Do you find it challenging to find physicians knowledgeable about Ehlers-Danlos syndromes and hypermobility spectrum disorders? Us too!
Meet Julie Griffis, PT, and fellow zebra warrior.
Julie and I have walked a similar path. You may have walked this path too. We have been told that there is nothing wrong with us. We know what it feels like to be told your symptoms are all in your head.
In honor of EDS and HSD Awareness Month, Julie and I shared her story in a blog post for Kevin, MD, "Social media's leading physician voice". You won't want to miss this first ever Kevin MD editorial with Ehlers-Danlos syndrome in the title.
Will you join me in thanking Julie for sharing her experiences and writing this expanded version as a guest blog by sharing with your family, friends, and healthcare professionals?
-Linda Bluestein, MD
The difficult to diagnose comorbidity that plagues Ehlers-Danlos syndrome patients
Chances are, if you’ve heard of “dysautonomia,” it’s in relation to the buzz surrounding the recently identified post-COVID-19 syndrome. However, dysautonomia is not new. Patients with the multi-systemic connective tissue disorder Ehlers-Danlos syndromes (EDS) have long suffered with this elusive comorbidity which contributes to some of its most disabling symptoms. As a physician, you may be asking yourself, “Why should I be concerned with these mysterious conditions?” You may not know it, but it’s likely that you have at least one “difficult” patient in your practice right now who has undiagnosed EDS. Unfortunately, due to lack of awareness about this disease, and a clinical presentation of a constellation of seemingly unrelated multi-system symptoms, the average time it takes for a patient to be properly diagnosed is 10-12 years.
My name is Julie Griffis, and I am in the unique position of being both an EDS patient and a physical therapist. Unfortunately, even as a healthcare professional, it took over 20 years to be diagnosed which places me in the ever growing group of patients who wait decades for accurate diagnosis and effective medical management. May is “EDS Awareness Month,” and I’d like to share my experience to better help you recognize these frequently missed conditions in your patients.
I wasn’t aware of it at the time, but I have spent my entire adult life trying to tell my doctors that I was experiencing the debilitating symptoms of EDS and dysautonomia. As a patient, it has been frustrating trying to find answers and treatment for my debilitating symptoms. As a healthcare practitioner, I can understand how difficult it is to see how all these seemingly unrelated symptoms fit together.
I would tell my doctors: “I just don’t feel well, something isn’t right…It feels like I’m wrapped in a 200 pound wet, wool blanket- the fatigue is crushing...I’m so exhausted after work that I literally have to crawl in the front door and lay on the floor…I’m in so much pain it takes me 2 hours in the morning to get out of bed...I have pain every single day...Sometimes I get so uncomfortable that feel like I want to crawl out of my own skin!…I was just standing at the counter chopping vegetables, and my heart rate went up to 160 bpm…The brain fog is a real struggle- my memory is terrible and I feel like my head is encased in a block of gelatin...I feel anxious all the time, but I don’t feel like I have a reason to be...I randomly lose my hearing and vision and feel like the room is spinning.”
Despite seeing a myriad of specialists, the reason for my dwindling health remained a mystery. As the years passed, the severity and number of symptoms grew. I felt helpless as I watched a life-long career in physical therapy, and my ability to participate in my life as a vibrant, involved mother, partner, and friend slowly slip away as it became more and more difficult for me to tolerate everyday activities. In September of 2020, at the urging of my physical therapist, I saw yet another doctor. I was hesitant. My disappointing experience of trying treatment after treatment without improvement, and hitting dead ends with specialists who, after not being able to help me, concluded there was nothing wrong, had left me with little hope.
After listening to my story and complaints, this new doctor asked me to do some movements with my body, and then she said “did anyone ever tell you that you might have hypermobile Ehlers-Danlos syndrome?” I admitted that it had never been considered by anyone in the past, but I was only familiar with the classic and severe form of EDS which I had learned about in school, and that didn’t seem to match my clinical presentation. She explained that in 2017, the diagnostic criteria for EDS was revised, and there are now thirteen distinct subtypes, the most common of which being hypermobile type or hEDS. She asked me to do some research so we could discuss it during our next visit.
I went to Ehler-Danlos.com and began combing through all the information I could find. I learned that Ehlers-Danlos syndromes are categorized as heritable disorders of connective tissue, and consist of thirteen distinct subtypes which are varied both in how they affect the body and in their genetic causes. They are generally characterized by joint hypermobility, skin hyperextensibility, and tissue fragility.(1)
While some of these subtypes are extremely rare, the most common subtype of EDS is hypermobile EDS (or hEDS). The true prevalence of hEDS is unknown, although recent estimates translate to 10 million affected in the US alone.(2) In all of these heritable disorders, genetic mutations cause the body to produce faulty connective tissue. As you know, connective tissue is the “glue” that holds the body together and is imperative for the proper functioning of all systems. With “weak glue,” the body becomes a minefield of problems.
As soon as I began reading the common clinical presentation, comorbidities and diagnostic criteria, it felt like I had finally found the missing piece to my complicated puzzle that brought everything together. I am hypermobile in many of my joints meaning my ligaments and tendons were too loose to support them properly. This leads to frequent joint subluxations which explain why my joints were always cracking, popping and getting “stuck.”
Because my joints are unstable, the muscles surrounding them need to work much harder to provide stability resulting in widespread, chronic myofascial pain, inflammation, muscle spasm, trigger points, and soft tissue injuries. The symptoms of EDS aren’t limited to the musculoskeletal system, and commonly affect everything from hearing and vision, to integumentary issues such as prolonged wound healing, excessive stretch marks and easy bruising; all things my doctors had difficulty explaining.
Weak vasculature results in orthostatic intolerance and varicose veins which I’ve had since highschool. It also became apparent that the specialists I had seen had contributed valuable information to the overall puzzle, but were simply not able to put it all together. I had accrued an impressive laundry list of diagnoses commonly associated with EDS which included: chronic migraine with visual aura, gum disease, adenomyosis, anxiety, fibromyalgia, chronic fatigue, restless leg syndrome, periodic limb movement disorder, lumbar spondylolisthesis, sacroiliac dysfunction, urinary tract dysfunction, hiatal hernia, tinnitus, hearing loss, and early onset osteoarthritis in multiple joints.
EDS explained everything right down to the funny bumps on the sides of my heels called piezogenic papules and my velvety soft, delicate skin. In one article I read, a physician explained how she makes sense of this constellation of multi-system symptoms by using the phrase: “If you can’t connect the issues, think of connective tissues.” That was the lightbulb I needed! It all made sense. Next, I was referred to a rheumatologist who has experience with diagnosing EDS patients. After some blood tests to rule out rare autoimmune disorders and an echocardiogram to rule out cardiac complications, the diagnosis of hypermobile EDS was official.
Since my diagnosis, I have committed myself to learning as much as I can about the disease, it’s comorbidities, and treatment options. I recently read an article that talked about the symptom burden dysautonomia places on patients with hEDS. The researchers investigated the impact of dysautonomia on the quality of life of patients with hEDS compared to those with other diseases. They found that the significant symptom burden of dysautonomia results in a reduced quality of life for hEDS patients which can be as high as in patients diagnosed with congestive heart failure or chronic obstructive pulmonary disease.(3)
So, what is dysautonomia? It is a complex, misunderstood group of neurologic conditions caused by abnormalities in how the autonomic nervous system (ANS) functions. Dysautonomia produces a wide variety of symptoms that range from mild to severely debilitating, and can even be life threatening in some cases. According to the “The Dysautonomia Project,” the seven most common symptoms of dysautonomia are: difficulty standing still, fatigue, lightheadedness, nausea and other GI symptoms, brain fog or mental clouding, heart palpitations or chest discomfort, and shortness of breath or difficulty breathing.(4)
As you can see, many of these symptoms are broadly non-specific, and individually, can be very common in the general population. The ANS is also affected by EDS as it struggles to regulate essential functions within a faulty system. Specific types of dysautonomia are known to be associated with EDS, such as postural orthostatic tachycardia syndrome (POTS) which explained my complaints of irregular and racing heartbeat, tachycardia with prolonged standing, heart palpitations, presyncope, extreme fatigue, and heat intolerance.
The exact prevalence is still widely unknown, but identification of these complicated comorbidities tends to be reserved for practitioners who specialize in the diagnosis and management of EDS patients because of the higher prevalence among this population.
As a physician, you understand the importance and function of connective tissue and the autonomic nervous system. Despite this knowledge, many of you do not readily include these disorders in your differential diagnosis. Although there is no cure, accurate, early diagnosis is so incredibly important for maximizing patient outcomes and minimizing life-long disability in this population. One of the most negatively impactful interactions a physician can have with a patient is telling them: “there’s nothing wrong with you, it’s all in your head.”
Once an accurate EDS diagnosis is made, there are many effective treatment options available which are often best managed by a multidisciplinary team approach. Consider finding local resources for referring these patients to neurologists, cardiologists, physical therapists, and other practitioners specializing in EDS. The sad fact is that EDS and dysautonomia are extremely debilitating disorders that many physicians simply aren’t looking for.
My hope is that this article will encourage you to further research these conditions and their clinical presentations. The next time you encounter a patient who may be suffering from mysterious, multi-system symptoms of a seemingly unknown cause, you can remember the phrase: “If you can’t connect the issues, think of connective tissues” and include EDS in your differential diagnosis.
References and Resources:
1. EDS Society Website: “Cardiovascular Autonomic Dysfunction in Ehlers–Danlos Syndrome—Hypermobile Type”
2. Tinkle B, Castori M, Berglund B, et al. Hypermobile EhlersDanlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): clinical description and natural history
3. “Autonomic symptom burden in the hypermobility type of Ehlers-Danlos syndrome: A comparative study with two other EDS types, fibromyalgia, and healthy controls.” Seminars in Arthritis and Rheumatism
4. “The Dysautonomia Project: Understanding Autonomic Nervous System Disorders for Physicians and Patients”
Books:
“Understanding Hypermobile EDS and HSD” by Claire Smith
“Disjointed | Navigating the Diagnosis and Management of hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders”
About the author
Julie Griffis was born and raised in the beautiful state of Vermont where she attended the University of Vermont and graduated with a degree in Physical Therapy. She has been practicing physical therapy and managing rehabilitation departments in a variety of settings for over 22 years. Over the course of her career, has focused most of her professional continuing education on holistic healing modalities such as Therapeutic Yoga, CranioSacral Therapy, Integrative Bodywork, Herbalism, and many forms of Healing Mindfulness and Intentional Movement Practices including Pilates.
After battling mysterious, debilitating health issues of unknown cause for most of her adult life, she was recently diagnosed with a genetic, multi-system, connective tissue disorder called hypermobile Ehlers-Danlos Syndrome (EDS). Being diagnosed with a relatively unknown chronic illness motivated her to learn as much as she could about this condition, and she is now dedicated to being an advocate for EDS Awareness.
Her health issues initially forced her to step away from practicing Physical Therapy full-time, and during that time, she opened an Art Studio and began creating and teaching art as an expressive and nourishing self-healing therapy for herself and others. Because she spent years unable to find answers or beneficial treatment from the traditional, Western medical specialists and pharmaceutical interventions, she turned to learning and using natural forms of medicine for herself. She found cannabis to be one of the most healing plants and treatment modalities she encountered. Because of this, several years ago she completed courses at the University of Vermont Larner College of Medicine, and obtained her Professional Certification in both Cannabis Science & Medicine and Cannabis Plant Biology. She is a member of the Society of Cannabis Clinicians which allows her to stay up to date with the most current evidence-based research in the field of medicinal cannabis. She has since created a non-profit organization called the Healing Arts Foundation which is dedicated to improving public safety by serving the medicinal cannabis community through evidence based education, research, and care.
For more information about Julie and the Healing Arts Foundation, please visit HealingArtsFoundation.org.
About the image
As an aside...I thought this was a funny EDS pic that you might appreciate- ha! Don’t worry, I don’t sit like this anymore- but I was always so impressed and proud that I never “lost” my ballet turn out (I danced from the time I was 2 until I graduated high school) but now I know why ;)
ID: Julie Griffis, PT, wearing a red top sitting on a rock in the lotus pose.