable to figure it out. I got all my research together. Presented it to my primary doctor. I got referred to a geneticist. It’s amazing when you have the RIGHT drs, with knowledge, how fast things can be done. All the light bulbs went off for me, and everything started making sense. All of the crazy things that happened, which I thought were normal, were finally explained. I’ve been misdiagnosed too many times to count. I’m so sorry you’ve had the experiences what you have. I know how difficult, aggrevating, and frustrating it is. I don’t know what your health care system is like . I’m sure I was fortunate to get into the geneticist as fast as I did. It took me a little longer to figure out the whole picture. A year after hEDS diagnosis, I know now EDS & MCAS have been the cause of a lifetime of all my medical problems. In my advanced state, I had to quit working 6 years ago. The geneticist said to expect pain 5/10, on a good day, and 8-10/10, on most days. With an earlier diagnosis, several things could have been much better. Now I’m trying to advocate for several family members affected, and anyone else with the possibility of EDS. Please update me on your status.
I also have the sunlight allergic reaction, and another of my friends who also has MCAS, EDS and POTS has the sunlight reaction as well. You definitely aren’t alone there! 🙁
I have all 3 and was diagnosed at age 37 afer suffering years. I wrote a book of my story. It’s on Amazon. Learn all you can!
Hello My Name is Theresa , I have been sick as long as I can remember. Its constantly something.. My friends and family started talking behind my back about me being one who seeks for attention. I wish one would walk a day in my shoes. I have EDS POTS and MCAS. the later just being diagnosed. I am almost 60. Some of these medical issues were hidden from me. Which made me more anxious and ” paranoid” Which got charted as a separate problem… One problem always built on another… And to get medical help with that in your chart– you might as well forget it… Then comes to all our physical problems which most are so weird they get written off too… Frustration builds. I am with you all. Much Love
I too have allergic reaction to the sun! Everyone ridicules me including my husband. Finally, someone who confirmed I’m not hallucinating… Thank you.
Hello –
Ms. Horowitz you explained these confounding conditions very well.
Definitely not alone — over 20 million folks in the USA alone and about 100 million worldwide suffering and newly disabled from a combination of EDS, MCAS, and/or POTS conditions as they often develop in post COVID-19 patients. I’m a research scientist and advocate for Long COVID survivors. Many with Long COVID develop or exacerbate preexisting EDS POTS and MCAS — if they have any genetic tendency towards these condition it becomes activated during the progression of the post viral condition. We’ve had success in managing symptoms using alternative functional medicine, working with integrative rheumatologists along with traditional medicine in other disciplines. We focus on optimizing gut health to support the gut brain immune axis and following an immune supportive diet, with nutritional supplements and lifestyle to reduce inflammation appears to help mitigate symptoms and improve wellbeing.
Please continue the conversation and share your experience with us — follow us. Long COVID Association is USA based, IRS 501(c)3 nonprofit scientific research, education, health equity and advocacy for the recovery of all Long COVID survivors and benefit the public.
Kind regards,
Amira a. Saleh, MS
#LONGCOVIDASSOCIATION
#longcovidawareness #longcovid #longcovidhelpline #scientificresearch #recovery
I also have a sunlight allergy and am currently in the process of being diagnosed with HEDS but after figuring out the POTS first but mostly because I was just. Fainting very often. So they did vitamin panel I was completely depleted in almost everything due to malabsorption, after that and years of chronic panic I finally researched enough to show up to dr’s office with proof and list of demands (symptoms) basically
I’ve had many issues with doctors. By the time I can get them to act on my behalf, I’m already trying to treat myself. Particularly with pots, I have started hypnotherapy. Drastically curbing my ibs symptoms and bp/hr dips and rises. So my first set of bp monitoring numbers only ranged in 20pt increments. Still pots but getting it under control. With tachycardia, cold showers do the trick. My shoulders are the “double jointed “ area. I don’t have too many hiccups there but my daughter has an inverted stance with it in her knees. Scoliosis is a thing I’ve heard, and diagnosed many years ago. Still working on my diagnosis’s as food is starting to not be such a huge impact since retraining the brain. I will add that my symptoms started after my bout with Covid.
i also have a sunlight allergy
Guys! I also have the trifecta and I want to let y’all know that you should get tested for a mutation in the MTHFR gene it is one of the markers found in me and many other people with connective tissue disorders. I suggest you research it and get tested -I’ve started to take the right folate and I’m getting a lot better! Also Nopal is a supplement that completely stops my POTS and joint pain. Nothing yet to help my MCA though. Hope that helps!