Top 3 Rules for Living Well with EDS

Rule #1: It takes a village.

The sooner you accept that fact that you will need to see a multitude of various specialists across the spectrum of types of providers in the medical field to manage your illness – the better you’ll be. At least for now in our specialty-based siloed US healthcare system. Yes, it sucks, is expensive, and is exhausting, but it is our reality, as there are no real singular “EDS doctors” or full-service EDS clinics yet to help manage and treat our overall care. It will take multiple healthcare providers, caregivers, and loved ones to support you in most cases. If you can switch your mindset to accepting the fact that you will not find a “silver bullet” in any form -not a doctor or treatment solution –  you will definitely set yourself up to feel less frustrated. This is learned the hard way, usually. We tried to warn you.

Rule #2: You don’t always have to get genetic testing to prove the diagnosis.

The first advice you might receive is to seek genetic counseling to evaluate and/or confirm which type of EDS you have. It’s highly recommended if you don’t know which type you have or if you suspect any rare type of EDS. This is because there are existing blood tests today to determine many types of EDS, except hypermobile EDS – which is the most common form impacting more than 1 in every 500 people globally, according to Dr. Chip Norris at the Norris Lab studying hEDS. Genetic testing involves not only your collection of saliva and blood for DNA sequencing, but also other family members, including your birth parents, to evaluate the genes presence (or not). Honestly, this process can be very confusing as you learn about nuances like the MTHFR gene and other theories and complexities. The MTHFR gene is involved in important metabolic processes, its relationship to EDS is complex and not fully understood, with ongoing research needed to clarify any direct connections.

So if you are “double-jointed” and suspect any form of hypermobility, the task of testing gets more complicated. There is no conclusive test for hypermobile (hEDS) or hypermobility spectrum disorder (HSD) currently. There is a current diagnostic method that many doctors use and guide others to use, which you can learn more about on the Initial Diagnosis page. The current 2017 EDS International Diagnostic Criterion is not always highly regarded as effective or accurate.

But keep in mind, genetic testing is not required to be diagnosed with hEDS. Any primary care provider can do a clinical exam to confirm the diagnosis if they are open-minded and willing to learn. An expert doctor offers clinical guidance for fellow doctors.

We know that genetic counseling can provide patients and families with information about the nature of EDS, the likelihood of inheritance, and implications for their health and family planning. Testing can identify specific genetic mutations, confirming a diagnosis and helping to determine the type of EDS, which can guide management and treatment strategies. However, the process is complex due to the variability of the syndrome.

This is because not all forms of EDS have identified genetic markers, and symptoms can overlap with other connective tissue disorders, complicating diagnosis and counseling. Moreover, the emotional and psychological impact of a genetic diagnosis must be carefully managed, necessitating a sensitive and informed approach from healthcare providers. Thus, while genetic counseling and testing can offer valuable insights and aid in management, they also present significant challenges and require careful consideration.

The MUSC Norris Lab has recently gained attention for their groundbreaking research in the study of hypermobile Ehlers-Danlos Syndrome (hEDS). In June 2024, researchers at the Norris Lab identified variants in the Kallikrein gene family that are linked to hEDS. This discovery is a breakthrough because the genetic basis of hEDS has been elusive, making diagnosis and management difficult. The Kallikrein gene family encodes enzymes that play a role in many physiological processes, and the mutations are thought to disrupt connective tissue function, which can contribute to hEDS symptoms like joint hypermobility, chronic pain, and skin elasticity issues. 

To learn more about the heritable nature of how EDS might be passed down in family history as a genetic disorder, see the Causes and Genetics page.

Rule #3: Become what the author of the hypermobility patient guidebook, Christie Cox, describes as a “patient patient.”

You will be on long wait-lists to see providers, travel long distances to see experts, and wear out your wallet, your energy, and your patience. Brace for it. She shares below, with permission, her mindset shift  to foster more peace and less suffering in the diagnostic and treatment journey of EDS by inviting patience into your life. You will need it. You might need to navigate a healthcare system not set up for a connective tissue disorder that crosses many end-organ systems, which is how medical students are currently trained, by specialty. This makes it critical to seek a broader perspective of your overall health.

Importance of Avoiding Silos in Healthcare

• Holistic Care: EDS affects multiple systems, and symptoms can overlap between different specialties. Coordinated care ensures all symptoms are addressed comprehensively.
• Prevent Misdiagnosis: Given the complexity and variability of EDS symptoms, consulting multiple specialists reduces the risk of misdiagnosis.
• Optimized Management: Integrated care allows for the optimization of treatments that can affect multiple symptoms across different body systems.

Navigating the healthcare system with EDS can be challenging, and building a team of diverse specialists who communicate with each other can significantly enhance the management of the condition. One solution is to identify a compassionate internist or functional doctor to aid in overall management.

Rationale for Having a Great Internist into Managing The Whole Body

• Comprehensive Care: Internists are trained to deal with whatever problem a patient brings, no matter how common, rare, complex, or intertwined with multiple issues. This makes them particularly well-suited to managing patients with multi-system diseases like EDS, where symptoms are diverse and affect various parts of the body.
• Coordination of Care: An internist can act as a primary care provider who coordinates all aspects of a patient’s healthcare, navigating between different specialists and integrating their recommendations into a cohesive treatment plan. This is crucial for EDS patients who often require input from multiple healthcare disciplines.
• Long-term Relationship: Building a long-term relationship with an internist helps in the management of chronic diseases. An internist who is familiar with a patient’s medical history can more effectively track the progression of the disease, adjust treatments as needed, and provide preventive care.
• Focus on Adult Health: Internists specialize in adult health, which is particularly relevant for EDS patients as many of the complications tend to emerge or worsen in adulthood.

Rationale for Using a Functional Medicine Provider

• Holistic Approach: Functional medicine providers focus on identifying and addressing the root causes of diseases, rather than just treating symptoms. This holistic approach can be particularly beneficial for EDS patients, who often experience a wide array of interconnected symptoms across different body systems.
• Customized Care: Functional medicine is noted for its emphasis on personalized health plans. This personalized approach can help in tailoring interventions that are specific to the individual needs of EDS patients, taking into account their unique genetic, biochemical, and lifestyle factors.
• Integrative Techniques: Functional medicine often incorporates a range of therapies, including nutritional planning, lifestyle changes, stress management, and integrative therapies. These can complement traditional medical treatments to improve overall well-being and manage symptoms more comprehensively.
• Preventive Focus: Functional medicine emphasizes prevention and health promotion, aiming to optimize health before problems become severe. For EDS patients, early intervention can help manage the progression of the syndrome and mitigate potential complications.

Many patients do better with a more comprehensive approach from an internist or a functional medicine style doctor willing to see, test and treat outside of their siloed specialty area.

On Becoming a Patient Patient

Shared by Christie Cox from her book “Holding It All Together When You’re Hypermobile“

“I’m working on having more patience. I tend to want everything to be done immediately and perfectly, which—as you can imagine—doesn’t go over well. It is ingrained in our instant gratification lifestyle and has led me to a life of unmet expectations, disappointments, and frustration. It’s challenging when you are on long waiting lists to see specialist doctors waiting for tests and helpful treatment. For me, it’s been the hardest lesson to learn.

A fundamental mindset shift required to better cope with chronic illness is learning to become “a patient patient.” I believe it is a critical skill to develop to thrive and survive. Learning to take it day by day, hour by hour, or even minute by minute is a key insight for those with chronic illness to learn. Learn to be patient with the medical system, doctors, waiting for test results, long waiting times to see specialists, and with yourself. If you gain nothing else from the book—my best advice I can share is to become a patient patient. I do not mean to stop advocating for yourself. Self- advocacy is the key to success in this journey. I mean for you to allow the unfortunate time it takes to get through grief, waiting lists, and treatment trials and tribulations. I suggest you repeat this in your head every time you sit alone in a doctor’s office for long periods. “I am a patient patient.” Repeat it thousands of times in your head.”