Ehlers Danlos Syndrome Awareness Month 2018

I’ve been writing about EDS Awareness Month for quite a few years.  Even though my great readers have heard about this, most people haven’t.  Many doctors are also unaware or are poorly educated about it.  Because diagnosing it and treating it are such a problem, it’s important to keep awareness movements active.

syndrome

Ehlers Danlos Syndrome is a genetic condition that has many different types.  Recently, the list of types has been updated to include more rare types.  Here are the types:

  • Classical
  • Classical-like
  • Cardiac-valvular
  • Vascular
  • Hypermobile
  • Anthrochalasia
  • Dermatosparaxis
  • Kyphoscoliotic
  • Brittle Cornea Syndrome
  • Spondylodyplastic
  • Musculocontractural
  • Myopathic
  • Periodontal

These syndromes are a group of connective tissue disorders and can affect the body in different ways.  These can be inherited.  Some of the characteristics are hypermobile joints, skin that stretches more than normal, and frail tissue.

EDS

Testing for diagnosis includes genetic tests for all types except the hypermobile type.  I have the hypermobile type, which is very common.  I’ve had this since birth, but was only diagnosed at age 51.  From the time I first complained of symptoms to my doctor to the time of diagnosis was 13 years.

Diagnosis of EDS takes too long and many patients are dismissed or misdiagnosed before the true diagnosis is discovered.  Many years of suffering and unneeded improper treatment is the norm for EDS patients.  Many of these improper treatments can cause further pain and suffering.  This was certainly true in my case.

Like most diseases, there can be various levels of severity in EDS.  The Vascular type of EDS can cause death at a fairly young age.  This is because this type causes rupture of organs or arteries, even at a young age.

Diagnosis must be done by a Geneticist, who are often hard to see, because of lack of referrals.  If you feel like you might have a form of EDS, keep requesting a referral to be seen by a geneticist.  It took me a long time, but I didn’t give up.

To find out more about EDS, please check the Ehlers Danlos Society   Their website has everything there to help you with education, awareness, and more!

Disclaimer: I’m not a medical expert.  If you have medical concerns, please consult your personal physician.

@2018, copyright Lisa Ehrman

4 Comments

  1. I’m a new reader and I haven’t heard of this before. What kind of symptoms are there?

    • xaoti

      May 12, 2018 at 2:42 pm

      Welcome, Betty! It’s classified as a rare disease, because it’s rarely diagnosed. Some of the symptoms are: joint dislocations, pain, poor-wound healing, rupture of arteries, stretchy skin, prolapse of organs, problem pregnancies, poor healing of skin, easy bruising, and any organ can be affected. Because it’s a connective tissue disorder, it can affect any part of the body.

  2. My youngest was diagnosed with probable EDS at 3 when we went to a prediatric cardiologist to get a heat murmur looked at. Since my brother has many symptoms of EDS (even though not officially diagnosed) I was told to show a video of him doing the test for it to be officially diagnosed. I will admit I never heard of it till then and was told because of this she needs to be seen by a cardiologist every few years to make sure it isn’t affecting the heart. There is not a lot out there about it. Thank you for bringing more light to this.

    • xaoti

      July 21, 2018 at 3:12 pm

      I’m so thankful that you found a knowledgeable doctor to diagnose your child. My doctor also used my family history to diagnose me. Yes, we can have heart complications. I’ve had my first cardiology visit, and it will soon be time to do this again. Facebook has EDS groups and the Foundation also has forums to join, which help us to learn more about symptoms and treatments. My best to you and your child 🙂

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