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“She wears strength and darkness equally well; the girl has always been half goddess, half hell.”

Meet our beautiful friend Sara Geurts. Sara was chosen as the cover model for the official relaunch of Strength/Flexibility/Health/EDS – the first and ONLY digital magazine for living well with hypermobility syndromes, such as Ehlers-Danlos syndrome (EDS) and related conditions.

Sara’s story is nothing shy of inspiring and uplifting because not all forms of Ehlers-Danlos syndrome are invisible. In fact, many people who have been genetically diagnosed with other types of EDS, feel that EDS is far from invisible. They often struggle with the very visible signs suggesting that there’s something different about the way their bodies are made  — and we aren’t talking about wheelchairs, braces, or crutches. 

Sara has Classical Ehlers-Danlos syndrome (CEDS), diagnosed as a child based on visible signs that there was clearly something different about her versus other kids her age. Sarah is the perfect cover model. Her story is inspiring and brings another voice, one that is often unheard, to the reality of living with EDS.

“I’ll start out by saying I was not always comfortable or accepting of my disorder, Ehlers-Danlos syndrome, or the effects it has on my everyday life. Growing up, my family did not think there was anything specifically wrong with me, especially with it being branded as an invisible illness. I was consistently pushed to the sidelines when trying to cope and learn about the effects of Ehlers and my future with it. I was diagnosed around the age of 10 but had noticed my skin as early as the age of 7.

My sagging skin was my biggest insecurity, amongst other side effects. I would later learn this was due to the rarity of my type. As I got older, my discrepancies started to show more and more. The majority of people who had noticed assumed I had gone through some type of weight flux, which resulted in my “stretchy skin.”

To read Sara’s full story via The Mighty, go to ‘Learning to Love the Skin I’m In With Ehlers-Danlos Syndrome’

Ehlers-Danlos syndrome – Hypermobility Type (EDS-HT) may be the most common form of EDS, despite not knowing its genetic markers; however, Classical EDS comes in close 2nd behind EDS-HT. Classical EDS has identifiable genetic markers, but genetic testing for Classical EDS previously had a reliability rate of about 50%. Until recently, diagnosis of Classical Ehlers-Danlos syndrome was made clinically, by following a certain set of diagnostic criteria outlined in the 1997 EDS Nosology. Clinical diagnosis of Classical EDS has proven to be relatively sound, for the most part, especially in the absence of a reliable test.  Because of the lack of a reliable genetic test for CEDS until recently, and because the genetic cause of CEDS in some clinically diagnosed patients has yet to be determined, new genetic testing options, specifically by Ambry Labs, has proven to be a more reliable option. It’s especially helpful for those individuals whose type of EDS has remained undetermined. On the other hand, some people who have previously been diagnosed clinically with Classical EDS, some several times, have had the new genetic testing options, only for the results to come back negative for CEDS mutations. The TAADNext test by Ambry labs is said to have a 95% reliability percentage for identifying Classical EDS mutations is those who are suspected to have or have been diagnosed clinically with CEDS.

“If there is any doubt about the diagnosis, a skin biopsy may be considered to confirm or rule out the diagnosis. A skin biopsy involves a local anesthetic injection to the skin of the inner, upper part of the arm (just down from the armpit). This numbs the area, and a small piece of skin is removed. This skin is looked at under an electron microscope to see if there are changes to the structure of the collagen fibers. The changes seen in classical EDS are known as ‘collagen flowers’ or ‘cauliflower fibrils’.” (Source – EDS UK – https://ehlers-danlos.org/about-eds/types-of-eds/classical-ehlers-danlos-syndrome/)

About Classical Ehlers-Danlos syndrome (CEDS): 

“Classical EDS is a genetic condition, but genetic testing is not always needed to make a diagnosis. In fact, the genetic cause still cannot be identified for all patients with a diagnosis of classical EDS. Some people with classical EDS have an alteration in either the COL5A1 or COL5A2 genes. If a gene change can be identified then genetic testing can be offered to other family members.

The COL5A1 and COL5A2 genes are the instructions for making collagen type V. When either gene is altered it causes a lack or deficiency of this collagen. This leads to disordered packing of collagen fibres making the connective tissue less effective, particularly in the skin and joints, leading to the recognized features of classical EDS.”

Quote shared from the Ehlers-Danlos UK’s website. You can learn more by going to https://www.ehlers-danlos.org/about-eds/types-of-eds/classical-ehlers-danlos-syndrome/

Classical Ehlers-Danlos syndrome genetic mutation(s): The COL5A1 and COL5A2 genes are the instructions for making collagen type V.

“Clinical Testing – Abnormal electrophoretic mobility of the proa1(V) or proa2(V) chains of collagen type V has been detected in several but not all families with the Classical Type, although recent work may have brought molecular diagnosis rate to over 90%. The Classical Type of EDS is inherited in an autosomal dominant manner.” (Source – Ehlers-Danlos Society http://ehlers-danlos.com/classical/)

Genetic Inheritance: 

“Classical EDS is a genetic condition. It can start for the first time in someone, or be inherited from either parent. Once someone is diagnosed with classical EDS, we know there is a 50% (1 in 2) chance for any children of that person to inherit the condition. Usually, the diagnosis is apparent from a young age due to the skin fragility. Other family members may wish to be referred to their local clinical genetics department for clinical evaluation.

Our genes come in pairs, as we inherit one from our mom and one from our dad. When someone with classical EDS has children, they will pass on one copy of each gene to each of their children. So in every pregnancy, there is a 50% (1 in 2) chance of a child inheriting the altered copy of the gene and having classical EDS. There is the same chance of the child inheriting the unaltered gene copy and not having the condition. Not everyone with classical EDS will have a family history as it can start for the first time in a person. In this situation, there is still a 50% chance of it being passed on.”

Current Diagnostic Criteria: 1997 EDS Nosology (soon to be updated once research and information from the 2016 EDS International Symposium are published — expected date of March 2017)

“The clinical features to look for include:

  • Fragile skin which can split easily with minimal trauma. This leads to significant scarring usually starting from childhood. The common sites for scars are on the knees, elbows, shins, forehead and chin. The scars tend to become wide with a thin appearance often described as being ‘like tissue paper.’
  • Stretchy skin, often very stretchy! 
  • Joint hypermobility, which may cause the joints to slip out of position resulting in dislocations or subluxations, and may be associated with chronic joint pain.
  • Easy bruising, which may lead to permanent discolouration and is often visible on the shins. 
  • Fragile and extensible tissues can also result in hernias, prolapse, and cervical insufficiency.

Living with classical EDS:

One of the main issues for people with classical EDS is the fragility of their skin. The skin is prone to splitting, and the scars left from any wounds often widen over time. It is, therefore, helpful to try and protect the skin against injury and necessary to get any wounds well stitched to help reduce scarring.

These responses included:

  • Limit bare skin and wear multiple layers of clothing to increase protection and reduce the risk of abrasions.
  • Protect bruises with padding or tubular bandage to reduce the risk of the skin over the bruised area splitting.
  • Using a plain moisturizer to avoid the skin drying out.
  • Wearing shin pads, knee pads and elbow pads (as appropriate) for outdoor activities. Shin pads can be specifically made to measure by the appliance department at your local hospital, and your GP can make this referral.
  • Wear a helmet for cycling.

Other signs of classical EDS

  • Piezogenic pedal papules – fat lumps that are visible around the heel of the foot. This is due to the fat pad under the foot not being well held in place because of the weak connective tissues.
  • Molluscoid pseudotumors – fleshy lesions over elbows and knees associated with scars.
  • Subcutaneous spheroids – small hard nodules that are movable under the skin, due to fat lobules that have lost blood supply and calcified. These are commonly found on the skin over the bones of the arms and legs.
  • Whilst these are features that may help to make a diagnosis of classical EDS they are not found in everyone and are not in themselves harmful. These features may also be found in people who do not have classical EDS.”

The above information quote is shared from EDS UK. You can read more on classical Ehlers-Danlos syndrome, by going to https://ehlers-danlos.org/about-eds/types-of-eds/classical-ehlers-danlos-syndrome/

Differential Diagnosis: 

Marfan Syndrome

Loeys-Deitz Syndrome

***Director’s/Editor’s note – This post on Classical Ehlers-Danlos syndrome (CEDS), featuring Sara’s story was written several weeks ago but has not been shared until now. We were waiting to ensure that all information on CEDS contained in this post was as up-to-date as it could be, especially since the updated diagnostic guidelines for all types of Ehlers-Danlos syndrome (EDS) will be released in early 2017. However, Sarah’s story was shared on The Mighty today. And considering our new partnership with The Mighty, and the fact that we had this post featuring Sara’s story and information on Classical Ehlers-Danlos syndrome nearly finished, we felt that it was the perfect time to share both. 

On a personal note, Classical EDS was the type of EDS I was diagnosed with clinically three different times by some of our community’s top EDS specialists. As I’ve gotten older, especially the last few years, the issues with redundant skin and the insecurities that CEDS-like features and issues can raise, have been more and more prevalent in my life. When I *met* Sara earlier this year, I was drawn to her confidence and acceptance of the “skin (she’s) in” — something I was struggling with myself. Of course, I immediately reached out to her. For many of the individuals living with Classical EDS or some of the more rare, but aesthetically obvious types of EDS, Ehlers-Danlos syndrome is not always “invisible.” In fact, Classical EDS can be quite visible and is sometimes complicated by different barriers and struggles than those normally associated with Hypermobility EDS.

Each “Living with EDS” story shared, further proves just how individual each case of EDS really is. Yet, our stories unify us through an underlying link, and a common understanding — we are not alone.***

References:

‘What is Ehlers-Danlos syndrome?’

‘Joint Hypermobility, Hypermobility Syndromes and Ehlers-Danlos syndrome – Hypermobility Type’

Ehlers-Danlos syndromes: revised nosology, Villefranche, (1997)’ – https://www.ncbi.nlm.nih.gov/pubmed/9557891

‘Diagnosing Ehlers-Danlos syndrome by HSMA (2013)’http://hypermobility.org/help-advice/hypermobility-syndromes/criteria-for-eds/

‘Classical Ehlers-Danlos syndrome’ by EDS UKhttps://ehlers-danlos.org/about-eds/types-of-eds/classical-ehlers-danlos-syndrome/

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type (2010)’ – http://www.nature.com/gim/journal/v12/n10/full/gim2010100a.html

‘Ehlers-Danlos Syndrome, Classic Type (2007)’ http://www.nature.com/gim/journal/v12/n10/full/gim2010100a.html