Ehlers Danlos Syndrome (EDS)
Samantha
Samantha is 28 years old and a master’s of social work student. She was originally diagnosed with hypermobile Ehlers Danlos Syndrome (hEDS) after meeting the
diagnostic criteria. Because parts of her medical history, like a spontaneous lung collapse, raised concern for vascular Ehlers Danlos Syndrome (vEDS), she also underwent genetic testing. The test showed a genetic marker that has not been extensively studied, but is associated with vEDS. As a result, her diagnosis was updated to EDS, unspecified type. Due to her symptoms and medical history, her geneticist believes she may have a form of EDS with features of both vascular and hypermobile EDS.
Helpful Information:
Ehlers Danlos syndrome is a group of heritable connective tissue disorders affecting collagen and related connective tissue structures.
Vascular Ehlers Danlos Syndrome (vEDS) and hypermobile Ehlers Danlos syndrome (hEDS) are 2 of 13 subtypes.
Discussion with Samantha
How long did it take for you to get a diagnosis?
It took me around 8 years to receive my diagnosis. I first started experiencing headaches and joint pain when I was around 8 years old. When I was in sixth grade, I had to have an appendectomy and had persistent stomach pain following it. I was unable to attend middle school due to the constant pain and surgeries that followed.
After almost 3 years of trying to figure out why I continued to have pain, it was determined that I had adhesions from the surgery that were wrapped around my intestines and other stomach organs. I had manual release therapy to break up the adhesions and was able to return to school. In high school I continued to have joint pain, migraines and other symptoms that impacted my quality of life. In junior year, I had a spontaneous collapsed lung requiring hospitalization. After years of extensive research into my symptoms, my mother came across Ehlers Danlos Syndrome (EDS) and I was able to be referred to a geneticist where I was diagnosed.
What was the hardest part of that process?
The hardest part of the process was not being believed or taken seriously by physicians. It was heavily implied that I was lying about my symptoms to get attention or to get out of school. For example, I frequently had physicians ask me if I was being bullied in school or if there was another reason I would not want to attend school. I also had family members and other people in my life that treated me like I was exaggerating or lying. Since my symptoms were not visible, or easy to diagnose, it wasn’t taken seriously. I also had a hard time coping with how much it impacted my life. I lost out on attending middle school in person and the time I spent sick in high school impacted my ability to have a social life. I felt like a lot of my childhood was spent being sick, which was difficult to deal with.
How does EDS affect your day-to-day life?
It impacts my day to day life in a lot of ways. How I feel determines how much work I am able to get done. If I am having a bad day, I am unable to be as productive as I would like to be. On days that I do feel well I usually have to spend it catching up on tasks that I was unable to do. Sometimes it feels like my productivity is dependent on my health which can be really exhausting mentally.
What has your experience with doctors or healthcare been like?
I have had bad experiences with most doctors or healthcare workers. I have rarely felt heard by them. Additionally, I have experienced doctors not catching simple diagnoses due to them not listening to me. When I go visit doctors now, I go in expecting to not be taken seriously which is unfortunate.
Based on your experience, what is one thing healthcare professionals could do differently to meaningfully improve the patient experience?
There are many things that I think healthcare professionals could do differently. I think that being open to researching a patient’s symptoms would be really valuable. Many of the doctors I have seen seem to only consider the diagnoses they are familiar with. If symptoms don’t add up or make sense, a healthcare professional should be open to researching and learning about other options.
Additionally, it is important that they listen to their patients and believe them. Not all diagnoses are easy to come to but being persistent in finding out what is wrong with a patient would be valuable. Knowing that a healthcare professional not only believes you, but is fighting for you, would make all the difference.
Is there anything you wish more people understood about EDS?
I wish more people understood that EDS can impact people in so many different ways and impacts all parts of the body. Additionally, it can vary in severity day by day. Just because someone with EDS felt amazing one day doesn’t mean they will the next. Being understanding of how much this syndrome varies would be really valuable and would make people with EDS feel more understood.
What advice would you give to others navigating a rare or complex condition?
The advice I would give would be to be persistent. If you know something is wrong, don’t let doctors tell you otherwise. I never would have been diagnosed with EDS if my mother hadn't been persistent and spent countless hours researching my symptoms. After finding out about EDS, my mother printed out information on it and had to convince my pediatrician to refer me to a geneticist. If it hadn’t been for her advocating for my health, I never would have obtained a diagnosis. This made me realize the importance of
advocating for yourself and your health.