Ehler’s Danlos, EDS for short, is a genetic connective tissue disorder caused through abnormalities in the body’s processing, production, and or integral structure of collagen(Mayo Clinic, 2017). Ehler’s Danlos is what numerous call chronic and degenerative; a patient may endure this particular condition with no hope for a cure throughout their entire life, as the disease rapidly progresses. Most diagnoses face a lifelong commitment to the syndrome and pains that plagues them. This is independent on whether a proper diagnosis is initially given, which is sadly often untrue. According to various past studies, approximately 55.1% of children with EDS are reportedly undiagnosed or potentially worse, misdiagnosed, per year in America (Stern, et
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It is often a mystery on what precise genes cause EDS since little is known about the syndrome and its many subtypes. EDS is rare; its most common subtype hEDS is identified in 1 in every 5,000 individuals through a dominant gene while vascular subtype is only found in 1 out of 20,000 through recessive genes(Stern, et al. 2017 and John Hopkins, 2017). According to a study at Johns Hopkins University School of Medicine, each child of an individual with hyper-mobility EDS has an approximate 50% chance of inheriting the disorder since responsible gene and pathogenic variants are currently unidentified. This disables prenatal testing and gene testing since there is no specific gene to identify (Howard, 2016). With the etiology of the syndrome widely unknown, proper detection is difficult, as is the base being tested against for genetic similarities. If more individuals with EDS, of all subtypes, are globally compared, this can lead to phenomenal identifying results that relate subjects to one another. Yet testing is expensive and is a leading cause in why genetic testing is a last resort for most, especially recessive types that are unaware they carry a known gene. While some argue genetic testing is more accessible than ever, most insurance companies do not cover it, hence making such testing a privilege for the wealthy. As of 2017, most insurers according to Genetics Home Reference are willing to cover costs of genetic testing if strongly advised by a physician for medical purpose with strong medical reasoning. Yet it is also warned against as, depending on state privacy laws, the results of genetic testing may be shared with insurance. If a disease is considered pre-existing due to genetic variances, insurance coverage may lessen (U.S. National Library of Medicine, 2017) Yet without genetic testing, diagnosis for even the most trained physicians becomes difficult. For some subdivisions of
It is often a mystery on what precise genes cause EDS since little is known about the syndrome and its many subtypes. EDS is rare; its most common subtype hEDS is identified in 1 in every 5,000 individuals through a dominant gene while vascular subtype is only found in 1 out of 20,000 through recessive genes(Stern, et al. 2017 and John Hopkins, 2017). According to a study at Johns Hopkins University School of Medicine, each child of an individual with hyper-mobility EDS has an approximate 50% chance of inheriting the disorder since responsible gene and pathogenic variants are currently unidentified. This disables prenatal testing and gene testing since there is no specific gene to identify (Howard, 2016). With the etiology of the syndrome widely unknown, proper detection is difficult, as is the base being tested against for genetic similarities. If more individuals with EDS, of all subtypes, are globally compared, this can lead to phenomenal identifying results that relate subjects to one another. Yet testing is expensive and is a leading cause in why genetic testing is a last resort for most, especially recessive types that are unaware they carry a known gene. While some argue genetic testing is more accessible than ever, most insurance companies do not cover it, hence making such testing a privilege for the wealthy. As of 2017, most insurers according to Genetics Home Reference are willing to cover costs of genetic testing if strongly advised by a physician for medical purpose with strong medical reasoning. Yet it is also warned against as, depending on state privacy laws, the results of genetic testing may be shared with insurance. If a disease is considered pre-existing due to genetic variances, insurance coverage may lessen (U.S. National Library of Medicine, 2017) Yet without genetic testing, diagnosis for even the most trained physicians becomes difficult. For some subdivisions of