Google Ehlers-Danlos Syndrome and you will soon find yourself submerged in a world of chronic pain, joint issues, progressive disability and dense medical explanations for the multi variants of this genetic syndrome.
Or maybe, you’ll just see some cool party tricks and hear nothing of how debilitating the condition can be.
When EDS first crossed my chronic illness possibility dashboard, I was a bit overwhelmed by everything available online. What I needed was a simple way to explain this diagnosis to friends, family members and even most of my healthcare practitioners.
What I’ve come up with is an analogy to start with an easy to understand illustration of the effects of EDS on potentially any system in the body!
Tissues of a non-EDS gene carrying person is like quad-ply toilet paper. Thick, sturdy and absorbent.
Tissues of the EDS Zebra are like bargain toilet paper. Thin, weak, easily torn and leaky!
When discussing genetics, it helps to prime the conversation with something the inquisitor can grasp. Painting a clear visual of what the visible and invisible issues in EDS do help engage the mind, making the massive amount of information a little easier to digest (Pun totally intended to my fellow Zebra warriors)!
Once the visual is out of the way, everything goes down just a bit easier. This is important because EDS is going to make everything just more difficult in general. The syndrome works in complex ways too boisterous for even experienced medical professionals to comprehend.
People with Ehlers-Danlos Syndrome go undiagnosed for many years. Many receive diagnosis too late to reverse the damaging winds of time on the fragile frame of the EDS patient. Recent studies uncover a higher than once speculated prevalence of Ehlers-Danlos Subtypes amongst the population.
What’s more are variants in the gene expression, not yet identified by current testing methods, continue to morph the genetic presentation of the signs and symptoms as new generations of Medical Zebras spring into existence!
Check the Ehlers-Danlos Society’s contribution to spreading EDS Awareness during EDS Awareness Month 2016 with this video entitled #ItsOurTime
As you can see, people with Ehler Danlos Syndrome are going through a lot to get to diagnosis. My own diagnosis journey took roughly 20 years. I feel the pain in the eyes of each of these fellow Zebra Warriors in this video. It is a pain all too familiar to my own journey.
Ehlers-Danlos Syndromes are a group of genetically inherited syndromes with subsets classifications by symptom presentation, medical history, family medical history and if medically indicated, genetic testing.
Read more about the EDS Types on the Ehlers-Danlos Society Webpage.
Ehlers-Danlos is typically diagnosed by a rheumatologist, primary care physician or physical therapist. This diagnosis is optimal confirmed by a Geneticist with a genetic counseling session and if needed genetic testing.
Genetic testing is considered ideal if there is a question of Vascular Type Ehlers Danlos Syndrome due to the higher chance of morbidity due to the complications of the disease. Most types will not kill you or make you stronger…
You only learn how to live life despite suffering. #EDS
Ehlers-Danlos Syndrome is a chronic, debilitating disease. This means there’s no cure. It gets worse with time. Even if it gets better for a little while, all the while it’s working in the background in undermining processes.
The genetic defect implicated in the expression of EDS degrades the quality of collagen. Collagen is a protein in all tissues working to construct the form of the body. Without collagen, our bodies begin to come apart under stress.
The effect is most readily seen in tissues of the skin as it is very stretchy and easily torn, scarred and bruised. At a slightly more insidious angle, tissues of the musculoskeletal system commonly degrade more quickly with one being able to perform great feats of flexibility and the oddities of the double jointed body.
Suffering repeated injuries over the years leads to the progressive decline so many with Ehlers-Danlos live with everyday!
As a result, chronic joint pain and arthritis often develop early. Frequent partial and/or complete dislocations of minor and sometimes even the major joints create heavy tension on the skeleton, ligaments, tendons, joints, and muscles.
Muscle strains, sprains or both occur frequently with superficially benign activity. Injury is also related to an inappropriate awareness of the body’s positioning in time and space (aka proprioception). This most commonly manifested in clumsiness.
These outward characteristics may speak to a deeper malfunction ongoing for certain EDS types. The unluckiest of us suffer from increasingly debilitating effects of faulty collagen beyond the integumentary and musculoskeletal system.
The gastrointestinal, urinary, reproductive, respiratory, cardiovascular and neurological systems all are subject to deterioration given the right variation of the syndrome.
In these cases, ingested proteins leak thru the interstitial spaces of the body. Delayed hypersensitivity immune reactions just below detectable levels on usual laboratory work in aiding the evading diagnosis in going undetected for years to come (or as in my case, decades).
The systems set off alarms pleading for medical professionals to piece together the diagnosis! Instead, the puzzle is left scattered out over the course of a lifetime. Often, the patient is made to feel as though all their problems are psychological without medical basis.
Common Nonspecific Diagnosis Related to Ehlers-Danlos Syndrome
See a more extensive list here an original Tumblr post or below in the embedded link.
More often than not, EDSers receive harmful psychiatric diagnosis like factitious disorder and malingering. Those with chronic pain related to EDS often require more medication than the average individual to get pain relief due to genetic mutations. This compounds issues with access to care due to chronic pain bias and the need for further education regarding chronic pain in Health Care. (Read more about my experience as a Registered Nurse with chronic pain bias here)
Such a devastating disease!!!
Good thing it is so uncommon. Except it is way more common than one taught.
Unfortunately, the only common acknowledgment with Ehlers-Danlos Syndrome is many health care practitioners across the board lack up to date education, thus reducing the efficacy of care.
An EDS diagnosis and typing is based upon cardinal connective tissue disease signs and symptoms. The variant forms of expression an EDS patient displays must be cataloged and explored to further understand the complexities of this disease. This is our only hope for any advance on early diagnosis and management.
One EDSer may have super extensible skin over their whole body, while another may only have slight hyperextensibility across the skin of the chest and face.
No two Zebras share the same stripes!
For instance, my geneticist also lives with EDS. She deals with joint problems related to the flexibility, but nothing more. This differs from my type as I have lived with prolonged, distressful gastrointestinal and neurocardiogenic problems. These issues are in addition to the musculoskeletal complications haunting all my days since my early childhood.
What with the ever expanding population and the 50 percent chance of EDS being passed on to children, the population of people with varying forms of the genetic condition is rumored to be around 1 and 10 people as opposed to previous estimates of 1 in 5000 people in the population (will reference this someday when I have more spoons, until then check the EDS Society Webinars on Youtube).
Think about this, then look around your social circle.
Who fits the general criteria? I bet you’ll find more than one.
Knowledge of the presence of EDS before life takes its toll will improve the chronic illness lifers prognosis by leaps and bounds. Steps can be taken to avoid a career in which repetitive injuries are statistically more likely to occur.
Early GI dysfunction symptoms may be lessened by positive diet changes, preventing further damage and thereby delaying the sometimes inevitable need for parenteral nutrition.
Exercise to promote joint stabilization will improve pain and lessen the chance for dislocations/subluxations. Bracing and splints can help EDSers get more activity tolerance in lessening the occurrence of pain from joint issues.
There are lots of management strategies geared towards improving the Zebra’s quality of life, but without educating Healthcare Professionals these therapies remain in the fairytale category for the patient living with EDS.
Thanks for reading my explanation of Ehler-Danlos Syndrome! I hope my explanation is helpful and informative.
Thanks for helping raise awareness! It really means so much to me and all the other medical Zebras out in the world!
IMPORTANT: This blog is not a substitute for professional health care diagnosis and/or treatment of any disease. While I do have a medical degree, I am no longer practicing nursing so any information contained herein is for informational purposes only and should be discussed with a doctor educated on the subject. ALSO IMPORTANT: If you think you meet the criteria for any of the Ehler-Danlos Syndromes and your doctor is not listening to you or discounting your research, FIRE THAT DOCTOR!!! That doctor does not care about you and will waste your time. It isn’t worth it. Go with your gut
Content originally posted on Stomach-vs-Heart.com and migrated to OnlyinthisHead.com because of updates to SVH’s purpose. Read more about the changes coming to Stomach-vs-Heart here. Please subscribe here for updates to Only in this Head: Chronic Illness Life and here for updates to Stomach-vs-Heart: The Art of Survival.
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