Rare Disease Awareness

RDA Day is here!

 

A brief overview of my story -

XARHchild-image-1390791247165.jpg

I asked for help at 15 for my hip that was constant dislocating and beginning to be consistently  painful.  I went the next 19 years undiagnosed before hitting bottom and furious researching led to me requesting my confirmed diagnosis of hEDS, or the hypermobile form of the Ehlers Danlos Syndromes.  In these last 20 years I have learned to ignore my symptoms, and mask them to the public, which has led to so many other unnecessary issues including depression and anxiety.  Being misdiagnosed, or dismissed is hard enough for us, and living with an invisible illness makes the curiosity and judgment harder to deal with.  

 

On the left is "normal" standing position, on the right is what I have stod like most of my life.  If you notice my knees are hyperextended.

 On the left is "normal" standing position, on the right is what I have stod like most of my life.  If you notice my knees are hyperextended.

On the left is "normal" standing position, on the right is what I have stod like most of my life.  If you notice my knees are hyperextended.

The Ehlers Danlos Syndromes are a group of heritable connective tissue disorders, with the hypermobile form having no known genetic marker.  The hypermobile form is also largely considered the most benign on the EDS disorders, but I think the more peer reviewed studies, and information that becomes available, the more the far reaching destructive tendrils of the hypermobile form of EDS will come to light.   This, coupled with the gross negligence in research, misdiagnosis, and general information on this disorder is what categorizes it under the "rare disease" umbrella.

Think about it this way, connective tissue is the glue that holds your skin, organs, muscles, ligaments, veins, nerves  and EVERYTHING ELSE together.  My glue does not work the way it should.  

What are my symptoms?

  • Chronic pain - I mean I cannot remember a day in the last 20 plus years that did not consist of pain.  Consistent, and often debilitating pain.  This pain is usually dull and lasts all day, however I almost always have some burning nerve pain in my hands or running down my legs.
  • Chronic migraines - I had a physician consultation at the Ehlers Danlos Conference in Las Vegas in September with Dr. Mitakides who feels I have a rotational displacement somewhere in my C1, C2, C3 vertebrae which pinches my trigeminal nerve causing radiating pain up the back of my head on the left side, provokes ocular migraines in my left eye, and pain in my jaw.
  • Orthopedic/Chronic large and small joint subluxing - Subluxing is a partial dislocation.  I used to have full dislocations in both hips, but as I have gotten older they do not fully dislocate, but rather they sporadically sublux.  Depending on what activity I am performing this can be a fluid painless sublux, or it can send waves of unyielding pain throughout my body.  This mainly happens in both hips, but also happens in both knees, all of my fingers (you can see examples in the photos below), my ankles, shoulders, neck, jaw, ribs and spine.
  • Gastrointestinal issues - I have had GI issues since my earliest memories.  What I have learned through research is I most likely suffered from "functional childhood constipation," which sounds harmless, but if left uncontrolled can lead to internal muscular tears which is what happened to me creating other functional GI issues known to plague those diagnosed with hEDS.  My vitamin levels and hormones are starting to show the ill-managed results of neglecting my GI system for so long.  I am in what was referred to as "stage one of adrenal failure," and my b12, magnesium and D levels are at unhealthy levels.  I am currently being treated for SIBO at the moment after approximately 6-9 months of incessant abdominal pain and nausea.  Which means I get most of my nutrition in liquid form.  Smoothies are a spoonies best friend sometimes.
  • Cellular/Allergic reactions - I am allergic to most antibiotics, and the ones I have taken for childhood illnesses like chronic bronchitis created several microbiome issues in high school, recurring infections, skin rashes, medication intolerances and severe acne.  I do not tolerate anesthetics well (I either metabolize them too quickly - my sister did as well - they don't work at all, or the smallest dose has disproportionate effects on me).  I also had a horrible allergic reaction to the contrast dye they used to diagnose the tear in my right hip labrum last year (you know the hip I have been complaining about since high school).  I shook uncontrollably, was severely nauseated, and almost completely incoherent for the better part of 4 days after my MRI with contrast.  I also have fairly severe synthetic fragrance sensitivities (or as I like to call them "scent-sitivities") which provoke migraines with syncope (I pass out from the pain).
  • Cardiovascular/Autonomic Regulation - I have very low blood pressure, and a low heart rate.  Every once in a while my body will not recognize that my heart rate is "normally low" and it will try to "restart" my heart, sending my into what's called tachycardia.  My heart rate races, my chest hurts and my breathing becomes shallow and rapid.  I experienced the majority of these episodes before I was diagnosed with hEDS, and I was alone, mainly after working out, for most of them.  They are thoroughly disorienting, and draining.   Low heart rate, and low blood pressure also mean that if I stand up too fast I may black out.  I specifically choose yoga routines on YouTube that I can do with my eyes closed so that the blacking out of my vision when I stand does not disorient me.  This also means I need to consume more water and salt than most individuals to prevent this from happening with as much frequency as I used to.
  • Tissue fragility - While tissue and vein fragility is more of a concern in the Vascular form of EDS, I experience quite a bit of tissue fragility.  I always had very large unexplained bruising as a child, and to this day if I am not careful and slightly bump into something I will have a disproportionately large bruise for several weeks or months.  I usually have bruises on my body that I cannot identify the origin, and often will give myself thumbprint style bruises just by applying pressure to a body part while trying to investigate what is wrong.  I'm your bruised peach.
  • Neurologic and Psychiatric Issues - Aside from my consistent headaches and migraines, I have brain fog.  All of the time.  I have been trying to get to write this article since the beginning of the year, and here we are on Rare Disease Awareness Day, and I am struggling not to sound incoherent or ignorant about these things I know so well because I know how often I forget to tend to this.  I also run into things constantly, and drop things constantly.  This creates so much strife within myself.  I become angry that I cannot navigate my own home, or hold onto a cup, which creates a vicious cycle of anger and frustration from internalizing all of my struggles.  These are movement disorders, hEDS has a huge proprioceptive component.  That is because my connective tissue does not hold my joints where they should be, the signal of their location does not always make it to my brain and I cannot locate my joints or limn position in relation to my body, creating situations where I run into my hallway door, or drop a cup I just picked up. I also experience semi-frequent muscle tremors, and find myself swaying from time to time.

What do I want you to take away from this?

This is a silent, invisible, and largely misdiagnosed or underdiagnosed disease with unending symptoms, and mobility issues.  I know I look okay, but most of the time I am not.  I put on a happy face not to have to explain all of these things that most people aren't interested in anyways.  I smile so you don't have to be uncomfortable.  I push through so I can cook and be present for my family, which is an unsurmountable challenge most days of the week.  I am constantly fatigued, and ready to plop on any given pillow at any given moment.  The problem is the world is not made of pillows, or doctors who are told to learn and listen to their patients.  We live in a world where our medical system is based on symptom treatment rather that disease discovery.  Note, I'm not here to bash western medicine, it has its uses, but it is not useful for the chronically ill (at least not in my experience).  

Support where and when you can, because you never know the trials and tribulations someone holds within.  And please share your story.  Here, on your social media platforms, wherever you are comfortable.  

 

*Note:  the photos below illustrate the extensiveness of my hypermobility, and daily struggles.  These are not intended to be illustrations of maneuvers you should try yourself.  I have photographed them so that I am not asked to perform these during examinations anymore as they create microtears and injuries.  My hands may look extremely flexible, but their flexibility has easily decreased by 50% if not more since childhood.