How to Diagnose Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome is an inherited connective tissue disease caused by genetically defective collagen. Collagen serves as the body's glue and scaffolding. The ligaments, tendons, veins, skin are all affected. Individuals with EDS can have loose unstable joints, fragile arteries and veins, fragile loose skin, joint dislocations and many more debilitating painful symptoms. This list will serve as a guide to find advocacy and good health care for EDS patients.

Difficulty: Easy

Instructions

1. Symptom Check
   
   Individuals are not "double jointed". The true term is hyper-mobile. If you or your doctor suspects that you are hyper-mobile or that you have extremely stretchy skin, easy bruising, freguent falls or you have a child that has delayed motor skills ask to be screened for Ehlers Danlos Syndrome. People with Ehlers-Danlos Syndrome may also present with organ rupture and internal bleeding.

2. Specialists
   
   EDS is an inherited disorder. Ask your family doctor for a referral to see an orthopedic specialist and a genetic specialist for an examination. If you are diagnosed with Ehlers Danlos Syndrome you will most likely be referred to a Rheumatologist as well.

3. Support
   
   The internet is a good source of information. The Ehlers-Danlos The The Ehlers-Danlos National Foundation has a very informative website. http://www.ednf.org
   Try to find a local support group. There are more groups every year and EDNF will help you find a group near you. If you can not find one nearby, think about starting one in your area. Support groups will help you keep up to date on the newest therapies and treatments. You will be your own advocate in your treatment which makes it all the more important to stay informed and to take information with you to pass on to your health care providers. Understand that EDS is not covered extensively in medical schools so try to be patient as you and your physician learn about your or your loved one's disorder together.

4. Physical Therapy
   
   A physical therapist that is willing to learn about your EDS symptoms is imperative. Do not be afraid to ask any health care professional about their experience in treating EDS.
   You will need to be kind to your body. Find ways to keep it strong without over stretching or overloading it. There are splints and braces. Exercises like Yoga, Pilates, Tai Chi and swimming, if recommended by your doctor, can be most helpful.

5. Pain Management
   
   You may need a pain management specialist. Doctors that specialize in pain management are very important. They will help keep you functioning at your best level.

6. Mental and emotional well being.
   
   Last but not least, a mental health professional can be helpful if pain and fatigue are causing depression. EDS patients are often labeled as hypochondriacs, lazy and unmotivated. Mental health professionals will help EDS sufferers cope and educate their friends and family about their symptoms.

Tips & Warnings

• Remember. Ehlers-Danlos Syndrome is still considered a rare disease. If you are not being heard ask for a second opinion.
• Use a medic alert bracelet.
• This article is not a substitute for medical advice. Seek the advice of a doctor before doing any of the suggestions in this article.

Resources

• Emedicine
• Hypermobility Syndrome: Diagnosis and Management for Physiotherapists (Paperback) by Rosemary J. Keer (Author), Rodney Grahame (Author)
• Ehlers Danlos National Foundation
• Medicare Long Term Care Planning Tool
• Medicare Eligability Tool
• NORD National Organization For Rare Disorders Inc.

[bethanyatg]

on 3/3/2009 There are a lot of people out there with EDS that have not been diagnosed. I was lucky enough to be diagnosed back in the early 70's. Its good to see you looking out for others that need help.

[dw628]

on 1/18/2009 I have been down this long road to a diagnoses with the author. After years of pain and a hip replacement at a younger than normal age, she began to dig deeper for answers. I hope her advice will help others find their way to a diagnosis and support.