Ehlers-Danlos Syndrome (EDS) and the most common type - hypermobile EDS (hEDS) - was recently described by a new zebra pal as a "carousel of chaos," a term that encapsulates the whirlwind of disbelief, diagnostic challenges, and the relentless search for medical providers who understand this complex disorder. EDS, a group of hereditary disorders affecting connective tissues, presents a spectrum of symptoms that can vary greatly in severity and presentation, making it a medical enigma.Â
The concept of a carousel resonated with me because trying to manage the symptoms, injuries, flares, and recovery periods leaves patients feeling like we go two steps forward and two steps back. But it's not a linear progression; it's more like a never-ending cycle. A repetitive boom-and-bust wild ride we cannot step off and spend time swirling in brain-fog, many times confused.
The first challenge in the hEDS journey is often disbelief. Despite the significant physical symptoms, many patients find themselves brushed off by medical professionals and loved ones alike. Relationships, ability to work, retain your identity, and carry on your usual activities of daily life become altered without notice. Symptoms like hypermobility, frequent dislocations, and chronic pain are often downplayed or misunderstood as invisible illness that's "all in your head" as a psychological diagnosis in error. This disbelief often results in frequently being gaslit, which can lead to a profound sense of isolation and frustration for patients who are acutely aware that something is seriously wrong.
The diagnostic process for EDS is a maze in itself. There are no simple tests for most types of EDS; instead, diagnosis is typically made based on clinical evaluation and family history by doctors who have not been trained to recognize connective tissue disorders (with a single question on their medical boards exam). However, the lack of awareness and understanding among healthcare professionals means that many patients face a lengthy and often demoralizing process. Misdiagnoses are common, and patients may spend years, even decades, seeking answers.
Once diagnosed, the struggle doesn't end. In many ways, it is the beginning of the research project of your life. Finding medical providers who are knowledgeable about EDS and can provide appropriate care is a significant hurdle. Many doctors who might be aware of hypermobility are not confident in diagnosing it, and they don't know who to refer you to as a specialist, as a recent research analysis says. Much more needs to be done in the medical community to educate providers. The syndrome can affect multiple systems in the body, requiring a team of specialists for comprehensive care. However, the rarity and complexity of the disorder mean that such specialists are few and far between. This lack of access to knowledgeable care can lead to inadequate treatment and management of symptoms, exacerbating the patient's suffering.
Moreover, the chronic nature of EDS means that patients often have to navigate a healthcare system that is ill-equipped to handle long-term, complex medical needs. Insurance battles, high medical costs, and the need for frequent appointments and treatments add to the stress and complexity of managing the disorder, depending on how the symptoms impact each patient, requiring various and unconnected healthcare team members. The financial burden of EDS is currently being researched to better quantify the scope and impact many families face. Bottom line, patients must learn to advocate for themselves as not many providers can manage the complexity, which starts with learning anatomy to explain their symptoms with credibility to doctors. It's critical to learn as much as you can and for now crowdsourcing your care with help from other patients seems to be the best solution.
This journey is not just a medical battle; it's a test of resilience and endurance for patients and their caregivers. Greater awareness and understanding of EDS among both the medical community and the general public are crucial in breaking this cycle. Until then, I continue to contribute in ways I can by offering hope and support to those riding this challenging carousel until there's a genetic test to properly diagnose hypermobility and effective treatments.