Navigating the healthcare system with suspected or diagnosed Ehlers-Danlos Syndrome (EDS) or Hypermobility Spectrum Disorder (HSD) can feel like an impossible feat - from the frustrating experience of dismissal to healthcare professionals’ limited knowledge about connective tissue disorders. The vast amount of symptom variability further complicates the issue, leading many physicians to struggle to piece the puzzle together.
Health Care Provider Skepticism About EDS and HSD
Many people suffering from symptomatic joint hypermobility initially face dismissal or skepticism from healthcare providers. Being "double-jointed" may be considered harmless or "fun" especially since the term "Benign Joint Hypermobility Syndrome" was in use for some time. The complex nature of these conditions can lead to an extended diagnostic journey, leaving patients feeling unheard and misunderstood.
Compounding the complexities is the fact that physician training programs cover very little about these conditions. Most physicians are unaware of the wide range of symptoms that manifest differently in each person, as well as other conditions that commonly occur with symptomatic joint hypermobility (i.e. hypermobility plus symptoms likely attributable to hypermobility). Other physicians do not believe that these conditions cause pain, which could not be further from the truth. Pain is one of the most common presenting symptoms. While some people experience excruciating daily pain, others may have minimal pain. This variability makes it challenging for physicians to connect the dots and arrive at a conclusive diagnosis. However, amidst the obstacles, there is hope.
How Education Empowers EDS and HSD Patients
Empower yourself through education. Familiarize yourself with the diverse symptoms that can be related to joint hypermobility and connective tissue disorders, including skin abnormalities, musculoskeletal problems, delicate tissues, fatigue, and gastrointestinal problems. Connective tissues are present all throughout the body so issues can arise in just about every bodily system. Review the diagnostic criteria established for these conditions.
I regularly speak with other experts in the field on my podcast Bendy Bodies with the Hypermobility MD. The videos are published on my YouTube channel. I also regularly post educational content on my social media pages, Instagram, Facebook, X, and LinkedIn. Learning about these conditions can be overwhelming and stressful. Monitor the time you spend researching these conditions and how this affects you to prioritize your mental health.
Resources (listed alphabetically)
Bendy Bodies with the Hypermobility MD Podcast - Audio podcast focusing on joint hypermobility and related conditions.
Bendy Bodies YouTube Channel - Videos focusing on joint hypermobility and related conditions.
EDS Awareness - An online resource for the Ehlers-Danlos Syndromes community.
The Ehlers-Danlos Society - Global organization dedicated to advancing research and education in EDS and HSD.
Ehlers-Danlos Support UK - Improving the quality of life for people living with EDS.
Hypermobility Syndromes Association - An organization supporting hypermobile people and the professionals who work with them.
How Can Specialized Care Help EDS and HSD Patients?
Specialized care can be helpful as most healthcare professionals have only a basic (if any) understanding of these conditions. While we don't yet have fellowships specifically for EDS or HSD, rheumatologists, geneticists, PM&R (physial medicine and rehabilitation specialists), and pain management physicians each can serve a role when it comes to treating these conditions.
Rheumatologists are physicians who specialize in autoimmune conditions. They can evaluate you for diseases that may present similarly to EDS and HSD. Geneticists consider the potential role of various genetic disorders given your symptoms and family history. They assess for possible hereditary disorders of connective tissue like EDS, HSD, Marfan syndrome, and Loey-Dietz Syndrome. While the causative gene (or genes) for hypermobile Ehlers-Danlos Syndrome (hEDS) is unknown, genetic testing can be helpful when clinically indicated.
PM&R physicians and pain management physicians both undergo varying degrees of specialized training in the evaluation and treatment of persistent pain. This training may make these two groups best suited to perform the type of assessment an EDS or HSD patient needs. A comprehensive treatment plan and longitudinal care should be offer. This follow up over an extended period of time is likey the most crucial piece to improving someone's functional capacity.
Physical therapists who are knowledgeable about joint hypermobility can guide you through safer movement techniques. They help you develop proper neuromuscular patterns, strength and muscle tone, all of which play a crucial role in stabilizing joints.
Documenting Your Medical History
Prepare for healthcare appointments by compiling a thorough medical history that includes your symptoms, previous diagnoses and surgeries, medications, supplements and allergies, relevant test results, and family medical history. Have both a more detailed document and a concise one for quick reference. Typed bullet point lists are easier for your physician to quickly review.
Be a good historian. Present information as clearly and concisely as you can. Use your time wisely avoiding wandering into unnecessary details. Filling out questionnaires in advance gives you time to thoughtfully consider responses and organize your information.
Develop a list of questions and concerns to discuss at every appointment. It is crucial to approach discussions with physicians in a way that promotes an objective evaluation. Avoid immediately labeling a symptom or suggesting a specific condition so your physician can maintain an unbiased mindset. For example, say “I have pain here (pointing to the area)” rather than saying “My kidney hurts.”
Advocating for Yourself While Pursuing a Diagnosis
If your physician has conducted a physical exam and tests without reaching a diagnosis, it may be an appropriate time to discuss a suspected condition. Consider a more sensitive approach, such as saying, “Doctor, I appreciate you taking the time to explore my symptoms. I recently came across information about (insert condition here), and I noticed some similarities. Could we discuss this condition and explore whether it might be relevant to my situation?”
Always remember… if you do not feel supported by your treating physician despite your best efforts to work with them, find a new one! While this is easier said than done, you have every right to move on to a different doctor.
Diversifying Your Physicians and Medical Care Providers
I also recommend that people struggling to find care might benefit from seeking out younger physicians. They are often more empathetic and have more time to spend exploring the cause of your symptoms. While they may not have as much experience, they may be able to give you the tools needed to better your quality of life and find the resources you need.
Some people are concerned when their physician mispronounces Ehlers-Danlos Syndromes or launches into a Google search during an appointment. I strongly recommend withholding judgment in those cases. While your doctor may not already have a deep understanding of EDS and related conditions, they may be very helpful if they are empathetic, curious, and willing to learn. Share the resources listed above with them and ask if they have other known or suspected EDS or HSD patients in their practice. This question may get them thinking about potential patients with connective tissue disorders that had previously gone undetected.
Navigating Healthcare With the Hypermobility MD
Virtual worldwide consultations are available so you can benefit from my extensive experience in treating EDS and HSD. Clients report finding tremendous value in the detailed notes I offer post-consultation. My recommendations and detailed intake provides local physicians with insight into the client's history, in many cases leading to a specific diagnosis. If you need a member on your team that truly understands your conditions, click here for more information.
Here's to patient empowerment,
Linda Bluestein, MD
The Hypermobility MD