Life Update: My diagnosis with hypermobile Ehlers-Danlos Syndrome (hEDS)

I have struggled a lot with how to even begin this post or introduction, though the title, for myself, and most people that have received this diagnosis can attest, is what you might call a loaded gun.

What is hEDS (hypermobile Ehlers-Danlos syndrome)?

It is not a disease, bit rather a disorder; specifically a connective tissue disorder. But beyond that, to be honest, I’m still figuring it out myself. What I do know now, are the many, many ways this diagnosis has validated a lifelong search for answers and diagnoses that did not seem to make any sense.

To give a little background, what ultimately landed me with this diagnosis was a visit to an EDS specialist, who also personally lives with this disorder. But let me back up further…

I had been in a horrific auto collision at the end of 2019. One that should absolutely have taken my life. I remember everything in disturbing, excruciating detail – the other driver failed to yield at an intersection that converged with high speed traffic – in her giant SUV, coming at me head-on, I was left with nowhere to turn to avoid oncoming traffic.

Closing my eyes, I knew in that moment I was going to die. I still remember the sound of our vehicles colliding – the metal scraping and peeling – and then, everything suddenly went white.

Miraculously, and to my eternal gratitude, I woke up after what I have been told was most likely less than 10 minutes, but definitely over 5.

I suffered a traumatic brain injury that I have been extensively trying to heal for the last 4 years, with again, somewhat miraculous results with the assistance of an incredible, understanding and sympathetic pain specialist and neurologist, which was the silver lining in a process filled with gaslighting from almost every other medical professional I encountered. This same doctor has helped me over the last 4 years try to manage my chronic pain.

Aside from the obvious severity of the collision, most people (especially younger ones close to my age) experience dramatic soft tissue recovery and healing within 6 months to a year, and, well… I was not.

Dead end after dead end led my doctor to pursue a hunch, and walk me through a series of physical tests and examinations, which I would find out, were to follow his hypothesis that I had something deeper going on which had not yet been considered: a connective tissue disorder, known as Ehlers-Danlos syndrome.

From his conclusions on his own test, he determined that he was certain, but nonetheless wanted me to get a definitive and official diagnosis from a doctor that specializes in EDS and other hypermobility disorders, and from there, I was referred out to a different clinic, where I met my EDS doctor.

Within the span of about 10 minutes, she had assessed and asserted that I did indeed have Ehlers-Danlos (she informed me that you only need 5 out of 12 markers for a positive diagnosis, but I had 9 of those 12), specifically, hypermobile Ehlers-Danlos syndrome, or hEDS.

What does all of this mean for me? Well, immediately, it meant that I was not going to heal properly from injuries, especially severe ones.

The excruciating neck, back, shoulder, arm and leg pain was directly related to hyperextended joints, ligaments, and abnormal scar tissue formation, as people with EDS generally have issues forming healthy scar tissue, as it is a connective tissue disorder.

My variant meant that I am exceptionally flexible in all of my joints and ligaments – something I was proud of for most of my life, because I had little problem training myself to do the splits in a narrow window of time, nor other various stretches and yoga poses that took many other people months or years to achieve – but it was not a blessing, but rather a bit of a curse.

As this is an ongoing process of discovery for me, I wanted to talk about this diagnosis specifically, because I have lived my entire life (and am in my 30s) without even slightly suspecting that I had hEDS (or any form of genetic disorder for that matter), yet there were so many telltale symptoms that it has been incredibly illuminating, and in a way, viscerally validating.

It’s a personal awakening as sorts, and it has led me to believe that I need to speak of this, and speak of it often, to raise awareness – I had no idea that this was contributing to my silent, private battle with health issues – but if it by my speaking of it, it could help even one person look the right direction and get the correct diagnosis, to me it would be more than worth it.

I have decided to compile a list of symptoms I have had over the span of my life, and if you have one or more of these, I strongly urge you to have your doctor assess if you could be living with EDS.

EDS is a group of heritable connective tissue disorders that primarily impact collagen production or its structure, which is the main protein that supports skin, joints, blood vessels, and other organs. The condition can lead to a wide array of symptoms, but most of them come down to issues with tissue fragility. There are many types of EDS, but some common clinical features show up across the board.

1. Joint Hypermobility:
   • This is a hallmark symptom, especially in hypermobile EDS (hEDS). The joints have an excessive range of motion because the connective tissues, like ligaments, are too elastic. What people don’t realize is that this extra flexibility can make the joints unstable, which leads to frequent dislocations or subluxations (partial dislocations). Over time, this instability often causes chronic pain, and people can develop early-onset osteoarthritis due to the joint cartilage wearing down faster.
2. Chronic Joint and Muscle Pain:
   • Many people with EDS live with chronic pain, which is a result of joint instability and the overuse of surrounding muscles trying to stabilize the joints. The pain can be widespread and is often felt as musculoskeletal pain similar to fibromyalgia. Over time, the body develops chronic fatigue from constantly compensating for joint issues, and that fatigue becomes debilitating.
3. Skin Hyperextensibility:
   • One of the more visible signs of EDS, particularly in classical EDS (cEDS), is hyperextensible skin. The skin can stretch beyond the normal range and feels soft or velvety. This extra elasticity comes at a cost, though— the skin tends to tear or bruise more easily because of its fragile structure.
4. Fragile Skin and Easy Bruising:
   • The fragility of the skin in EDS patients is quite pronounced. Even minor trauma, like a light bump, can cause significant bruising or tears. This happens because the collagen supporting the blood vessels is weakened, so they rupture more easily. For those with vascular EDS (vEDS), this fragility extends to blood vessels, increasing the risk of life-threatening internal bleeding or organ rupture.
5. Slow Wound Healing and Atrophic Scarring:
   • People with EDS often report slow wound healing. Even small cuts can take a long time to heal and usually leave atrophic scars, which are sunken and more noticeable. Surgical wounds can also be problematic, as they may heal wider than expected due to the weakness of the surrounding tissues.
6. Frequent Joint Dislocations and Subluxations:
   • Because of joint instability, people with EDS often experience dislocations or subluxations (partial dislocations) with very little force. This can happen in major joints like the shoulders, hips, and knees, but it can also affect smaller joints, like fingers or toes. Over time, these repetitive injuries lead to chronic instability and potentially permanent joint damage.
7. Chronic Fatigue:
   • Fatigue in EDS is multifactorial. The body is constantly using extra energy to stabilize joints, which leads to muscle exhaustion. Add to that the chronic pain, poor sleep from joint instability, and overall body strain, and it’s easy to see why chronic fatigue becomes a significant problem.
8. Gastrointestinal (GI) Problems:
   • GI issues are common in EDS. People often experience bloating, constipation, and irritable bowel syndrome (IBS), likely due to connective tissue problems affecting the smooth muscles in the digestive tract. This slows down motility, leading to a range of uncomfortable GI symptoms.
9. Dysautonomia:
   • Many individuals with EDS also suffer from dysautonomia, where the autonomic nervous system—which controls things like heart rate and blood pressure—doesn’t function correctly. This is often seen as Postural Orthostatic Tachycardia Syndrome (POTS), where standing causes a dramatic increase in heart rate, leading to lightheadedness, dizziness, and sometimes fainting. It can seriously impact quality of life, as the autonomic nervous system is involved in regulating a lot of bodily functions.
10. Thin, Translucent Skin (in vascular EDS):
    • In vascular EDS (vEDS), the skin is often so thin that you can see veins underneath, especially in areas like the chest and hands. This subtype is particularly concerning because it’s associated with arterial rupture, organ rupture, and other severe vascular complications that can be life-threatening.

EDS is a genetic disorder, so symptoms often appear early, though the severity and specific symptoms can vary depending on the subtype. For example, hypermobile EDS (hEDS) is usually less severe, focusing more on joint hypermobility and skin issues, whereas vascular EDS (vEDS) carries a much higher risk of vascular complications, like arterial rupture.

The condition is genetic, so symptoms often begin in childhood, though the severity and specific presentation can vary widely from person to person. There’s no cure, and treating EDS requires a multidisciplinary approach. Treatment is often focused on pain management, joint stabilization (through physical therapy), and lifestyle adaptations to minimize injury risk. In some cases, people with vascular EDS may need to be under the care of a vascular surgeon or cardiologist because of the risk to blood vessels and organs.

A combination of clinical evaluation, family history, and genetic testing is typically required for an accurate diagnosis, especially to differentiate between the various types of EDS.

These symptoms can vary in severity depending on the type of Ehlers-Danlos syndrome. If you or someone you know experiences multiple symptoms like joint hypermobility, chronic pain, or easy bruising, it’s important to consult a healthcare provider, preferably one experienced with connective tissue disorders, for a proper diagnosis and management plan.

Because EDS is genetic connective tissue disorder and connective tissue is everywhere, EDS affects many systems, leading to a variety of comorbidities. Here are some of the most common conditions that often go hand-in-hand with EDS:

Postural Orthostatic Tachycardia Syndrome (POTS):

• A type of dysautonomia, POTS causes an abnormal increase in heart rate when standing up, often leading to dizziness, fainting, and fatigue. It’s thought to be linked to blood vessel laxity, which means they can’t regulate blood flow effectively. In people with EDS, their veins are more elastic, which can impair circulation, particularly when moving to an upright position.

Mast Cell Activation Syndrome (MCAS):

• This condition involves overactive mast cells that release chemicals like histamine inappropriately, leading to symptoms that mimic allergic reactions, such as flushing, hives, swelling, and gastrointestinal issues. In EDS, there seems to be a higher prevalence of MCAS, likely due to the immune system’s involvement in connective tissues.

Chronic Fatigue Syndrome (CFS/ME):

• People with EDS often experience chronic fatigue that isn’t improved by rest, largely due to the body’s constant effort to stabilize joints and compensate for instability. In combination with poor sleep (due to pain or joint issues) and overall systemic strain, this fatigue becomes a significant daily issue, similar to what you see in CFS/ME.

Fibromyalgia:

• There’s significant overlap between EDS and fibromyalgia, especially in terms of widespread pain. Both conditions involve chronic musculoskeletal pain, but in EDS, this pain is often related to joint instability, whereas fibromyalgia is characterized by heightened sensitivity to pain.

Irritable Bowel Syndrome (IBS):

• Gastrointestinal problems are common in EDS because the smooth muscle in the digestive tract relies on healthy connective tissue. The connective tissue laxity can lead to slow motility, causing bloating, constipation, abdominal pain, and even GERD (gastroesophageal reflux disease).

Temporomandibular Joint Disorder (TMJ):

• Many people with EDS experience TMJ disorders, where the temporomandibular joint (the joint connecting the jaw to the skull) becomes misaligned or painful. This is due to joint hypermobility, which affects the jaw’s stability and can lead to chronic jaw pain, clicking, or even dislocation.

Gastroparesis:

• In more severe cases of EDS, the connective tissue weakness in the stomach can cause gastroparesis, a condition where the stomach muscles don’t function properly, leading to delayed emptying of food into the intestines. This causes nausea, vomiting, and bloating.

Sleep Apnea:

• Many EDS patients develop sleep apnea, where breathing repeatedly stops and starts during sleep. This is often due to laxity in the upper airway tissues, which causes airway collapse. Obstructive sleep apnea can worsen fatigue and reduce sleep quality even further.

Scoliosis:

• Scoliosis is common in people with EDS due to weakened connective tissue supporting the spine. As a result, the spine curves abnormally, which can lead to back pain and other complications, depending on the severity of the curve.

Raynaud’s Phenomenon:

• This condition occurs when blood vessels in the extremities (like the fingers or toes) spasm in response to cold or stress, causing reduced blood flow. People with EDS are more likely to experience this because of the fragility and elasticity of their blood vessels.

Pelvic Organ Prolapse:

• Connective tissue weakness can lead to pelvic organ prolapse, particularly in women. Organs like the bladder, uterus, or rectum may descend into the vaginal canal due to the loss of structural support, causing discomfort and urinary issues.

Dysautonomia:

• Dysautonomia refers to a dysfunction of the autonomic nervous system, affecting heart rate, blood pressure, and digestion. It’s common in EDS and can present in multiple ways, with POTS being one of the most frequent manifestations.

Chiari Malformation:

• This is a structural defect where part of the cerebellum (the lower part of the brain) extends into the spinal canal. In people with EDS, connective tissue laxity can lead to a Chiari malformation, which can cause headaches, dizziness, and in severe cases, neurological symptoms.

Tethered Cord Syndrome:

• In EDS, there’s an increased risk of tethered cord syndrome, where the spinal cord is abnormally attached to the spine, restricting its movement. This can lead to neurological symptoms, including weakness, numbness, or loss of bladder control.

Carpal Tunnel Syndrome:

• Carpal tunnel syndrome occurs when the median nerve in the wrist becomes compressed, causing numbness and pain in the hand. The joint hypermobility and ligament laxity seen in EDS can make carpal tunnel syndrome more likely to develop.

Chronic Migraines:

• Cervical instability, especially at the atlantoaxial joint (the joint between the first two vertebrae in the neck), is common in EDS. This instability can cause chronic migraines due to the strain on muscles and ligaments supporting the head and neck.

Mitral Valve Prolapse:

• This is a common heart condition in people with connective tissue disorders, including EDS. The mitral valve doesn’t close properly, which can cause mitral valve regurgitation (blood leaking backward into the atrium), leading to symptoms like palpitations, fatigue, and shortness of breath.

Varicose Veins:

• Weak connective tissues in the blood vessel walls can lead to varicose veins, where blood pools in the veins, causing them to become enlarged and twisted. This can lead to leg pain, swelling, and an increased risk of deep vein thrombosis.

Hernias:

• Hernias are common in EDS due to weakened connective tissues in the abdominal wall. This can cause inguinal hernias, where part of the intestines bulges through the abdominal muscles, or other types of hernias that may require surgical repair.

Myofascial Pain Syndrome:

• In response to joint instability, muscles in people with EDS often become overworked, leading to chronic muscle pain and tightness, similar to myofascial pain syndrome. This pain is often widespread and affects areas like the neck, shoulders, and back.

These comorbidities can make managing EDS more challenging, requiring a multidisciplinary approach involving specialists in cardiology, neurology, gastroenterology, pain management, and rheumatology. Since EDS affects multiple systems, treating one condition often means considering how it interacts with others, making coordinated care essential for improving quality of life.

If you suspect EDS and have multiple symptoms, it’s important to see a specialist familiar with connective tissue disorders for a thorough evaluation.

If the above lists were written out on a piece of paper and I had a highlighter in hand with which I was required to mark everything that applies, you would see a page full of neon lines and underscores.

My manifestations from childhood were severe stomach aches, trouble eliminating, frequent infections, ear aches, persistent chronic nosebleeds, easy and frequent bruising, dental crowding, narrow palate, congestion, crippling anxiety, night terrors, dislocated joints, jaw pain, joint pain (often chalked up to “growing pains”), migraines, Reynaud’s syndrome (hands and feet, especially fingers and toes, would turn purple when exposed to the cold, and become splotchy and red when reintroduced to heat/warmth), chronic fatigue syndrome, insomnia, extreme flexibility, sleep apnea, slightly atrophic scarring, extreme food sensitivities, mast cell activation syndrome, carpal tunnel syndrome, mild scoliosis (my chiropractor told me to stop carrying heavy purses and that did help), extreme muscle pain and cramps, dysautonomia, TMJ and persistent chronic clicking and dislocation of the jaw, coeliac disease, rapid weight gain and weight loss, pelvic floor prolapse, POTS… just to name a few.

These symptoms had me accused of being lazy, among other things, due to my very small window of energy, which was difficult for me to understand as a teenager and 20-something year old, why I never felt the same energy and gusto for life that my peers seemed to. My idea of a good time was a slow day of complete solitude at home, a long hot bath and a book or movie before bed. As I turned 30, I saw this become even more of a truism.

While I am not new to this journey, I am new to this diagnosis, which if anything, rather than just providing me with a label, has provided me with hope. Hope that through treatment, I will find my own personal “cure”. Hope that I can talk about it, and keep talking about it, so that just maybe, someone else who feels very alone in dealing with any number of these, can be pointed in the right direction and can experience relief for the first time.

I will continue to periodically share updates and breakthroughs. While I generally will admit that I like to keep the information I put onto the eternal internet somewhat impersonal and vague, I feel that this is too important to keep as the secret that it has been, the last 30-something years.

Much love,
Ashley

_{For more details, you can check sources like the Ehlers-Danlos Society.}