Like many people, my hypermobile Ehlers-Danlos Syndrome (hEDS) was diagnosed after a steep and sudden decline in my health. I had been navigating fatigue, pain, and fogginess for years, but in April 2020, I became bedbound for months following an incident during a Zoom call where I began blacking out and twitching. I had been diagnosed with Postural Orthostatic Tachycardia Syndrome (POTS) about a year earlier, which could cause me to get dizzy or pass out when upright, but something was different this time. Something felt much worse.

For the next few months, I needed to lie as flat as possible as symptoms became worse if I sat up or moved around. Even lying on my back with my head elevated on a pillow was too much. At times my ears also leaked fluid, and it hurt my brain to think, read, or watch TV. Had I been diagnosed with EDS at the time, my doctor or I may have recognized the signs of a cerebrospinal fluid (CSF) leak sooner, as these are more common in those with EDS. But because I didn’t know, I was not able to ask for treatment (a blood patch), nor did any doctor think to suggest it.

Challenges of EDS Diagnosis

Since my EDS diagnosis, I find myself in a lot of conversations with people who suspect that they have some form of EDS but they’re not sure how to get an official diagnosis or whether it’s even worth the effort. This is because getting diagnosed with EDS can often be a long and challenging process. Here are a few of the top reasons.

• Knowledge Gaps
  • It can sometimes be difficult to find a doctor who is familiar with EDS or knowledgeable enough to diagnose it. In many cases, patients need to see a specialist, such as a geneticist or rheumatologist.
• Gatekeeping:
  • You may need to ask your GP for a referral to a specialist. But some doctors may decline these requests because they either “do not believe in EDS” or hold certain myths to be true, such as “EDS has no treatments, so there is no point in getting diagnosed”.
• Diagnostic Limitations:
  • While twelve out of the thirteen subtypes of EDS can be diagnosed by a genetic test, the most common form, hypermobile EDS (hEDS), is currently the only subtype without a known genetic marker. This means it is diagnosed clinically based on established diagnostic criteria that rely heavily on a doctor’s training and interpretation of a patient’s symptoms and history. This can make the hEDS diagnostic process less consistent between clinicians.
• Expense:
  • If you are lucky enough to get a referral to a specialist, the process can be expensive, particularly if you need to travel far or pay high out-of-pocket fees for the appointment.
• Energy:
  • Pursuing a diagnosis can be exhausting physically, emotionally, and mentally. Because of this, you might need to take frequent breaks from pursuing a formal diagnosis, as energy is at a premium.                                                                                                     

Because of all this, EDS can often take years or decades to diagnose. Despite these challenges, I always find myself telling people that an EDS diagnosis has been worth it for me, and here’s why.

Why an EDS Diagnosis Is Worth It

TREATMENTS AND ACCOMMODATIONS

A few years before I was diagnosed, I did a stint of twice-weekly physical therapy on my neck that involved a lot of massage and not a lot of actual resolution of the problem. When I finally saw an EDS-aware physical therapist, I was amazed to learn how my neck pain related to ligament laxity all over my body. I was given a full-body home routine to strengthen my muscles to support my joints, and my quality of life improved tremendously. If physical therapy isn’t right for you or isn’t moving the needle enough on your pain, an EDS diagnosis may also help you gain access to pain management solutions that might otherwise be difficult to obtain, like braces and mobility aids, prescriptions for pain relief (such as NSAIDs or medical cannabis where it is legal), or referrals to pain management clinics.

Diagnosis can also make it easier to request accommodations at your school or workplace, or to brainstorm your own accommodations at your home. After my diagnosis, I added chairs to my closet, my kitchen, and my bathroom, and created a reclining workstation for my home office so I could work with my neck supported and my feet elevated (like I’m doing right now!). 

TREATING COMORBIDITIES

EDS often comes with many comorbidities that doctors might not think to look for or treat unless they are already evaluating you for EDS. Some of the most common ones are dysautonomia and Mast Cell Activation Syndrome (MCAS), both of which I have. Understanding these different comorbidities opens the door to better, more tailored care. In my case, I did not have traditional allergy symptoms, so it never occurred to me that daily over-the-counter antihistamines might help manage my MCAS symptoms until a geneticist recommended them.

QUICKER RECOGNITION AND REFERRALS

Because connective tissue is found throughout the body, people with EDS may be more prone to certain underrecognized or rare conditions and complications, depending on their subtype. An early EDS diagnosis can lead to faster recognition, referrals, and treatment. While I haven’t experienced another CSF leak since getting diagnosed with hEDS, I take great comfort in knowing that we have the knowledge to react quickly if something like that ever happens again.

BETTER LONG-TERM RISK MANAGEMENT

An EDS diagnosis can also help mitigate complications before they occur, as different screening tools may be recommended depending on your subtype. For example, those with vascular EDS (vEDS) are at an elevated risk for aortic dissection. For me, I now understand more about my past injury history and can take steps to strengthen and protect my joints to reduce my risk of future injuries and pain. There is also emerging research that suggests people with EDS may face an elevated risk of Long Covid. Understanding the relationship between my immune function, my connective tissue, and my lifelong extreme reactions to pathogens has helped me make more informed decisions about exposure risks.

MENTAL HEALTH BENEFITS

In addition to all the medical benefits of accurate diagnosis, my hEDS diagnosis has also had a positive impact on my mental health. Living with undiagnosed and unexplained illness takes a huge mental toll, and I spent an inordinate amount of time wondering what was wrong and wishing I understood enough about the problem to begin rebuilding my life.

Accurate diagnosis gave me a working model for understanding what was going on in my body and helped me determine where I could problem solve and where I needed to focus on acceptance. It also gave me the language I needed to explain what had been happening to my friends and family, which made it easier to reconnect with people after diagnosis.

For me and many people I’ve spoken to, living with undiagnosed symptoms can also lead to a lot of self-doubt. I often wondered if I was imagining or exaggerating my symptoms, or if everybody lived with this much pain and fatigue but they were better at powering through it than I was. Diagnosis gave me the tools to rebuild trust with my body instead of tuning it out, and a new confidence in my understanding of my experiences.

Brianne Benness, Author
& Host of No End In Sight
Edited by Jacqueline Teti, Editor-in-Chief