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Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders caused by different defects in collagen. People with EDS primarily have problems with their skin, muscles, skeleton and blood vessels. There are several types of EDS, and people with different types exhibit different symptoms and severity of symptoms in these body systems.
Prior to a visit, the doctor will review your records. At the visit, she will discuss your records with you, take a detailed medical history and family history, and perform a general physical exam in addition to an exam targeted towards the diagnosis of EDS. She will then discuss testing options, if indicated.
Dr. Samanich will perform a physical examination, which may be diagnostic for some people with certain types of EDS. You may also need to have a saliva or blood test for your evaluation. These tests are not performed at the doctor's visit, so that prior authorization can be performed and you will know if you will have an out of pocket expense.
Living with Ehlers-Danlos syndrome can be challenging physically, mentally, emotionally, and financially. Many people go for years without a diagnosis, becoming frustrated and feeling lost. Recent guidelines provide helpful tools, for diagnosing, or ruling out, EDS. For many people, with a comprehensive history, physical exam and genetic testing, we are able to provide either confirmation of a diagnosis of EDS, or conclude that EDS is not the etiology of a person's symptoms. However,for some people, diagnosis remains unclear.
Thanks to the work of researchers and scientists, including The International Consortium on Ehlers-Danlos syndromes & Hypermobilty Spectrum Disorders , we are learning more and more about these disorders. Knowing if you have EDS can be helpful in monitoring for a healthy future, targeting treatments, counseling family members who could also have EDS, and becoming eligible for clinical treatment trials. Finding a diagnosis also ends the diagnostic odyssey on which many embark, providing relief and validation.