How Can We Improve the Quality of Life for Those Living with Ehlers Danlos Syndrome?

Living with the genetic syndrome Ehlers Danlos causes measurable physical challenges and concerning psychological effects.

Ehler’s Danlos is a rare connective tissue disorder that includes six classifications and thirteen subtypes. Approximately 1 in 2,500 to 1 in 5,000 people have been diagnosed with the syndrome (Ehlers Danlos Society, 2017). With discoveries in mutatious genes and inadequate diagnostic criteria of previous studies, there are underlying needs of inquiry with medical treatment. In addition, with new developments in scientific research, revisions of EDS classifications are essential. The International Consortium on the Ehlers Danlos Syndromes has been collaborating on establishing international registries and recognition that will help create more reliable guidelines of diagnosing and managing EDS (Bloom, Byers, Francomano, Tinket & Malfait, 2017). Those living with EDS often face a multitude of adversities from the negative physical and psychological affects of the inherited syndrome.

The types and levels of severity of symptoms for those living with Ehlers Danlos syndrome vary for each diagnosis. Collagen is weak and lacking in EDS patients, affecting many vital organs and systems. Several symptoms are present in most types, including cardiac-valvular problems, chronic fatigue, gastrointestinal complications, joint hypermobility, postural orthostatic tachycardia, bruising of the skin, and more. Treatments include medicinal, surgical, or therapeutic solutions, but there is no cure for the syndrome. Patients classified with more than one type should be regularly monitored (Ehlers Danlos Society, 2017). In a study to examine the association between muscle strength and activity limitations, it was found that due to increased limitations in activity, a patient’s own proprioception is negatively impacted. The study also assessed the practices of medical professionals who provide muscle strengthening and activity-limiting coping methods, finding evidence that increasing proprioception is effective in treating EDS patients (Calders, De Vries, De Wandele, Engelbert, Malfait, Rombaut, Scheper, Van der Esch & Visser, 2016).

More women are diagnosed with Ehlers Danlos than men. Using 386 female participants, a gynecological evaluation was implemented to calculate if there were predeterminations in pregnant women diagnosed with EDS. The researchers not only found the rates of such gynecological symptoms such as dysmenorrhea and dyspareunia were higher in women diagnosed with EDS than without, but also found the rate of abortions (spontaneous or not) was also higher. Of this cohort study, 37.6% of the participants reported worsened EDS related symptoms postpartum (Becourt, Gompel, Hamonet, Hugon-Rodin & Lebegue, 2016).

An investigative study selected 33 patients diagnosed with Ehlers Danlos to determine if migraine characteristics were different from those of a control population of migraine patients. Factors to measure the affects of migraines on those with EDS included examining headache frequencies, intensities, the ages of onset, level of disability, and use of medications. The data concluded that although migraine patients experienced migraine-onset at earlier ages than EDS patients, the latter experienced more severe headaches compared to the control group. This study demonstrates the potential for high impact on the quality of life EDS patients experience (Celletti, Petolicchio, Piero, Puledda, Toscano, Vicenzini & Vigano, 2015).

Adversities are common and very influential in the treatment of Ehlers Danlos syndrome.

Because identifying the source of symptoms and appropriating the proper diagnosis can take years to develop, patients seeking medical or professional help for their symptoms often encounter negative psychological situations through health-care relationships. The memory of not being respected can be substantial for EDS patients and last for years. At a conference held by the Ehlers Danlos National Foundation, a study was used to demonstrate the long term consequences patients have endured from when their dignity was not fully upheld. Twenty-two participants were provided a questionnaire using the Visual Analogue Scale, and were also asked to write narratives detailing their experiences. The research found five major categories felt and experienced by EDS patients: being ignored and belittled by medical professionals, being assigned psychological or psychiatric explanations instead of physical explanations, being treated as an object, suspicions of family abuse, and being trespassed in one’s personal sphere. The resulting long term consequences concluded distrust in health-care professionals, risking personal health, and severe psychological effects in those living with EDS (Berglund, Mattiasson & Randers, 2010).

Understanding this syndrome is complicated and inconsistent with that of other medical diagnosis. Those diagnosed with Ehlers Danlos syndrome are referred to as “zebras” by medical professionals. Throughout medical training, the phrase, “When you hear the sound of hooves, think horses, not zebras,” is often applied. The term ‘zebra’ is used to describe the rare conditions of EDS – there is not one type of zebra with the same stripes. The effects and experiences of EDS symptoms can occur and manifest without visible explanation. The pain factor is often seen as unwarranted or is disbelieved by those with an untrained eye. Such was the case for 25 year old Jane, whose worsening onset symptoms of joint and chronic pain caused multiple dislocations resulting in the need for multiple surgeries. Jane’s employers lost faith in her abilities, resulting in Jane losing her dream job she had worked so hard to go to college for. Jane began to lose confidence in herself and her own abilities, and was unable to gain another job due to her medical diagnosis. In an effort to demonstrate and highlight the barriers EDS patients must endure, a compilation was detailed to provide insight and guidance for medical professionals who are treating patients with Ehlers Danlos. Using Jane’s story as a leading example, the article “Zebras In The Workplace” calls for vocational and therapeutic accommodations that many researchers have proven useful to help patients cope with the sometimes disabling syndrome (Hill, 2017).

The obstacles those living with Ehlers Danlos must overcome in different aspects of their lives are very real. Accepting and treating the syndrome are two separate, difficult achievements. In an in-depth case study, a 12 year old girl had already suffered multiple joint dislocations, subluxations, and instability. After seeking medical care from one facility, her symptoms began to worsen. Her complaints about pain were treated with negativity and disbelief, as injuries and family abuse were not causes of the complaints. After much frustration, the family sought out treatment from a different facility, who discovered that the joint events were related and were caused from poor connective tissue growth. The new facility was able to provide the appropriate care and treatment through using key factors: taking into account the patient’s communicated needs, the family’s overall increased involvement in medical treatment, and assessing and treating the previous medical miscare (Branson, Kaczynski, Kozlowska & Roesler, 2011).

The physical and psychological conditions of Ehlers Danlos denote a higher risk factor for poor mental health. In a nation-wide cohort study, 1,771 patients diagnosed with EDS were compared to 17,710 individuals without EDS. The risks of autism spectrum disorder, bipolar disorder, schizophrenia, attempted suicide, attention deficit (hyperactivity) disorder, and depression were all assessed across each group. The findings concluded that those diagnosed with EDS are at a genetically increased risk of being diagnosed with psychiatric disorders, as well as the siblings of those with EDS (Almqvist, Cederlöf, Larsson, Lichtenstein, Ludvigsson & Serlachius, 2016).

To effectively help and treat people with the syndrome live healthy and successful lives we need more support systems that readily accept the underlying and sometimes invisible causes of Ehlers Danlos syndrome altogether.

Rising international interest and collaboration is enabling awareness of the syndrome to grow. With increased scientific inquiry, we can continue to understand the difficulties and obstacles patients overcome in their daily lives. There is a unique opportunity for those living with Ehlers Danlos to effectively communicate with their support systems how the syndrome affects their bodies. Such is the case with Victoria Graham, who was diagnosed with the syndrome at 13. She focused her academic interests into the subject entirely and at the age of 22 was crowned Maryland’s 2017 Beauty Queen. After surviving many spinal cord complications and corrections, Graham founded the Zebra Network to continue bringing awareness about Ehlers Danlos syndrome. She uses her influential career to be a voice for those also living with the condition, being dubbed, “the beauty queen who doesn’t hide behind scars” (St. Martin, 2017). Graham and other foundations serve as necessary and vital role models who provide awareness and insight into the proper diagnosis, study, and treatment for people living with Ehlers Danlos syndrome.

Important Info

This is an approved research paper penned and submitted by Sabra Anne Snyder for ENG-1082 Academic Inquiry to Professor K. Haskins at NVU-Lyndon. Any references, quotes, or any other extrapolation from the text above should be credited accordingly, as well as the original sources themselves which are found below.

Sources

Almqvist, C., Cederlöf, M., Larsson, H., Lichtenstein, P., Ludvigsson, J. F., & Serlachius, E. (2016). Nationwide population-based cohort study of psychiatric disorders in individuals with ehlers–danlos syndrome or hypermobility syndrome and their siblings. BMC Psychiatry. 16. Retrieved from http://lsc-proxy.libraries.vsc.edu/login?url=http://search.ebscohost.com/login.aspx?direct=true&AuthType=ip,url,uid&db=psyh&AN=2016-33374-001&site=ehost-live

Becourt, S., Gompel, A., Hamonet, C., Hugon-Rodin, J., & Lebegue, G. (2016). Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study. Orphanet Journal of Rare Diseases. 11(1). Retrieved from http://link.galegroup.com.lsc-proxy.libraries.vsc.edu/apps/doc/A465627957/SCIC?u=vol_l99n&xid=6af2dd3b

Berglund, B., Mattiasson, A.C., & Randers, I. (2010). Dignity not fully upheld when seeking health care: experiences expressed by individuals suffering from ehlers-danlos syndrome. Disability and Rehabilitation. 32(1). 1-7. Retrieved from http://doi.org/10.3109/09638280903178407

Bloom, L., Byers, P., Francomano, C., Tinkle, B., & Malfait, F. (2017). The international consortium on the ehlers–danlos syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175(1). Retrieved from http://dx.doi.org/10.1002/ajmg.c.31547

Branson, J., Kaczynski, K., Kozlowska, K., & Roesler, T. (2011). Managing chronic pain in a young adolescent girl with ehlers-danlos syndrome. Harvard Review of Psychiatry. 19(5). 259-270. Retrieved from http://lsc-proxy.libraries.vsc.edu/login?url=http://search.ebscohost.com/login.aspx?direct=true&AuthType=ip,url,uid&db=pbh&AN=65433279&site=ehost-live

Calders, P., De Vries, J., De Wandele, I., Engelbert, R., Malfait, F., Rombaut, L., Scheper, M., Van der Esch, M., & Visser, B. (2016). The association between muscle strength and activity limitations in patients with hypermobility type of ehlers-danlos syndrome: the impact of proprioception. Disability and Rehabilitation. 39(14). 1391-1397. Retrieved from http://dx.doi.org/10.1080/09638288.2016.1196396

Celletti, C., Petolicchio, B., Piero, V., Puledda, F., Toscano, M., Vicenzini, E., & Viganò, A. (2015). A study of migraine characteristics in joint hypermobility syndrome a.k.a. ehlers-danlos syndrome, hypermobility type. Neurological Sciences. 36(8). Retrieved from http://lsc-proxy.libraries.vsc.edu/login?url=http://search.ebscohost.com/login.aspx?direct=true&AuthType=ip,url,uid&db=pbh&AN=108541780&site=ehost-live

Hill, J. (2017). Zebras in the workplace: vocational rehabilitation considerations for individuals with ehlers-danlos syndrome. Journal of Vocational Rehabilitation. 47(2). 197-206. Retrieved from http://lsc-proxy.libraries.vsc.edu/login?url=http://search.ebscohost.com/login.aspx?direct=true&AuthType=ip,url,uid&db=psyh&AN=2017-54868-008&site=ehost-live

St. Martin, V. (2017). Beauty queen doesn’t hide scars. The Washington Post. Retrieved from http://link.galegroup.com.lsc-proxy.libraries.vsc.edu/apps/doc/A490052994/UHIC?u=vol_l99n&xid=d32792dc

The Ehlers Danlos Society. (2018). EDS types. The Ehlers Danlos Society. Retrieved from https://www.ehlers-danlos.com/eds-types/

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