The Challenges of Diagnosing Ehlers-Danlos Syndrome (EDS): A Personal Journey

Having Ehlers-Danlos syndrome (EDS) is a complex and often challenging journey. My personal journey with EDS began just two years ago when I was 38 years old. For years, I was brushed off, called crazy, and misdiagnosed before I finally received a diagnosis. My story highlights the difficulties in diagnosing EDS and the importance of finding the right medical specialists.

It all started with severe herniated discs that required spinal fusion surgery. During this surgery, a number of alarming issues arose that were very common among those with EDS. For example, my surgical incision did not close properly, and my pain increased dramatically post-surgery. Post-surgery, my veins were unable to support an IV, which meant my body could not absorb the prescribed morphine. Instead, I felt every second of the pain. My veins would burst with the mere insertion of a needle, and what was supposed to be a three-hour surgery lasted over eight hours. My 48-hour hospital stay ended up lasting a week. After much pleading, I was eventually released to see my pain management doctor, who was the only medical professional on my team who believed that there was something seriously wrong with my body.

Diagnosing EDS: A Multifaceted Process

Ehlers-Danlos syndrome is notoriously hard to diagnose for several reasons. Firstly, it is often considered a rare disease, leading to limited coverage in medical education. Most doctors are not trained to consider EDS as a potential diagnosis, which means many cases go undiagnosed or misdiagnosed. Thankfully, this is slowly changing as awareness increases.

Another challenge lies in the fact that there are no specific lab tests for most subtypes of EDS. This means that it is not detectable through blood work or tissue samples, as the genetic markers have yet to be discovered. Diagnosis is typically made by taking a comprehensive medical history of both the patient and their family. Factors such as skin elasticity, joint hypermobility, and past scarring are also crucial in the diagnosis process.

The Role of Geneticists in EDS Diagnosis

Geneticists are the most qualified medical professionals to diagnose EDS. They play a vital role in understanding the underlying genetic components that lead to the syndrome. A genetic diagnosis enables a more targeted approach to managing the disorder, which can significantly improve quality of life.

While there is no cure for EDS, supportive care is crucial. This often involves a team of specialists including pain management doctors, rheumatologists, gastroenterologists, cardiologists, and others, depending on the specific symptoms. Since EDS stems from faulty collagen, it affects the entire body. Symptoms can vary widely in severity from person to person, and the specialists needed to address these symptoms will also vary patient to patient. Some of us experience heart defects, stomach paralysis, and other severe issues.

In conclusion, the journey to diagnosing Ehlers-Danlos syndrome is fraught with challenges. It requires a multidisciplinary approach, often involving persistent efforts from patients to find the right medical professionals who understand the complexities of the syndrome. My story, while not unique, underscores the importance of persistence and collaboration in securing an accurate diagnosis.