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Living Undiagnosed: The Importance of Diagnosis for Ehlers Danlos Syndrome

Updated: Jun 14, 2023

By Nell Tov


Imagine living your entire life without knowing the cause of the chronic pain you’ve been experiencing. You might feel alienated and discouraged as you go from doctor to doctor with no diagnosis or treatment in sight. While this might seem like pure fiction, it is a reality that more than 650,000 Americans a year with undiagnosed Ehlers-Danlos Syndrome are facing.


Ehlers-Danlos Syndrome (EDS) is an umbrella term for a set of 13 heritable connective tissue disorders that cause instability of the joints. People with EDS may experience frequent dislocations and subluxations, along with an array of other symptoms such as fatigue, dizziness, and digestive problems. EDS is also a progressive disorder, meaning that symptoms may get worse with time.


The lives and stories of people with EDS seem to vary widely, but one thing that unites their experiences is the difficulty to receive a diagnosis. Fiona Neale didn’t receive a diagnosis until her late teens. Despite this, she was experiencing frequent subluxations and even extreme pain while she was walking. However, the medical community was giving her no answers. Instead, Neale was considered “neurotic” and “attention seeking” for seemingly making up these invisible symptoms. Terms such as “neurotic” and “attention seeking” are commonly used against people with EDS and pose a harmful and potentially dangerous impact. Like Neale, Jane was told by her doctors and family that she was “making up” symptoms. This left Jane feeling dismissed and ignored until she finally received an EDS diagnosis. The diagnosis allowed Jane to finally seek the proper care for her syndrome. She bought a book to educate herself on the disorder and was able to seek out specialists that could treat her.


These stories reveal how a genetic diagnosis can be liberating. Many people fail to be diagnosed with EDS until their late teens or even forties. This can be extremely damaging to their mental health. People with EDS commonly suffer from depression and anxiety due to the pain they experience, along with the social stigma they feel from their invisible disorder. By feeling heard or having their experience with chronic pain reciprocated by doctors, a diagnosis offers the ability to alleviate the mental stress of living with EDS. Additionally, a diagnosis allows EDS patients to improve their quality of life. For Amanda Sperrit, receiving an EDS diagnosis in her late teens allowed her to experiment with different treatments. Sperrit has experimented with physiotherapy, cannabis, The Alexander Technique, and acupuncture to develop a multi-pronged approach to tackle various aspects of her syndrome – from the pain to her mental well-being and even her posture. So while EDS does not have a cure, it is critical that patients receive an early diagnosis to not only feel heard, but to find harmony with their condition and minimize injuries.


References:

Boh, E. (2021, April 23). Patient Story: Elizabeth Boh. Tulane Hypermobility and Ehlers-Danlos Clinic. https://hypermobilityclinic.org/ehlers-danlos-patient-story-elizabeth-boh/



The Ehlers-Danlos Society. (2023, May 19). What is EDS?. The Ehlers-Danlos Society. https://www.ehlers-danlos.com/what-is-eds/


Fisher, A. (2022, April 28). My Ehlers-Danlos diagnosis. Healthline. https://www.healthline.com/health/diagnosis-diaries-ehlers-danlos#Desperate-for-answers


Gawthrop, F., Mould, R., Sperritt, A., & Neale, F. (2007). Ehlers-Danlos syndrome. BMJ (Clinical research ed.), 335(7617), 448–450. https://doi.org/10.1136/bmj.39237.484468.80


Ishiguro, H., Yagasaki, H., & Horiuchi, Y. (2022). Ehlers-Danlos Syndrome in the Field of Psychiatry: A Review. Frontiers in psychiatry, 12, 803898. https://doi.org/10.3389/fpsyt.2021.803898


NHS. (2022, October 4). Ehlers-Danlos syndromes. NHS.uk. https://www.nhs.uk/conditions/ehlers-danlos-syndromes/


Tennant, F. (2017). Ehlers-Danlos Syndrome: An Emerging Challenge for Pain Management. Practical Pain Management, 17(7).


Versus Arthritis. (2020, May 28). Living with Ehlers-Danlos syndrome: Jane’s story. Versus Arthritis. https://www.versusarthritis.org/news/2020/may/living-with-ehlers-danlos-syndrome-jane-s-story/



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