Hypermobile Ehlers Danlos Syndrome – care must be easier
State: New Jersey
Congressional District: NJ12
Chronic Pain, Genetic Disease, Mental Health, Rare Disease
Issues and Challenges
Katie has encountered: Access to Expert Providers, Rare / Underserved Disease, Invisible Illness, Job Insecurity / Loss
My story as a patient began when I was 26. I was newly married and had just started a new job that required me to commute about 2 hours to work each way. I first started noticing my neck pain during these long drives. At the time, I was a pretty active person and had always been prone to sports injuries. It made sense that such a long commute would take a toll on my body. I started physical therapy and hoped I would feel better soon.
As the months went on, the pain got worse. It spread from my neck to my shoulders, face, chest, back, and sides. Every few weeks I would end up back in my primary care doctor’s office sometimes in tears. I even took a new job with a shorter commute.
Between 2018 and 2021, I had spine surgery to replace a herniated disc with a prosthetic in my neck, and I was in and out of physical therapy, the ER, and many specialists’ offices. That spine surgery eventually failed. Despite working from home, my job became too much to handle and I spent many months out of work on disability before eventually needing to resign. During this time period, I started losing hope that I would ever figure out what was causing my pain.
After a few months more, even my physical therapist was becoming frustrated. My pain was getting worse, not better, and beginning to spread to other areas of my body. I was starting to experience pain in other joints. So she asked another physical therapist to consult on my case and this is where we finally had a breakthrough! He watched me do my exercises for about 5 minutes and asked if anyone had ever told me I was hypermobile. He was the second provider to mention Ehlers-Danlos Syndrome to me and the first to really help me understand what steps to take next. I started doing more research and the pieces began to fall into place. I learned that a lot of my pain was being caused by partial dislocations of my joints and the stress my body was under from holding itself together. EDS is a connective tissue disorder that impacts multiple body symptoms. My primary issue is that my ligaments and tendons are stretchier than most people’s, causing instability in my joints.
It took another few months to get officially diagnosed. Finding providers knowledgeable enough to diagnose EDS is difficult, even though I live in a region of the country with many top hospitals. I eventually found an amazing pain management neurologist with EDS experience, who diagnosed me with Hypermobile Ehlers Danlos Syndrome and helped treat my pain. I also saw a geneticist and found out that I have two genetic mutations that are possibly the cause of my EDS, although more patient data is needed before researchers know for sure.
Getting the diagnosis even allowed me to look back at all the sports injuries I had in my teenage years and see how EDS was impacting me earlier than I thought. I was a competitive runner in high school and had experienced injuries ranging from stress fractures in my spine to hip misalignments to Osgood-Schlatter disease. A lot of suffering and stress could have been prevented if any of the many providers I saw throughout my teens and 20s were familiar with EDS and hypermobility and could have spotted it.
The road has been long even after diagnosis. Adapting to my changing body is difficult. My disc replacement surgery failed after 2 years because my stretchy ligaments could not hold the prosthetic disc in place. I underwent spinal fusion surgery in June of 2022 and healing from that has been extremely slow. EDS is a rare disease so there isn’t much research on how patients like me respond to spine surgeries.
This experience has led me to notice a few different issues that I am passionate about addressing:
1) We need more research and education for providers on Ehlers-Danlos Syndrome.
2) While EDS is rare, it is one of the most common rare diseases and impacts many more people than providers usually realize. The diagnostic criteria for EDS are complicated and there are still many gray areas and gaps in what we know about the genetic causes. The more information that is gathered and the more providers who know how to spot hypermobility, the less time it will take for EDS patients to receive diagnoses and get care.
3) We need more coordination between specialists.
To treat my EDS, I see many different specialists. All of whom focus on a specific area of the body and don’t typically look at my illness as a whole. Rare disease patients of all sorts would benefit from a medical system that did a better job of coordinating care and looking at the whole patient.
4) We need more education and less stigma around treating pain.
Living with chronic pain is incredibly difficult and takes a huge psychological toll on patients. Pain patients often encounter providers who blame the pain on psychological issues, rather than seeing the psychological issues as an outcome of living with pain. There is also a lot of stigma around pain medication because of its dangers. Finding new ways to treat pain that focus on patient functionality and safety is incredibly important.
My hope is that sharing my story will bring awareness to these issues and help other EDS and chronic pain patients feel less alone in their experiences seeking care.
My Motivation and Inspiration
My motivation is to make obtaining care easier for patients living with Ehlers-Danlos Syndrome, chronic illnesses, and chronic pain.