A Pilot Study of
Patients with Ehlers-Danlos Syndrome
and related Connective Tissue Disorders
in Utah and Surrounding States
This survey may not be copied or reproduced without the express permission of the authors. They reserve the exclusive right to reproduce, publish, post or otherwise distribute these materials.
The following is a pilot survey of patients with Ehlers-Danlos Syndrome (EDS), and other connective tissue disorders. It was conducted online during July and August of 2016 using Survey Monkey as platform. It was posted throughout social media where participants were encouraged to share the survey via email and relevant social media groups.
The primary objective was to collect information about this particular population, a group about which little data currently exists. It was directed toward gathering information about the challenges this group faces in obtaining primary diagnosis and then appropriate medical care. It reflects the experience of this group when they seek medical care.
The intention of this survey was to support an administrative inquiry into the possibility of developing a more specialized approach to providing medical care to this population in Utah and the intermountain west. Both by data and qualitative experience collected, the authors hope to encourage the administration to support developing a dedicated clinic, service, or program. There currently are no clinics, programs, or specialty services for EDS patients west of the Mississippi.
II. What Is EDS, and What’s in a Name?
Ehlers and Danlos were the first two physicians to recognize Ehlers-Danlos Syndromes (EDS) in the early 1900’s; marked by loose joints, chronic pain, skin anomalies and a myriad of other symptoms specific to each EDS Type caused by faulty collagen in connective tissue. Since then, between 10 and 20 specific genetic mutations in the synthesis of collagen have been identified, each resulting in an EDS Type. They are classified and identified by their differing genetic mutations. That is, all but EDSIII or EDS Hypermobility Type. No gene has been identified for people with this EDS phenotype. Because of this, there is currently a grand international debate about whether or not to reclassify EDSIII as something other than EDS, as EDS are a group of genetic disorders where specific collagen genes are mutated, and in EDSIII no mutation has yet been identified.
As you will see in the Survey, EDSIII is the most frequent, largest portion of the EDS population. When naming a clinic, facility or service that intends to serve EDS patients, it may be important at this time to use broad, inclusive terminology, so as not to exclude the currently-named EDSIII patients if it is renamed something other than EDS. There are also other rare heritable connective tissue disorders such as Marfan Syndrome, Stickler Syndrome, Tenascin X Syndrome, to name just a few, that are not necessarily Ehlers-Danlos Syndromes, but it makes sense to include them because of differential diagnosis and similarity in care and screenings. To keep a speciality service, clinic or center name broad and inclusive would help to draw more patients with related conditions, and also will maintain the greatest EDS population base by retaining EDSIII, even if it is renamed or classified as a different syndrome as more research is completed.
III. Procedure, Instrument, Distribution List, Authorship
The survey was written to show the frequency with which EDS patients seek treatment, the kind of comorbid diagnoses they have, and what their experience and satisfaction is with their current care, as well as to determine how many Utah patients are traveling to find diagnosis and treatment in other states, and for those in other states, if they would be willing to travel to Utah. As of August 23, 2016 when it was closed, there were 604 individual responses; the majority of respondents are from the US, but several are from Canada, and even Europe.
Survey Monkey is a commercially available survey writing and administering platform. It allows for a preset or customized structure, and automatically builds data statistics and charts from surveyed responses. A hyperlink is generated for a survey and can be shared and distributed anywhere on the internet. We allowed for more than one response per IP Address, so that a parent could complete the survey on behalf of minor children, or family members sharing a device could respond individually etc.
C. Distribution List
The survey was distributed throughout the internet via social media sites. The link was sharable, meaning once it was posted to the groups below, anyone in the group could repost it to their own social media platforms or email the link. Before posting the Survey to any of the groups below, the survey’s principal author asked permission of group administrators so as not to be mistaken as spam or phishing. The authors had no way of tracking all of the shared locations. Below are the places the authors posted or published it, or were informed of it being shared.
Every one of the following groups is “Closed” which means the group’s name and members’ names are visible publicly, but the content and dialogue are visible only to members. One has to be a member in any of these groups in order to post.
EDS Warriors of Utah, members: 200+
General EDS support and networking for Utah and surrounding states
EDS Today, members: 4500+
General EDS support group
Ehlers-Danlos Worldwide, members: 3600+
General EDS support group
EDS and Polysaccharide, members: 4600+
Group interested in using a specific dietary supplement protocol that claims to help the body synthesize collagen properly. Developed by Deborah Cusack, a mother and EDS patient who used it for herself and children for 5 years before sharing with the greater EDS community over the past 2-3 years. She studied NIH articles about each type of collagen that can be impacted by EDS mutations, and looked for ways to support their specific synthesis and corresponding polysaccharides nutritionally. The group is full of anecdotal success stories.
EDS Life Hacks, members: 1800+
Emphasis on adaptations and modifications that make living with EDS easier
Yin Yang Zebras-Alternative Positive Support for EDS, members: 380+
Group started to counter the culture of fatalistic, despair dialogue that is common in many of the larger groups. Tries to keep up beat and positive tone. The founder is British living in France, but membership is broadly international, with plenty of US members.
Additional locations where it was reported to have been posted:
Inspire, Ehlers-Danlos Society’s own social media forum
EDS Wellness, a private EDS advocate and educator’s website/blog
Justine G Case was a Licensed Massage Therapist for over a decade (retired), specialized in pain management and injury rehabilitation. She also worked in Physical Therapy for several years teaching rehabilitative exercises. In addition to having administrated multiple social media EDS support groups, she was an Ehlers-Danlos National Foundation Medical Helpline Volunteer.
Michelle Hawes is an Adjunct Professor in the Department of Communication at the University of Utah (retired) and the former Director of the Conflict Resolution Graduate Certificate Program there. She has a private consulting practice in academic, research and healthcare settings.
IV. Executive Summary
There are numerous compelling findings that warrant further analysis and future surveys or study. Below are summary of findings for both the general EDS population, and specifically for the Utah EDS Population, that could be informative or useful for consideration.
The survey received 604 responses from all over the United States, and some international.
Intermountain West (36%) (including Utah)
Remaining Western US (22%)
Totaling 58% of respondents from Utah and the neighboring region.
Diagnostic Data and Diagnostic Odyssey:
Of those with Suspected EDS, 72.22% are suspected to have EDSIII
Of those with Diagnosed EDS, 88.19% are EDSIII
Of those Diagnosed with EDS, 61.87% were diagnosed by a geneticist, but in Utah that number is currently only 44%
73.06% Experienced prohibitively long wait lists to see specialists
20.7 years: The average number of years to get an accurate diagnosis from onset of symptoms
10.54 years: The average number of years undiagnosed, suspected EDS patients have been seeking an accurate, definitive diagnosis
51 Average number of medical appointments in the past 3 years (Max was 600)
24 Average number of appointments in the past 1 year (Max was 150)
1,881 The number of children, relatives, friends and associates that those surveyed are concerned also require EDS screening
Traveling for EDS Diagnostics and Treatment:
56.44% of All respondents have already traveled, or plan to travel out of their home state for diagnosis or treatment.
40.7% of Utahns surveyed have traveled or plan to travel out of Utah for diagnosis or care. There are 17 states that Utahns are traveling to for specialized care, other than Utah. Those could be Utah patrons if they were aware of and confident in their options.
85.42% of ALL Survey respondents would be willing to travel to Utah if specialized care were available. With only 58% of respondents being from the western US, a Utah EDS program could potentially draw patients from across the entire country. If there is a service available, EDS patients are willing to travel for it.
100% of Utahns Surveyed would utilize services in Utah if available.
Common Comorbid Conditions:
The breadth of complex comorbid conditions that also require diagnosis and care are profound. It is essential that EDS patients get adequate referral to qualified care for the range of systems that are impacted due to faulty collagen.
This is only an excerpt of data from answers to Question 12: “What comorbid conditions do you have?” There were an additional 131 “other” responses. For full statistics and individual other answers, please see section VI. The Survey Data, Question 12.
92.46% Joint Pain
76.29% Cluster, Migraine, or Chronic Headaches
60.78% Chronic Fatigue
61.42% TMJ or Bruxism
32.11% Dysphagia (or other swallowing issues)
70.26% Other chronic GI issues
52.8% Sensory Processing Issues
55.60% Women’s Health (PCOS, Ovarian Cysts, Endometriosis, etc)
45.69% SI Joint Disorder or Pelvis Instability
40% Urinary Issues (Interstitial Cystitis, Neurogenic Bladder, Incontinence, etc)
22.2% Pelvic Issues (Pelvic Congestion, Pudendal Neuralgia, prolapse, etc)
62.72% POTS / Dysautonomia
47.84% Nerve Pain (CRPS, small fiber neuropathy, etc)
38.58% Mast Cell or Histamine Issues
46.12% Eczema, psoriasis, rashes, hives, etc
46.55% Breathing Disorders (asthma, cilia disorders, chronic bronchitis, narrowing of trachea, etc)
27.59% Cranial Cervical Instability
9.91% Chiari Malformation
7.97% Cerebral Spinal Fluid Leak
6.88% Intracranial Hypertension
While this last section has overall smaller percentages, it important to note these are such rare conditions, the data still supports the understanding in the EDS community that increased rate of other rare disorders is common compared to a standard population.
88.58% Do Not feel they have adequate care for EDS (In Utah 91.76%)
87.43% Do Not feel they have adequate care for comorbid conditions (In Utah 89.41%)
52.2% Have been dismissed as Hypochondriacs
75.55% Have been told Anxiety is causing their symptoms, nothing else
31.32% Have been dismissed as psychosomatic
45.88% Have been dismissed with Other psychiatric diagnoses
(Utah specific data are consistent with the general data in this area)
92% Few or none of the doctors I saw were familiar with EDS
79.64% Few or none of the doctors I saw knew diagnostic criteria for EDS
90.05% Few or none of the doctors I saw were able to connect my various symptoms
77.6% I was diagnosed with symptoms or comorbid conditions, but no one identified EDS as underlying cause
66.29% My doctors did not know who to refer me to
23% Doctors refused to see me once I brought up EDS
30.09% I was discouraged from seeking genetic confirmation
44.34% I was told EDS is rare, therefor I must not have it
The following are various open ended answers that create a striking narrative of the real world experience of being an EDS patient. These are direct quotes, in the patients’ own words
Q20: Have you ever had a doctor or other professional dismiss your EDS symptoms as any of the following psychological issues?
Other (please specify):
Was not believed about CSF leak until it was found in exploratory surgery.
Intentional self harm - It was believed by some providers that my dislocations and bruising happened with a frequency that must have been intentionally self inflicted.
I don't go to doctors for anything anymore, unless there's a clear, orthopedic problem or an obvious bacterial infection/need for antibiotics. My experience has been that most providers consider EDS as purely orthopedic in nature.
It's all in your head
hysteria-I kid you not, it's in my chart, because I yelled at a doctor who told me I should just get pregnant even though I was a poor college student and didn't want kids, and it's shown to make endometriosis worse for some people, myself included
I've had all of my symptoms dismissed for a variety of different reasons- one doctor told me it was all in my head because there was no evidence that EDS causes pain (totally false, but he didn't care and cut me off of all pain medications)
Attention getting behavior, malingering, obsessing, lying, laziness, work avoidance, Munchhausen's, depression, drug seeking, bad relationship(!?), "being a teenage girl/young woman".
Had no idea what was wrong wished us luck and sent us away I'm filling this out for my 7 year old who we took all over trying to find out what was wrong. She cried for the first three years of her life constantly. Her legs curved as she grew.
They didn't label it, but they indicated that the sx were being faked bc he was laughing in the waiting room. He's a chronic pain patient and this is how my family deals with mild and moderate pain - we joke and try to make each other laugh.
I am the first in my family to receive a diagnosis. My father and grandmother were deemed hypochondriacs.
I was told we may have eds and this doctor said anxiety & somatic disorder . The following day after this test I saw the Gentics dr and my son, mother & myself were all diagnosed with eds. The other doctors then dropped the somatic diagnose
Mellow dramatic teenager, too complicated, lazy, "your symptoms cover the entire medical spectrum, there's nothing I can do for you.”
"Conversion disorder" - that doctor completely missed my csf leak. Also, "depression" and "tension headache". All were erroneous dismissals because of the doctor's ignorance of connective tissue disorders and comorbid problems.
Conversion disorder and functional neurological disorders
Drug seeking, Munchausens, malingering, liar
That I was 'too young' to have pain.
I was referred to a psychiatrist twice in my 20s. At that point, I stopped seeking medical help at all for over a decade.
They have said it was all in my head
Just tired from having so many children.
Abusive childhood means I have ptsd. Drs like using that to prove the psychosomatic claim despite testing proving POTS, etc...
Depression-related aches and pains
Depression, socially influenced pain
mental illness and drug seeking
Depression, borderline personality disorder
Too young to know what she is feeling.
munchausens, PTSD, conversion disorder, psychosis, over-bearing mom
In beginning blamed on stress then pushed body so hard now severely disabled. This could have been prevented if knew what was going on earlier!!
"Maybe your body is just built that way" in response to my spleen as it continued to slowly enlarge
Told I was high on drugs when I wasn’t
We've been told, "well, she's doesn't LOOK sick" a doctor over told us that she had too many symptoms, no one had that many symptoms.
being clumsy and accident prone. being attention seeking
General dismissal of symptoms, i.e "Be glad you have joint laxity, this will clear up as you get older."
Professionals told me my symptoms were related to my ptsd before my ptsd was well managed. After I stabilized my ptsd I began to be taken more seriously by some doctors but not by most. It has been an uphill battle to advocate for my care.
I do have depression, ptsd, and anxiety and that is always the first thing that gets blamed for my pain..especially because no "real injury" was found.
Just blow me off like my pain and diagnosis isn't real.
They just don't think the symptoms or concerns mean anything.
"growing pains" as a child. My ulcers as child and TMJ were chalked up to "nerves". If a doctor can't measure and test what is causing my symptoms, then they are in my head, including episodes of paralysis in my lower limbs with all over body paresthesia.
One Example: In early 1990's I saw U of U specialist at request of my psychiatrist to rule out Marfan's, I was told by his med student that "everyone gets aches and pains sometimes." This was my only exit report to me.
Drug-seeking Migraines 2° emotions
As stated, more than one doctor has said "why get diagnosed, there is no treatment or cure". Untrue, unsafe, and ridiculous!!! Also a new doctor who had only seen me once immediately referred me to a pysch doctor. She did not assess me for any hypermobility, etc. She was one that said this to me. No other doctor who knew me and my history ever did that.
Stress (life stress)
Nothing important after assessing you.
One Dr blamed me because I wasn't healing following his surgeries. He kept saying to me "What is going on? Why aren't you healing"? More blaming than pinning a label on me.