Welcome to the Bendy Club blog! This week, we’re exploring the role of genetic testing for diagnosing HSD and EDS. Understanding the genetic components of these conditions can provide clarity and guide your path to effective management.
Why Genetic Testing Matters
Genetic testing can help identify specific types of EDS, providing a clearer picture of your condition. It can confirm a diagnosis, inform treatment options, and offer valuable information for family planning.
Types of Genetic Testing
- Clinical Diagnosis: For HSD and hEDS, diagnosis is primarily clinical, based on physical symptoms and medical history.
- Genetic Testing for Specific EDS Types: Other types of EDS, such as classical or vascular EDS, have identifiable genetic markers. Testing involves analyzing your DNA for these specific mutations. This would involve working with a geneticist that specializes in connective tissue diseases.
- Whole Exome Sequencing: This comprehensive test examines all the protein-coding regions of your genes and can identify mutations linked to various types of EDS. This would be very advanced testing and again would need to be conducted through a licensed geneticist or a physician specializing in genetic diseases.
- Home Genetic Testing – Most people have heard of home testing options like 23 and me. While lots of good data can be gained through services like these it is not the same as the genetic testing that would be conducted working with a geneticist. These services would not allow you to confirm if you have a specific condition like Classical or Vascular EDS. Despite these limitations you can use these services to learn about methylation pathways and more especially when you take the raw data and run it through 3rd party software. For those interested, we do 1 on 1 coaching to review 23 and me data. But again this would be SEPARATE from the genetic testing needed for diagnosis of specific types of EDS.
Steps to Genetic Testing
- Consult a Specialist: Start by consulting a healthcare provider with experience in HSD and EDS. A geneticist or a specialist in connective tissue disorders can guide you through the process.
- Family History: Discuss your family medical history with your provider. A detailed family history can offer clues about the genetic basis of your symptoms.
- Genetic Counseling: Before undergoing testing, genetic counseling can help you understand the potential outcomes and implications of the test results. The results of genetic testing do not just effect the person getting testing. It could have implications for family members including future children.
- Testing Process: Genetic testing usually involves a simple blood draw or saliva sample, which is then sent to a laboratory for analysis.
- Interpreting Results: Once the results are in, your healthcare provider will explain what they mean for your diagnosis and treatment plan.
Benefits and Limitations
- Benefits: Genetic testing can provide a definitive diagnosis for certain types of EDS, inform treatment decisions, and offer peace of mind.
- Limitations: Not all forms of EDS can be detected through genetic testing, particularly HSD and hEDS. These conditions are diagnosed clinically based on symptoms and physical exam findings. They are also the most common types of hypermobility meaning only a small subset of individuals will get positive results with genetic testing.
Patient Story
Emily had been experiencing joint pain, skin issues, and frequent injuries since childhood. She also experienced very stretchy and almost translucent skin. After consulting with multiple doctors, she finally consulted with a geneticist and underwent genetic testing for HSD and EDS. The test results confirmed a diagnosis of classical EDS. With this knowledge, Emily was able to receive targeted care and make informed decisions about her health and family planning.
Share Your Journey
We encourage you to share your experiences and connect with others on our social media platforms. By building a supportive community, we can help each other navigate the challenges of living with HSD and EDS.
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Ready to Take the Next Step?
For those seeking personalized guidance, our 1-on-1 coaching program offers tailored support to address your specific needs. With expert advice and a comprehensive plan, you’ll gain the tools and confidence to manage HSD and EDS and live your best life. We also can review genetic data from sites like 23 and Me to uncover possible issues with methylation pathways and more. Learn more and sign up here.
Thank you for being part of the Bendy Club. Together, we can make a difference!
Warm regards,
The Hypermobile Solutions Team
References
U.S. National Library of Medicine. Comprehensive ehlers-danlos syndrome panel – clinical genetic test – GTR – NCBI. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gtr/tests/552603/
The Ehlers-Danlos Society. Diagnostic Criteria for Ehlers-Danlos Syndromes https://www.ehlers-danlos.com/eds-types/
The Ehlers-Danlos Society. The Beighton Score https://www.ehlers-danlos.com/assessing-joint-hypermobility/
Home. The Ehlers Danlos Society. https://www.ehlers-danlos.com/
What is HSD?. The Ehlers Danlos Society. https://www.ehlers-danlos.com/what-is-hsd/
What is eds?. The Ehlers Danlos Society. https://www.ehlers-danlos.com/what-is-eds/
Jovin, D., Atwal, P., Herman, K., Block, N., Maxwell, A. J., Mitakides, J., Maitland, A. M., Saperstein, D., Hamilton, M., Schofield, J., Koby, M., Klinge, P., McElroy, A., Bluestein, L., Chopra, P., Tishler, J., Pocinki, A. G., Varga, J., Dempsey, T., … Lane, K. (2020). Disjointed: Navigating the diagnosis and management of Hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders. Hidden Stripes Publications, Inc.
Smith, C., & Wicks, D. (2017). Understanding Hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder: (previously known as Ehlers-Danlos Syndrome Hypermobility Type & Joint Hypermobility Syndrome, respectively). Redcliff-House Publications.
Cox, C. (2022). Holding it all together when you’re Hypermobile. Journey2Joy
Disclaimer
This blog is for general informational purposes only and does not constitute the practice of medicine, nursing, or other professional health care services, including the giving of medical advice, and no provider/patient relationship is formed. The use of information on this blog or materials linked from this blog is at the user’s own risk. The content of this blog is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Users should not disregard or delay in obtaining medical advice for any medical condition they may have and should seek the assistance of their health care professionals for any such conditions.