Ehlers-Danlos Syndrome: My Journey to Genetics

My diagnosis of Ehlers-Danlos Syndrome (EDS) took a very long or short time depending on the perspective.

While all my signs and symptoms tell the tale, my ability to persevere in spite of great challenges along with the ignorance of my local medical community resulted in a 16-year battle, at times desperately seeking a reason behind all the whack-a-mole symptoms my practitioners were chalking up as idiopathic
Figuring out I have EDS and getting my physicians to listen is one of my greatest accomplishments as yet on my chronic illness journey.

Although, the hoofbeats were obviously Zebra quality, without a geneticist’s diagnosis there wasn’t a proverbial leg to stand on in getting access to care nor with my disability case.

I am only thirty-something. Insurance companies deny claims for referrals unless there is documented proof of the condition for which a treatment or evaluation is being ordered to address. The powers that be grow stricter every day on what officiates necessity based on the narrow criterion lacking updated research on many of the not so visible disabilities. Insurance companies impose stringent criteria, creating a slippery slope leaving some patients out to dry on answers, appropriate care and follow ups.  

Getting the EDS stamp of approval from genetics is often the difference between open and closed access to treatments, therapies, and medications EDSers need for improved quality of life cognizant of the potential and probability of progressive and sometimes rapid deterioration seen in many instances of this disease process. 

In my case of Ehlers-Danlos Syndrome, it felt at times impossible to get a physician to acknowledge my case. No specific markers in general laboratory workups to point to this “rare” genetic disease. A great majority of practitioners only receive a brief description of EDS in medical school. They only understand EDS in the most extreme form and disregard the less obvious cases. To make matters worse, Ehlers-Danlos patients are often misdiagnosed with psychosomatic or malingering type diagnosis, permanently damaging the patient’s credibility as an active member of their healthcare team. 

Somehow, I found my way to genetics within one year of determining Ehlers-Danlos Syndrome was the diagnosis behind my dozens of non-specific “idiopathic” diagnoses. Some of it was the grace of higher power. Some of it was advice and knowledge obtained researching Ehlers-Danlos Syndrome blogs online for stories I could see my own reflection within. Most importantly, some of it was me finally standing up for myself to stop the neglect brought on by poor primary care experiences in the past.  I share this story for the undiagnosed medical Zebras out there as a beacon from the land of official diagnosis. 

May my Zebra tale light your way <3

Original artwork by the author of Stomach-vs-Heart: The Art of Survival including 6 Zebras of different sizes congregating. The background of the photo is soft floral colors. The text is purple and fancy reading: Ehlers-Danlos Syndrome: My Journey to Genetics Another Zebra Tale from Stomach-vs-Heart: The Art of Survival
Original artwork by the author of Stomach-vs-Heart: The Art of Survival including 6 Zebras of different sizes congregating. The background of the photo is soft floral colors. The text is purple and fancy reading: Ehlers-Danlos Syndrome: My Journey to Genetics Another Zebra Tale from Stomach-vs-Heart: The Art of Survival

It Started as a Work Injury

The last time I worked was well over a year ago. Twas the night shift I saw my nursing career crumble along with my body. The night I will forever remember.
I worked on a skilled and continuous care unit.  That evening, I was the only RN for 54 patients and we were also short staffed on LPNs and CNAs. It was one of those dreadful nights in healthcare when you arrive for your night shift and the unit is reminiscent of a war zone. Day shift looked desperately to oncoming night-shift staff, eager to give shift report and escape the day’s madness.

Shift report took 45 minutes, orders were still rolling in and blood and IVs were scheduled for the night so I hit the ground running. Luckily, the few staff on that evening were strong, seasoned providers and for the most part,  it was going well despite the chaos. I checked items off my to-do list while managing the unexpected issues as needed.

Finally, I was able to sit at the charge desk to start working on my nightly documentation duties when I heard a bed alarm go off down the hall. I got up to check the alarm and it was coming from the end of the wing. The ancillary staff members were busy elsewhere on the unit, so I did what any good nurse would do and followed the sound of the alarm.

The Fall to End It All

I saw a tall patient emerge from the room.
Shuffling unsteadily at a slow pace  into the hallway, the patient was clearly confused and at high risk for a fall any second. 

I hastened my pace to meet the patient before the fall risk became a fall reality

With calm instruction, I got the patient turned around and headed back to the room. I walked alongside as a support, helping the patient safely ambulate as my nurse’s training taught me years ago. Things were going okay the first few feet until the patient began leaning to the right. I attempted to support the lean but I was no match for the large, 300-pound frame.

I collapsed under the patient’s weight and we both fell to the floor. 

The patient landed in my lap with my legs twisted beneath me. Pain ripped throughout my neck, back, and hips. My adrenaline was high and I couldn’t accurately estimate the extent of the damage done. The night went downhill from there as full chaos ensued. I didn’t go for medical evaluation at the time for a number of reasons, but mostly because I underestimated the extent of my injuries and overestimated the priority of my nursing duties over my own well-being. I struggled to get through the night, but took a larger Ibuprofen dose and somehow made it through until morning.

Completely exhausted with pain and the toils of my shift, I went home, took another mega-dose Ibuprofen dose along with a hefty dose of Valerian Root to relax my strained muscles. I proceeded to sleep for the next 24 hours.

When I awoke, I couldn’t move.

The pain was so intense. I knew something was definitely wrong!

I mentally chastised myself up for not going to the ER right away. I spent the next couple days in bed, hoping rest would heal my wounds but when it came to the third day when I was supposed to go back to work, I called off my shift and let my boss know I’d be filing a comp claim because I still could barely move. I began to realize my injuries were beyond a simple muscle sprain or strain. My hip hurt terrible, weight bearing on that leg became impossible without excruciating pain and my shoulders and neck locked up with every attempt at normal range of motion. 

Go Ahead! Add Some Insult to my Injury!

The next day I went for an evaluation at my job’s corporate health department. The doctor ordered x-rays and put me off for work for four weeks. He ordered physical therapy to treat my muscle “strain.” Nevertheless, each week passed by with only more evidence of serious, ongoing damage and increasing pain with further debility. The physical therapist and the corporate health doctor continually remarked on my flexibility despite my injuries. After a few weeks the comments on how my injuries should’ve healed within this time began. 
My x-rays showed straightening of my thoracic spine, reversal of my cervical spine and my left hip being higher than the right,  The doctor recommended an MRI and more specialized physical therapy. As soon as those orders went out, the compensation department quickly  denied my claim. 

I was left without insurance from my job, nor coverage and/or compensation to recover from my injuries. Things only got worse as many of my chronic symptoms came out of remission into full flare in response to the stress and inflammation from the injury. 

The key phrase in my denial letter was “connective tissue disease.”

This non-specific, diagnostic umbrella of a term was behind the reasons why my injury was not healing as it should.

This is why compensation only took responsibility for 1 month of my lost pay from the injuries but no more.

It was no surprise to me there was a much more clandestine process at work beyond the general diagnoses of arthritis, scoliosis, IBS, depression and anxiety. On the contrary, I was astonished how quickly the corporate health physician was able to determine what type of disease process I was dealing with as I’d spent the previous 16 years trying to get my physicians to figure out what exactly the problem was to no avail! 

My Latest Decline

I was sick all the time but never could get any doctor to piece my puzzle together into the global diagnosis Ehlers-Danlos now provides. It took this catastrophic event of losing my ability to work for me to have a platform to work from in getting a primary practitioner to listen to me. Despite several lengthy hospital admissions over the course of ten years, genetics were never suggested by any of my practitioners. I gave up on doctors for several years because they offered no answers or help I couldn’t curate on my own. I managed symptoms using a natural, holistic approach… and at times, sheer denial.
Over the course of my lifetime of living with a chronic, unnamed illness, I learned to internalize pain and distress. This system of defense comes with a hefty price when used too often for too long to cope with chronic disease. Societal expectations, invalidation from medical practitioners without appropriate consideration to rare disease processes and my tendency to think pain was a part of life worked in tandem and tore down my defenses.

Nevertheless, the art of survival is to continue, even thru most strenuous of circumstance and that’s what I always do. 

My system went into yet another serious failure to thrive mode. This time, instead of just losing a little weight and spending a few weeks on IV nutrition, I went from walking to using a wheelchair and lost almost 40 pounds in 10 months time. Standing became exhausting as my heart raced upwards towards the 200s with any position change.  My GI symptoms came out of remission with full force and maintaining my weight turned into an impossible dream. My long-term neurosensory issues worsened and new symptoms began appearing.

I tumbled down the chronic fatigue and muscle deconditioning paradox.

I couldn’t manage my disease process on my own anymore. With the denial of my workman’s compensation claim, I needed to find a doctor to help me quantify my chronic disability case with updated testing and officially channeled diagnostics. My spirit fought the idea of filing for disability years ago when someone suggested the possibility I would always be sick. Almost ten years later I see this is true and I’m tired of fighting.

It’s more about accepting this process and adapting accordingly.

Nowadays my energy is better spent enjoying life rather than fighting my disease. EDS works in a wide variety of ways under the pressure of heredity, environmental, interpersonal, and psychosocial stressors. My story is inundated with unusual stressors and traumas in all these areas. My chosen career field turned out damaging to my already unstable musculoskeletal system while no less exhausting me with work stressors taking more of a toll on me than I could observe it taking on my peers. 

Basically,  I really should’ve seen all this coming. I never thought my life’s story would include filing for disability at 34-years-old. Ten years ago when my system first went haywire, I never even imaged the possibility I could one day be disabled. Working was always a struggle because of my health but the reality of my declines and symptom flares never seemed serious until I couldn’t push myself to work any longer. I grieved my nursing career and let that door close shut for once and for all.  

Back into the System

I scheduled with a new primary physician in hopes of getting my “connective tissue disease” diagnosed. I secretly hoped to at least to get it ruled out so I could further pursue compensation. Walking safely met using a cane. Working outside of the house or at any set amount of time proved impossible as each one of my systems starting to send off alarms of malfunction. I focused on finding ways to make an income from home and putting my medical team back together. 
For once, I slowed down to heed the warnings.

I collected all my medical records, prepared for the appointment and the many appointments to come.

My records were scattered between 3 different hospitals, 2 different general practitioner’s offices and across 2 States. Gathering and reviewing my records was no less painful than it was exhausting, with enough records to fill two large, three-ring, binders. My chronic illness struggle is well documented despite the years I avoided the system. The full picture of my years battling an invisible disease process was easy to see only in retrospect. As a medical professional, it was clear to me; however, little did I realize how difficult it would be to find a doctor to provide appropriate diagnostics and treatment. 

For some reason, local physicians still diagnosis many chronic symptoms as idiopathic or psychiatric. This is not only a dangerous practice but also a damaging process to endure. Invalidating the experience of the chronically ill in this way deflects important attention away from the core problem. After working within this system as a nurse, I fear it more than the legions of hell. Psychiatric conditions are real and important to diagnose and treat appropriately but more often than not these diagnoses become barriers to medical care and used against the patient as the primary reason for physical distress.


Archaic and corrupt is this type of “Healthcare.”

Undertreated, underdiagnosed and unrecognized.

That is the theme of TOO MANY stories across the chronic illness communities of the interwebs. 
As a former psychiatric nurse, I was gravely aware of the stigma attached to chronic illnesses like EDS, fibromyalgia, chronic fatigue and even multiple sclerosis. I heard the judgments of fellow practitioners and was subjected to those judgments when I was still actively practicing despite my frequent flares of illness.

Those with chronic, physical illness stuck in the mental health system are often subjected to psychologically abusive practices like withholding of appropriate referrals and testing. Many healthcare workers make inappropriate assumptions about people living in chronic pain or with chronic fatigue. Please check out my article Regarding Chronic Illness and the Unproductive Perspectives in Healthcare Professionals for more on my experiences as a chronically ill, psychiatric nurse learning to practice despite the harmful bias and negativity culture propagated in health care. We must refute this stigma and bias. The damaging reality created when society mistreats its most vulnerable populations is when society is truly at its worse. Somehow I avoided getting caught in that web, but it was a narrow escape as you will see.

We must refute this stigma and bias. The damaging reality created when society undervalues its most unprotected populations is when society is truly closing in on its demise. Somehow I avoided getting caught in that web, but it was a narrow escape as you will see.

My extensive records forewarned of something looming inside me that would tear me down little by little, bit by bit. Reviewing my records from the previous 10 years revealed a correlation with anytime I was stressed, tired, sick or in any way overextended on energy, my systems went into shut-down mode.

I often ended up inpatient or treated in the emergency for these flares.

Review of my records from the previous 10 years revealed abnormalities in my testing never reported to me or referred for follow-up. I discovered there were cysts on my ovaries, liver, and lung. Many abnormal labs pointing towards a connective tissue disease and possibly autoimmune problem. One report said my pancreas was “small and atrophic” for someone of such a “young” age. Finding out all this new information just before the appointment with my new primary made me determined to make this primary work for me and my case. I organized my records chronologically and typed up a professional summary of my medical history for the appointment. 

First Appointment? More Like Total Disappointment.

I left the office in tears. I spent all that time and effort gathering my medical records, preparing a nice summary of my medical data and the jerk didn’t even bother to look at any of it.
He was pompous and dismissed most of my concerns. The appointment turned out to be everything I was afraid of it becoming. 

He asked me “How do you feel about all these issues you’re having?”

I looked at him and said with a tremble in my voice “I feel sad! I feel sad I can no longer do the things I used to because of my all these physical problems.

He chuckled.

I wondered to myself if people like him even have a soul. 

Condescendingly, he said “You know, anxiety and depression often require lifelong treatment. I think this is more the issue, but I’ll go ahead and order some labs to check if you’ve got an autoimmune problem. I am sure it will be fine. What you really need to work on is your depression.”

Knife.In. Heart. Turning and Twisting.

This is NOT what I came to this doctor for! I wanted help with my musculoskeletal injuries from work and appropriate referral for this “connective tissue disease” preventing me from collecting full compensation for my nursing career in ruins from just doing my job. My depression and anxiety were managing quite well until this latest decline. These stressors were beyond my control and despite the losses, I felt I was doing very well from a psychological standpoint. 
I began to question if I accidentally stepped into some sort of weird, alternate universe where doctors have no idea what they are doing because ordering imaging studies and orthopedic consults for my injuries was the most obvious interventions at the time.  Nevertheless, this doctor put this concern on the back burner stating something about a dorsal rhizotomy someday.

At this point in my journey, although I was realistic in filing for disability, there was still a part of me holding on to  being “fixable.” This appointment was supposed to go a certain way for the best outcome for my case and instead I was forced to face the harsh reality that is having a chronic, invisible and undiagnosed disease.

My spirit was horribly battered in that 15-minute appointment. I felt guilty for even trying to get help and for still being in pain and limited by my injuries. I completed the lab work in hopes something definitive would result so I could get the help I needed to recover or at least stop the ongoing damage.

Because it would not be Chronic Illness Life with Ehlers-Danlos Syndrome™ if these test results didn’t come back normal, all the testing he ordered came back really normal.  At first glance, you’d think I was the picture of health if only referencing my labs. However, in comparison to previous years, my labs show a more distinct pattern of decline.

My pancreatic and liver function tests show declining function. Hematology shows an underlying macrocytic anemia and eosinophilia few practitioners will comment on. In recent years, my kidney function tests are beginning to show signs of damage.  Then there is the business of my small bowel telescoping itself in such a way that my nutrients are not being absorbed. These are just a few examples. 

“Normal” lab values are the fatal flaw of the healthcare system as the individual homeostasis of the body does not care about ranges. What is normal for the person of average height, weight, and metabolism are much different for me who is short and underweight with a lightning speed metabolism. Alas, these relatively “normal labs” would not help me out with the dismissive nature of my new primary care physician.

I Look Like Steven Tyler

The picture of my face I showed the doctor to illustrate the asymmetry that is often, but not always present between my left and right sides of my face. The doctor asked me if anyone ever told me I looked like Steven Tyler.
The picture I showed the doctor to illustrate the asymmetry that is often, but not always present between my left and right sides of my face. The doctor asked me if anyone ever told me I looked like Steven Tyler.
A much healthier me circa 2012 before my latest decline in 2015.[Image description: Author of Stomach-vs-Heart standing on one leg in a dance pose. She has long brown hair, tan skin and she is a healthy weight. She is smiling]
About a month later, my decline was worse still with hair loss, increasing pain inside and out, increasing neurological problems with completely new, scary symptoms, weight loss and GI distress ongoing.
The decline continued spiraling as did my ability to ward it off with my usual organic, vegan eating and yoga positivity practices. I watched my energy reserves dwindle as I became weaker each day.  For the next appointment, I brought along my hubs for backup. 

If I was going to leave this office crying again, at least I would not be alone this time.

Although confident about this appointment, I rationalized I was overwhelmed at the first appointment and would not be so easily rattled this time. If only I could change the doctor’s mind about my depression and anxiety being the priority of my case, things could start going in the right direction.

I felt an urgency to make sure he understood my depression was well managed despite my physical complaints. Armed with all my data, records, and backup defense system, I reported all the issues to the doctor with confidence and proper terminology. 

Smugly, he reported my “normal” labs. I showed him my “sick” pictures (a sad collection of selfies I began taking in January of 2015 after noting the left side of my face appeared to droop). I included a comparison photo of myself a year prior to this time and “now” shot  illustrate the difference. 

He commented on how my “now” photo resembled Steven Tyler of Aerosmith.  He declined to speculate what was causing my facial dropping and trailed off on some self-absorbed storytime.

I declined to pay attention to the nonsensical BS. 

Steven Tyler from the popular American rock band Aerosmith. Steven Tyler isn’t amused at my doctor’s comparison either!

 Endings are not Always Happy

He skimmed over my list of symptoms and said a neuropsychiatric referral would be helpful because of my cognitive issues. He slowly explained the difference between psych and neuro psych, emphasizing his belief I may be experiencing some sort of neurological disorder. I knew the difference but humored him because you must do that sometimes to survive.
I accepted this as he was not willing to tackle any of my other issues at the time and this was better than nothing. I waited to hear from his office for a month before I got a call from the local child psychologists office reminding me of my upcoming appointment.

Apparently, my insurance would not pay for a neuropsychiatric referral but only a psychological evaluation. Not only was his office horrible at notifying patients of appointments made on their behalf, but also at the referral process.

I was frustrated. The doctor I was referred to is an infamously worthless practitioner. What’s more is a conflict of interest existed as I also worked with him when I was a nurse in children’s psych. There was no way I was going to this man for any type of anything!

I knew my symptoms were neurological. I was a nurse for 8 years for goodness sakes! I called my primary’s office and told them I needed a different referral. I wasn’t going to take this treatment without a protest!The reasoning was absurd. This was even more insulting as I know how state insurance works from years of dealing with it as a case manager nurse. I told the nurse I was losing faith in their ability to help me because obviously if they’d written the request for neuropsychiatric evaluation RIGHT, the insurance company wouldn’t have denied it.

I went on to name off my symptoms calling for a neuropsychiatric evaluation.

Things like loss of consonants and nouns, sudden stuttering and prosopagnosia warrant medical investigation before ever considering psychological interventions.

I informed the nurse I planned to discuss this matter with my husband and I would get back to the office on whether I would continue care with this practice or not. 

The nurse scoffed and hung up on me as if I’d been ridiculous.

I got a letter a few days letter dismissing me from the practice. This was ok, the plan was to find a new doctor anyway.

Let’s Play a Diagnostic Game

At this time, my best guess for my invisible, mystery illness was Lupus.
[Image description: close up of a caucasian face with a red rash over the bridge of the nose and cheeks making the shape of the infamous butterfly rash of Lupus] image credit: Medscape
Lupus, being an autoimmune disorder involving connective tissues seemed to fit the bill as many of my symptoms were Lupus-like (joint pains, rashes and sores on my face, Shaw’s sign)  Even though I  am ANA-negative (the end all and be all for lupus diagnosis for most clinicians), I still question the possibility of an ANA-negative Lupus diagnosis comorbid to my Ehlers-Danlos case. 

After all, EDS and autoimmune disease are often close bedfellows.

Getting a doctor to agree to the possibility and order further evaluation was like pulling teeth. The symptoms were very similar to mine and my maternal lineage but didn’t quite add up. Surely someone would have had a positive ANA at some point in the history. I continued to sort through the possibilities in the arena of  connective tissue disease and suddenly Ehlers-Danlos Syndrome popped up and my limbic system fired up  with a memory flashback from several years previous.

A friend, and coincidently Medical Zebra with Multiple Sclerosis, told me at 30-years old to investigate a possible EDS diagnosis what with my weird and dramatic gastrointestinal issues. She showed me how she scored on the Beighton score and explained this as part of the diagnosis.  Even though I had the same stretchy skin, flexibility, deep and severe stria  and the associated diagnoses included IBS and Sphincter of Oddi, I never thought about it again until this momentary memory flashback.  

Sadly, I think I blew it off subconsciously as I was too naive at the time to question the proclaimed infinite wisdom of my physicians.

The EDS suggestion faded away as quickly as it came as my mind went into full denial mode over the years I struggled to be well.

Motivated by this recollection, I began researching EDS types, incidence, and prevalence. I read thru countless scholarly articles, message boards and connected with others going through interestingly similar circumstances. The more I learned, the more I wanted to cry from the rooftops, “Eureka! I’ve found it!”  

Finally, it all made sense. My own suffering and the suffering of my mother’s side of the family finally was connected to the root cause with the discovery of a Chiari malformation uncovered in the family history.

The bad backs, stretchy skin, fatigue, musculoskeletal pain, severe gynecological and gastrointestinal problems scattered throughout mine and maternal family’s histories were all a part of the same monster.

In my research, I found grand validation for the evidence of the Ehlers-Danlos gene in my bloodline.

This was it.

Undoubtedly, this was the answer to the question countless physicians and specialists were never able to answer until posited. 

I made an appointment with my former primary from one of my first serious hospitalizations. The last time I met with this doctor was in 2005, but he was my best bet in getting a physician to understand the whole picture of my illness. Moreover, he wasn’t a fan of psychiatry so I felt safe to express my physical issues without fear of being written off as psychosomatic. This physician also cared for many of my older family members.  This also kept me from having to start all over with yet another doctor. My parting ways with this physician in the past was only due to insurance changes, so it was no problem to go back.  

I presented this doctor with all of my medical records since I’d last seen him in 2005 as well as a typed list of my chief complaints. I provided a printed table of my symptoms and history compared to EDS, Lupus and Polymyalgia Rheumatica (casually suggested by ER physician). He agreed there was definitely some sort of connective tissue problem at work but he wanted to rule out a few more things first before settling on a diagnosis.

The Issues is in My Tissues, Not My Blood!

He checked my immunological function and tested for Lyme’s disease with Western Blot. My Lyme antibodies were borderline/unequivocal. An asymptomatic strep infection showed up. My vitamin levels for deficiencies were in the low range of normal, which was surprising with my poor nutritional intake due to nausea and evidenced by my continued weight loss. He was still questioning what pathology was causing my dysautonomic symptoms and inability to maintain weight.
I reminded him that this is common phenomena for certain folks in the Ehlers-Danlos Syndrome community. He agreed Ehlers-Danlos was one of my issues but continued to press more could be at work. He was probably right in retrospect but at the time it was frustrating knowing in order to have the official diagnosis to build my disability case upon I needed to see the appropriate specialists. This doctor simply ignored these requests and continued ordering tests to better define what mechanisms were behind my sudden, severe decline. 

Always remember with Ehlers-Danlos Syndrome, the issue is in the tissues, not the blood.

EDS doesn’t show up on routine labs specifically but the effects do! By the time EDS evidence shows up in blood work the tissues may be so badly damaged beyond the point of control. Managing EDS related issues with less aggressive measures won’t work at this stage. Get ready for the big guns. 

By the time EDS evidence shows up in blood work the tissues may be so badly damaged to the point of no return. Managing EDS related issues with less aggressive measures won’t work at this stage. Get ready for the big guns. 

So with no other obvious diagnosis found, my doctor agreed the Ehlers-Danlos diagnosis was appropriate and likely the cause, in one way or another for my worsening musculoskeletal problems and active dysautonomia.

At this point, I was going blind up for 10-15 seconds at a time sometimes as many as 30 times a day with standing because of the tachycardia and deoxygenation. He still didn’t write for the appropriate referrals but promised to work with my pharmacy to compound a medication to help control my autonomic nervous system dysfunction. While waiting on this to take place, I saw my gastroenterologist in Pittsburgh and local cardiologist as I was already established as a patient with these practices and could go without consulting my primary physician. My hope was one of them would make the referral for genetics or at least rheumatology. 

From my research, I knew this was POTS but I also knew only a cardiologist could provide the diagnostic orders for a definitive POTS diagnosis to compliment my unofficial EDS label. My episodes were also frightening to my family and myself as they often resembled small seizures and were getting worse every day. I was seeking symptom management  because it was making it even more difficult for me to get around the house, let alone be productive or go places. My activity tolerance dwindled to that of a 90-year old end-stage COPD patient. So is the condition known as POTS.

The medication my primary care doctor wanted to use to control my dysautonomia was called Bellergal Spacetabs. Apparently, this medication is no longer available in trade name form and must be compounded by special order. When first marketed it was used to treat menopause and nervous tension. This was taking some time and after 6 weeks of being stuck in bed because my symptoms were so bad, I was doubting if it was even going to happen.

I visited my cardiologist about my worsening POTS symptoms. He had no idea what POTS was, but the EKG in office showed my issues with orthostatic tachycardia clearly. I provided him with a print out of my pulse and blood pressure measurements I’d taken over the course of the previous month. He said with conviction, this must be endocrine or nutritional. I further explained the connection of POTS with my new diagnosis of Ehlers-Danlos Syndrome but I doubt he was listening as he was already focused on typing orders as he said his peace on the matter. 

He prescribed me Digoxin for what he called a “tachycardia arrhythmia.” He urged me to ask my primary to determine the cause of my dysautonomia because, like he told me when I went into acute kidney failure at 33-years old, he didn’t want to do a heart catheterization on someone so young

I waited several more weeks for my primary to get the compounded medication ordered before I decided to take the Digoxin.

From my research on the treatment of POTS-related to EDS, management of the associated tachycardia with digoxin was not only inappropriate but borderline dangerous. Nonetheless, I was in a pickle to find relief for my constantly racing heart.

I thought if it did mess me up maybe it would get me to the specialist I needed to get a good medical team to manage what I could already foresee on the horizon.

Chronic Crisis

The problems started within two weeks of starting the medication. Digoxin made no improvement to my issues with tachycardia. In fact, there were times I measured my pulse and it would go to 32 beats per minute suddenly with no postural change. My neurological issues worsened as I started seeing green, yellow and blue hues everywhere. My fatigue was worse than ever and I began having shortness of breath just from rolling over in bed. 
Finally one morning I awoke to horrible chest pain and shortness of breath. I got up to the bathroom, losing my vision multiple times. I checked my heart rate and oxygen level because I always check my vitals before making a trip to the ER. My heart was 180 when standing, but 35 when laying down and my oxygen was dangerously low at 85%. I felt terrible and was hearing strange ethereal music all throughout this episode. I woke up my hubs and we headed to the emergency right away.

Another long hospital admission to add to the tale.

At the ER I know I must’ve looked really bad because I’ve been there a thousand times but never once met with such urgency to get me on the monitor and oxygen. My vitals told the same story as my home measurements. Soon they were getting all sorts of labs, x-rays, and other tests. The nurse brought in an aspirin, Nitroglycerin and placed an IV in my arms and started fluids. Within ten minutes the resident doctor came in to tell me I was going to be admitted.

As stated, my history with hospital admissions is pretty thick. This was yet another 3-week stay in which myself and my family were frightened for my wellbeing. I was started on oxygen and a CPAP at night because of the spontaneous oxygen desaturations.

cpap dawn
[Image Description: Selfie of the author during the 3-week hospitalization for a POTS flare and malnutrition secondary to malabsorption. The author is wearing a CPAP mask]

My amino acid testing came back showing multiple occult vitamin deficiencies and a serious deficiency in all essential and nonessential amino acids. In addition to these issues, the testing uncovered an exocrine pancreatic insufficiency, explaining my inability to maintain or gain weight as this causes fat malabsorption.

My doctor started me on intravenous nutrition, vitamin b-12 injections, vitamin c and omega supplementation, a beta blocker and pain management for my chronic musculoskeletal pain. Within a few days, I was on 24/7 oxygen because my frequent bathroom trips were causing distressful oxygen desaturations. My blood gasses showed hypercapnia but I was not having anxiety attacks to explain the problem. 

The only other issue was with my constipation. I showed symptoms of delayed gastric emptying and poor motility. He put me on a heavy duty bowel management regimen, but my guts were barely responsive. He ordered testing and surprisingly all my motility testing came back normal. Stranger still, I ended up throwing up the barium from one study hours after they said it had passed through to my small intestine and was “normal.” My doctor was frustrated but determined to keep me admitted until he exhausted every possible avenue with diagnostics. 

While he understood the Ehlers-Danlos Syndrome diagnosis, he did not see the importance of sending me to a facility that could most importantly diagnose my POTS officially. The cardiologist covering my case at the hospital recommended I be sent to a hospital better equipped to handle my delicate case. My primary wasn’t the type who worked well with other doctors. Regardless, EDS and POTS are conditions requiring a multidisciplinary team for successful management and I needed specialists opinions to get access to treatments and my disability case. 

I was sick and distressed by his disregard for my patient right to be evaluated be specialists familiar with these rarely diagnosed conditions. After talking it over with my family and a helpful Zebra friend, I demanded to be sent to the state university hospital.

You Are Your Best Advocate in Chronic Illness Life with Ehlers-Danlos Syndrome™

As a young human filing for disability, providing significant evidence and opinion on the disabilities is essential or the case will undoubtedly be denied. This means, the opinion of one doctor is not enough by any means. The fact is the opinions of multiple practitioners, family, friends, and employers are very important in justifying a case of disability in anyone younger than 60 years old.
I tried to explain this my doctor, but he didn’t understand in any way  helpful to my case. He continued to behave possessively towards my care. Finally, with much pressure from the nursing staff at the hospital, the cardiologist on my case and my own refusal to accept any more of his treatments he transferred me to the state’s university hospital. This move was catalytic to my journey to genetics, but also held its own consequences in regards to my care that are still playing out presently. 

Within 4 days, the physicians at the university hospital diagnosed my POTS officially with a tilt table test. See the video from eMedTV on Youtube to understand what this test entails. 

My pancreatic exocrine insufficiency was confirmed with 24-hour stool collection test. I was evaluated by a nutritionist and given EDS related recommendations for using medical protein supplements with added collagen proteins to bolster my nutrition despite the inevitable process. The team of doctors discontinued TPN as my protein levels were now normal.

Physical and occupational therapy assessments qualified me for a wheelchair since my mobility was limited my the syncope with my POTS, the dislocations and pains in my hip and back and the discrepancy between my leg length. They ordered home nursing, physical and occupational therapy to help me transition to my new, officially disabled life at home. All in all, I was pleased and hopeful to finally have a team who understood my diagnosis and knew what orders were appropriate. 

All in all, I was pleased and hopeful to finally have a team who understood my diagnosis and knew what orders were appropriate. 

The physicians suggested the amino acid testing my physician based his decision to start the IV nutrition on was not accurate and perhaps I should’ve never been on IV nutrition. I decided to ask for new primary care management in my case considering my troubles with my primary and need for better-educated practitioners. One of the residents on my case spoke up eagerly volunteering to take my case via her outpatient practice at the hospital.

I felt confident at discharge as I was sent home with all the right supports in place. Finally, I was out of the warped space that is my local healthcare system. These physicians were more up to date with current research. Things were going in the right direction and even though I was beginning to understand I would never get all the way better, I felt hopeful I wouldn’t have to worry about getting uneducated treatments nor if disability would question the validity of my case. 

Start of Care with the University Health System

By the time of my first follow-up appointment with my new primary, I gained 2 pounds back but experienced little improvement with my POTS symptoms or the issues with my neck, back, and hips. All these things were getting worse as my once muscular physique deconditioned further still. Difficulty swallowing was making adequate intake even more troublesome with my constant nausea and intermittent dysmotility.  My neurological symptoms continued to frazzle out as well. 
I attempted to show my new doctor research I’d found on using IV fluids to treat POTS, but she barely responded brushing the responsibility of that decision off to cardiology, which I was also following with at the university now. She referred me to sports medicine for help with my musculoskeletal issues related to Ehlers-Danlos Syndrome. She prescribed a few more medications to better manage my symptoms. She said she’d see me again in 3 months and in the meantime, I could contact via email if anything came up. 

The appointment was less than 15 minutes. My hope was for so much more as this was our first appointment and we’d not gone over all my medical history in the hospital. I was slightly concerned with her perceived disinterest in my case now we were no longer in the hospital; However, I held to hope because I knew sports medicine should at least have a better understanding of what to do with me. I needed referrals to genetics and for addressing my orthopedic and neurological issues as well. I told myself Rome was not built in a day and I couldn’t expect all of my issues to be addressed in one appointment when there were so many. 

Down the Referral Wormhole

The sport’s medicine doctor was familiar with EDS but questioned me as to why my doctor would be sending me to sports medicine rather than rheumatology or orthopedics. I felt my heart sink when he asked this as I figured this was the opening line of another dead end appointment to add to the vault of reasons why doctor’s appointments are a PTSD trigger for me.
He said, “I don’t think there is anything I can do with you without an official diagnosis.”

The second knife, twisting in my heart deeply.

“I do have EDS, I’ve just not been typed for EDS,” I told him as tears swelled in my eyes threatening to burst if he didn’t understand.

Quickly, he rephrased his statement to say insurances would not cover the things I need without an official diagnosis. He said I would need to see the pediatric geneticist as there was not an adult one available at the university. He completed and limited physical assessment and concurred the suspicion of an EDS diagnosis. 

He promised the geneticist was well versed in EDS and could connect me with the referrals I need to preserve my quality of life.

I began to tear up.

Finally, I  was getting somewhere with this! The validation from the appointment and promise of the long sought after genetics referral gave me more hope in getting appropriate supports and maybe a sliver of quality in life back.

Meanwhile, by this time my issues were even worse as my POTS symptoms were keeping me in bed most of the time. I could barely tolerate being upright in my wheelchair let alone standing and/or walking. The beta blocker to control my tachycardia wasn’t working enough to allow me to stand longer than a minute. My deconditioning from immobility continued to make it even easier for my joints to pop out of place just rolling over in bed. I lost the 2 pounds I gained in addition to another 3 pounds in a month.

Another month went by with my POTS uncontrolled and continued immobility and weight loss. I heard nothing on my genetics referral so I emailed the sport’s medicine doctor and he said he would follow up. Within a few days, I got a call to schedule the appointment.

Fortunately, the geneticist I would see travels my state and had an opening for an appointment in my town the following week! What luck, especially after so many years of struggling to get an appropriate diagnosis for all my issues, this was a great relief! I prepared as much as possible for the appointment. I went over and over what it would be like in my head as I related all the EDS webinars I’d watched to the potential of the experience. My hopes were high.

Preparing for my Appointment with Genetics

For the appointment, I prepared a detailed medical history outline for the geneticist to see the whole picture of my EDS diagnosis. While extremely personal, I am sharing it  as a resource to others who may suffer the same ailments, but not yet diagnosed with EDS.
Another beacon from the land of the officially diagnosed going out to those still trying to get validation from the difficult-to-navigate healthcare system. It is a bit lengthy and a little choppy but for authenticity sake, this is what I provided the geneticist to help her thoroughly evaluate and diagnosis my case.

I figured if I could wrap the package of my health history up in an easy to reference timeline this would help the geneticist better direct orders for the management of my case. I was proud of the list’s brevity, despite lengthiness, because summarizing 35 years of illness is no easier of a task than actually living Chronic Illness Life with Ehlers-Danlos Syndrome™, for real. I faxed the document a few days before my appointment so the geneticist could have a chance to review it beforehand. I nervously waited for the day of the appointment, barely sleeping and further flaring my system, but unable to shut my mind off from thinking about how the appointment would go.

Expectations versus Reality: My Appointment with the Geneticist

Online forums were a great help to me in figuring out where I needed to go and what to expect with getting my self-diagnosed EDS and POTS cases diagnosed officially. I knew what treatments and specialists I needed a connection to but knowing does little to make a doctor order these things.
That takes some finesse.

Getting to the geneticist was supposed to be the pinnacle of Ehlers-Danlos diagnosis.

My fantasies included a beautifully written novella for my doctors to refer to when ordering my treatments and therapies. I envisioned hugging the geneticist for taking the time to meet with an adult Zebra like myself. I thought over and over on how I wanted this appointment to play out. The reality was quite different from my geneticist daydreams.

The reality was quite different from my geneticist daydreams.

Appointment day finally came. My hubs accompanied as a resource and support (and a ride as my neuro issues took my ability to drive away in Fall of 2015). We were excited and hopeful. 

We sat in a busy waiting room for 4 different traveling doctor’s offices. I quickly spotted another Zebra from across the room. She was a teenager and reminded me of my daughters. I knew she was here to see the geneticist for the same reasons as I’ve become pretty adept at picking out the telltale signs of the EDS gene. 

My mind flashed back to my early teenage years. I saw the medical Zebra in me everyone missed at the time. 

Because I’d already investigated my geneticist online via the university’s website, I recognized her countenance as it approached to summoning me for my appointment. I was suddenly stricken with an attack of tachycardia and sweats but I quickly regained my composure. 

She left us to copy my insurance cards. “Here we go…” I thought as my hubs wheeled me into the small exam room.

She was pleasant enough, but I fear thrown off by my overzealous responses and occasional blubbering of gratefulness during the appointment. There was something familiar about her, but I could not put my finger on it just yet as my focus was in discussing my story. She asked me why I thought I have Ehlers-Danlos Syndrome. I showed her some of my tricks and referred to my medical history along with my maternal family’s poor health histories riddled with all the hallmarks of EDS.

She hadn’t seen my detailed timeline, which was a big disappointment because since my decline I no longer am able to rattle off medical histories on the fly with concise clarity. 

I did the best as I could to detail the significant part of my medical history with my hubs filling in the blanks as needed. She did a limited physical assessment of my EDS “tricks” and  succeeded those expectations. My Gorlin’s sign was on point. I showed her how I could partially dislocate my shoulder at will. I stretched out my skin to show off its hyperextensibility.  I showed her the sucker bite like bruising I get from the pressure of the water coming out of the showerhead.

“You have Ehlers-Danlos with a high suspicion for the Vascular type” She went on to tell me if it isn’t the vascular type, then perhaps a crossover of Classical or Hypermobile Types with vascular type traits.

She went on to tell me if it isn’t the vascular type, then perhaps a crossover of Classical or Hypermobile Types with vascular type traits.

I felt my mind instantly calm its ever racing thought processes and teared up. I said,I’ve waited for this moment my whole life!”

She urged me to check out the Ehlers-Danlos Society website and made the general recommendations made to one with EDS: increasing vitamin c, aqua therapy and increasing my fluids. We talked about my kids and the likelihood they’ve received the gene as they are displaying early signs and symptoms of the defect already at 19, 18 and 13 years old. We talked about disability and limits on activity for Ehlers-Danlos. She stated that a career in nursing is not exactly the best choice for someone like me, but my kids should be able to make better career choices with the knowledge of their genetics and hopefully avoid overuse injuries from the profession they choose.

Then she  showed me her EDS tricks.

This is what I was picking up on as far as her familiarity beyond her general appearance! She outed herself an EDSer but reminded me my case was different because of having systemic involvement beyond the hypermobility. With relief I didn’t have to feel bad about myself and level of debility, I gushed with more statements of gratitude.

The difference between our cases shows the great variance between individual cases of Ehlers-Danlos Syndrome. 

The appointment lasted about 45 minutes. She was kind and trying to helpful, but my intense study of EDS over the last year and hyper alert state made it hard for her to tell me anything I didn’t already know. While I was trying to convey my understanding and what adaptations to typical recommendations I made to provide a better quality of life, I think she took me as over-zealous and difficult to “counsel.” Nevertheless, she promised she would be in touch about the testing once my insurance authorized it and she would prepare a report for my primary and specialists regarding my diagnosis of Ehlers-Danlos Syndrome, probable vascular type.

I didn’t hug her as I’d fantasized but I was satisfied with the appointment… hopeful even. I was confirmed with genetics for Ehlers-Danlos Syndrome regardless of the type almost exactly 1 year from the fateful night at work that whole thing off into high-speed motion. I was happy with the outcome, although it minimally met my expectations because I hoped she would write orders for my consults as none of my other practitioners seemed to know what to do with me. 

She didn’t seem to know what referrals I would need in this case and was hesitant to provide any direction on my case in regards to my injuries or my neurological issues.  She said she would send documentation to report the confirmation of my diagnosis and management strategies and resources to guide physicians in my care. What seemed like an impossible dream was finally a reality! We were so relieved to finally be connected with a practitioner competent with EDS who would direct my other physicians in managing my case. 

At last, I felt as my Healthcare was working for me! Even if the genetics appointment didn’t completely fulfill my expectations, the promise of a good report to help with both my healthcare and disability case was enough for me!

Waiting in the Interim Between Illness and Rehabilitation

We waited for the report for a month and a half, which is expected. Each day I begged family members to check the mail because I so anticipated the delivery. By this time, my health was even worse with serious constipation issues and another 4-pound weight loss. Still stuck in bed most days because of my tachycardia heart and desaturating oxygen levels continued to challenge my activity tolerance, my life stayed sedentary. My pain was poorly managed but with all the other issues my last concern was getting appropriate pain management before addressing the most vital issues.
In the meantime, there were plenty of doctor’s appointments whilst waiting to continue stating my case. I saw my GI a few more times and was diagnosed with mild esophageal dysmotility, fluid aspiration with dysphagia and  suspected transient gastroparesis with IBS-C. Gi’s concern was my surgery from all those years ago when an outpatient surgery turned into a complicated 3-week hospital stay was coming apart! 

I met with a medical nutrition specialist to address the weight loss, malabsorption, and vitamin deficiencies.  My BMI creeps closer and closer to the “underweight” category from at 18.9, only 0.4 away from being officially deemed with the diagnosis of malnutrition. 

It was a long few months but holding on to the hope the genetics report would gear my doctor’s treatment decisions more inline with the Ehlers-Danlos Society recommendations made it bearable. 

The Genetics Report

Adding a geneticist to my team was supposed to be paramount in getting the correct treatments for my Ehlers-Danlos and POTS.
In particular, I was hoping she would recommend an orthopedic doctor or rheumatologists to address my musculoskeletal issues and order bracing. I expected she would refer my cardiologist to controlling my POTS with blood volume expanders and IV fluids. I played through the possibilities in my mind and daydreamed about the document being the document to end any struggles with getting treatment for Ehlers-Danlos Syndrome and POTS. 

The letter finally came in a thin business size envelope. I was struck with impending doom. I was expecting a thick manilla envelope and this looked no different than the usual letters I get from the university.  

I would provide my patients with the most detailed assessments, findings, and correlations  that they’d never again struggle for recognition in the healthcare system. 

There was a total of 6 pages in the document. There were inaccuracies in the report but generally it was a thorough summary of mine and my families health issues.  The rest of the document lacked any of the recommendations I researched as current, approved treatments for my conditions. There were no recommendations for my weight loss, malabsorption, nor the discussion of the higher incidence of GI shut down in the EDS population. There was nothing  written to address the  debilitating effects of my neck, back, and hip still seriously out of whack!  The report was short and sweet but sadly lacking in helpful points for my doctors who know nothing of the true nature of Ehlers-Danlos Syndrome.

Another knife in my heart!

How could this practitioner, with EDS herself, miss some of the most key components to helping me get access to the testing, management, and treatments I need to recoup some of these losses with this genetic plague?

I tried not take it personally. I don’t think I’ll ever figure this one out but this doesn’t stop me from advocating for myself and appropriate medical management. With the vast resources available online regarding management and care with EDS, I am well researched and know what my doctors should be doing. Sadly, most doctors refuse to admit they don’t know it all, especially when it comes to EDS.

Perhaps with time this will change. Until then I bring current research to my appointments and challenge my practitioner’s modus of Operandi with Ehlers-Danlos Syndrome. The only way anything will change in getting recognition for EDS is education on the need to reduce the risk for further debilitation beyond the effects of this disease with early diagnosis and evidenced based treatment practicesToo many practitioners subscribe to an inaccurate, outdated and extreme EDS case description. While rarely diagnosed, EDS is all but rare. Once one knows what to look for, one will realize there are EDSers of all kinds of striped patterns! 

Even with Diagnosis, Challenges to Healthcare Access Abound

So even with the genetics seal of approval on my Ehlers-Danlos diagnosis, I still must insist upon appropriate referrals. Each system in my body is going haywire. Baseline testing is needed for future reference as this is chronic progressively debilitating, multisystemic disease process proves to be unstoppable. 
While EDS is incurable, early diagnosis can change outcomes 100x for the better.

Early diagnosis protects against psychological pain and trauma comorbid to unrecognized, invalidated and unnamed illnesses. Genetics should provide a care plan template for the Ehlers-Danlos patient so all team members are on the same page. While my journey to genetics only took a year from figuring my EDS and POTS diagnoses, my symptoms began long before during childhood. 

This is just a flash in my thirty-year journey to diagnosis.

By sharing this snippet of my story, I aspire to provide a useful comparison and contrast perspective for those considering an Ehlers-Danlos diagnosis and wondering what getting to a geneticist  could potentially entail . If it were not for bloggers sharing experiences like these I may have never found out what was hiding behind the guise of idiopathic illnesses. 

Keep in mind, not all cases are as extreme as this just as some cases are much worse.

Please be sure to talk with a doctor about EDS suspicions. Learn as much about EDS as possible beforehand and prepare to dispell common EDS misconceptions. If met with ignorance or complete refusal to consider the possibility, fire that doctor and seek another opinion. That Chronic Illness Life shouldn’t include unsupportive practitioners. Don’t waste time with practitioners demeaning to valid concerns or resistant to providing important specialist referrals.  

While my experience with genetics was less than I’d hoped for and my physicians are far from fluent on the treatment Ehlers-Danlos Syndrome and POTS, having my genetics stamp of EDS approval made a big difference in how seriously my new physician and specialists took my case. The road to EDS diagnosis is windy and unpredictable. The path is wrought with potential trauma and threats to render one powerless against the system if certain cautions are not considered. If I can save one Medical Zebra from the toil of invalidation by sharing my story than the time taken to construct it is worth it!

Thanks for reading about my experience with genetics!

Please share to raise EDS Awareness and have a blessed day!

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