Running Head: ARE THOSE HOOFBEATS FROM ZEBRAS?

Are Those Hoofbeats From Zebras?

Demystifying Ehlers-Danlos SyndromeHypermobility Type for Doctors and Patients Alike
Mia Pruefer
DePaul University

ARE THOSE HOOFBEATS FROM ZEBRAS?

Abstract
This paper seeks to (1) give a recent background on health literacy; (2) provide an understand of
Ehlers-Danlos Syndrome-Hypermobility Type diagnosis (3) present a (HEDS) patients
diagnostic journey to exemplify the confusing route to diagnosis and complications of chronic
illness management; (4) discuss the complex nature of the HEDS diagnosis and how patients
manage their health, and finally (5) I argue that a further research is warranted on diagnosed
HEDS patients in order to draw conclusions about the patients level of health literacy on the
effectiveness of their HEDS management as well as a separate study to assess health literacy
barriers on the path to a diagnosis.

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A heightened awareness of health literacy deficits is felt when a patient has recently been
diagnosed with Ehlers-Danlos Syndrome (HEDS). There are abrupt changes to the patients
routine and a new appreciation of what it means to manage ones health. People with HEDS
typically have to deal with new medication, a change in their normal routine, scheduling regular
appointments and follow ups with doctors and specialists, and complex medical language. This
paper will (1) give a background on health literacy, (2) provide the common diagnostic criteria
for HEDS, (3) guide readers through a patients diagnostic journey, (4) discuss the complex
nature of a HEDS diagnosis and how patients manage their health, and finally (5) I argue that
two studies are warranted: one on diagnosed HEDS patients in order to draw conclusions about
the patients level of health literacy and the effectiveness of their HEDS management and
another study on HEDS patients in an attempt to find what health literacy barriers they faced on
their journey to obtaining a diagnosis.
Literature Review
Don Nutbeam (2006) pulled together over 30 years of health literacy definitions (p. 263)
and came up with three levels of health literacy:
Level 1, functional health literacy reflects the outcome of traditional health education
based on the communication of factual information on health risks, and on how to use the
health system.Level 2, interactive health literacy is focused on the development of
personal skills in a supportive environment [and] is directed towards improving
personal capacity to act independently on knowledge.Level 3, critical health literacy
reflects the cognitive and skills development outcomes which are oriented towards
supporting effective social and political action, as well as individual action (p. 265)

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America is suffering from a low level of health literacy that is evidenced in our rising healthcare
costs due to people that lack knowledge on how to manage their health effectively (Gazmararian,
Williams, Peel, & Baker, 2003; Freedman et al., 2009; Nutbeam, 2008). Low health literacy has
been tied to poor health outcomes (Nutbeam, 2008). Many people struggle with filling out
medical forms because the average literacy level is lower than the reading and comprehension
level of the forms. When a patient cannot understand the language of medical forms, they do not
know what they are medically consenting to when they sign them. Those with low health literacy
also have a harder time understanding explanations from doctors; a patients health suffers when
they cannot understand instructions from the doctor about medication, making follow up
appointments, or reasoning behind their treatment plan, etc. (Chinn, 2011; Gazmararian et al.,
2003; Nutbeam, 2008). It is challenging to implement programs that improve health literacy
because there is a lack of agreement on the definition of health literacy; many have made
arguments that build upon or change Nutbeams 2006 definition but none have been accepted as
the universal definition (Berkman, Davis & McCormack, 2010; Chinn, 2011; Freedman et al.,
2009; Leeuw, 2012; Nutbeam 2006, 2008). To create effective change and assess which patients
are at risk for low health literacy, standardized tools need to be in place to measure health
literacy levels for all patients (Berkman et al., 2010; Chinn, 2011; Freedman et al., 2009;
Gazmararian et al., 2003; Nutbeam, 2008).
Background - Elhers-Danlos Hypermobility Type
What is Ehlers-Danlos Syndrome Hypermobility Type (HEDS)?
The Hypermobility Type of EDS is characterized by loose joints and chronic joint pain.
This form of Ehlers-Danlos Syndrome was formerly called type III. Ehlers-Danlos
Syndrome, Hypermobility Type is a subtype of Ehlers-Danlos Syndrome. The most

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common sign of this condition is an unusually large range of joint movement, called
hypermobility. Both large and small joints are unstable, and certain joints (such as the
shoulder, knee, and jaw) tend to dislocate frequently. Chronic joint and limb pain often
begins early in life. People with this condition may have skin that is soft, velvety, or
stretchy; however, skin symptoms vary among people. (EDS Network C.A.R.E.S., 2012,
para 1-2)
According to The Ehlers-Danlos National Foundation (n.d.): Chronic pain is a well-established
and [is the] cardinal manifestation of [HEDS] and it is common for pain to be out of proportion
to physical and radiological findings (para 2). Exemplifying the pain experience of HEDS
patients, a study of 273 EDS patients having HEDS, Vascular EDS, or Classic EDS in 2010 by
Nicol Voermans MD, Hans Knoop PhD, and Gijs Bleijenber PhD
shows that 1) chronic pain is highly prevalent in EDS and is associated with regular
use of analgesics; 2) pain is more prevalent and more severe in patients with [HEDS]
than those with the classic type of vascular type; 3) pain severity is related to
hypermobility, dislocations, and previous operations but not other disease-related factors;
4) pain is related to sleep disturbances; and 5) pain is related to functional impairment in
daily life, independent of the level of fatigue (p. 376)
Some complications of [HEDS] include: chronic joint pain, early-onset arthritis, failure of
surgical wounds to close (or stitches to tear out), premature rupture of membranes during
pregnancyDysautonomia, and gastrointestinal problems (Life as a Zebra Foundation, 2015,
para 5). The diagnosis of [HEDS] is based entirely on clinical evaluation and family history. In
most individuals with [HEDS], the gene in which mutation is causative is unknown and
unmapped (Levy, 2004, para 2).

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One Patients Journey

I want you to imagine that you are taking my journey to a HEDS diagnosis. Please keep
in mind that this is the shortened version. Imagine you are 25 years old and you have been
bodybuilding (lifting heavy weights and fine tuning your body) for the past year and a half. You
have been sidelined for the past three weeks by debilitating nausea. Youre often tired but you
have trouble sleeping, chronic knee and wrist pain plague you daily, and you nearly faint when
you stand up. You go to your primary care physician (PCP) and the only things she prescribes are
an anti-nausea medication and a sleeping pill to help with a couple of your symptoms because
everything else requires a specialist. Your PCP refers you to an orthopedist for your joint pain,
orders a head CT (just to be on the safe side because shes worried about what happens when you
stand up) and sends you to an ear/nose/throat (ENT) specialist to see if your dizziness is an inner
ear problem.
Your appointment with the orthopedist was set up for both your knee and wrist to be
taken care of in the same appointment but when you arrive at the doctors office, they say they
can only treat one joint per appointment. You choose your wrist because its bothering you more
that day and you had been treated for your knee seven years prior. After a round of x-rays and a
short consultation with the specialist, he says you have some laxity in your wrist joint that
surgery could tighten up but then you could lose mobility in your wrist. He sends you home with
a wrist brace and you dont go back for another appointment because it was a waste of time and
money. Next, you have your head CT and after a few minutes of feeling claustrophobic, the test
is done. You wait a couple weeks and your results look clear.
The following week, it is time for your appointment with the ENT. All of the inner ear
tests were normal but he decides to have you try a simplified version of the Valsalva test

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(breathing in and out quickly, nearly hyperventilating, for about a minute or two). Your dizziness
and lightheadedness return; he determines that you need to see a cardiologist right away. You are
able to get an appointment with the cardiologist that same week. At the consultation, after
running an electrocardiogram (EKG) as well as checking your heartrate (HR) and blood pressure
(BP) in different positions (lying, sitting, and standing) he determines you need a tilt table test
(TTT) and schedules it for the following morning. You are not allowed to drink or eat before the
TTT because the test is designed to make you pass out. You get hooked up to an IV of saline and
strapped to a table that is lying flat. After 10 minutes of monitoring your HR and BP, the table is
put at almost a 90 degree angle and you become uncomfortable (warm, slightly dizzy, and you
see a few black spots) but your symptoms are mild. After another 10 minutes the nurse switches
the bag from saline to norepinephrine (it mimics adrenaline) and you pass out within two
minutes. When you wake up, you are diagnosed with a form of Dysautonomia called Postural
Orthostatic Tachycardia Syndrome (POTS) and Neurocardiogenic Syncope (NCS). POTS
because your heartrate jumped more than 30 beats when they changed the position of the table
and NCS because when you passed out your BP dropped to 60/30 (average is 120/80) and your
HR was in the 30s (which can put you in danger of a stroke). The doctor explains everything to
you 15 minutes after the test but you have a hard time comprehending because you havent fully
recovered from passing out. You are sent home with some reading material on POTS and two
prescriptions to pick up. He prescribes Metoprolol (a beta blocker that lowers HR but also lowers
BP and you already have low BP) and Flornef (in an effort to keep your BP from falling too
low). He also tell you to increase your salt to four times that of the daily recommendation and to
drink at least 100 ounces of water per day.

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You go home and discuss your diagnosis and medication regimen with your friends and
family. A friend has a similar diagnosis and refers you to support groups online. Online, you ask
questions about your current medications and find out the side effects and decide to invest in a
blood pressure monitor. After a few weeks on your new medications you start using your BP
monitor regularly, you find that your lowered BP and HR have caused you to feel worse than
before you were on the medication, so you ask other online patients about their experiences. A
patient on the support group refers you to Dr. Rose Dotson, a specialist who treats POTS
patients. After digging deeper on the support group, you keep seeing the acronym HEDS and that
a lot of people with POTS have it. You look it up and find out that it is called Ehlers-Danlos
Syndrome and it involves joint hypermobility (being able to move a joint beyond a normal range
of motion) and chronic joint pain. At your appointment, Dr. Dotson changes your medications to
ones that help more than the combination from the cardiologist. You mention HEDS and show
her your hypermobile joints, she tells you it is most likely HEDS but has to refer you to another
specialist for an official diagnosis. You wait six months to see Dr. Rudin. After almost a year of
bouncing between specialists, it only took five minutes for him to diagnose the root cause of all
of your problems, HEDS. There is no cure for HEDS but now you have a diagnosis and a
support group to help gather information and understand your daily frustrations.
Ehlers-Danlos Syndrome: Barriers to Treatment
Ehlers-Danlos Syndrome has many barriers to diagnosis which leaves patients frustrated
and in physical pain. In a study by the Hypermobility Syndrome Association 52% of 251
patients waited over 10 years from the onset of symptoms to get a correct diagnosis (Ross &
Grahame, 2011, p. 275). The first barrier is a misconception in the medical community as well as
among patients that HEDS is a rare condition. HEDS patients symbolize their perception of

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having a rare diagnosis by using zebra as their mascot (Life as a Zebra Foundation, 2015). Why
the zebra? Doctors are taught that when you hear the sound of hooves, think horses, not
zebras.In medicine, the term zebra is used in reference to a rare disease or condition. Doctors
are taught to assume the simplest explanation is usually correct to avoid patients being
misdiagnosed with rare illnesses (Ehlers-Danlos Support UK, 2014). Even though doctors are
taught in medical school that HEDS is a rare disorder, current research is proving that about one
in ten people in this country have hypermobility disorders (Ferman, 2012). Not all of those
patients with hypermobility have HEDS but doctors miss the diagnosis completely because they
arent looking for HEDS due to its misconception of being rare. Dr. Neilson argues that the
medical community and patients need to peel away this label of HEDS being rare so doctors will
look regularly for the signs and symptoms of HEDS (Ferman, 2014).
Second, there are common myths in our society due to a lack of awareness about HEDS.
A quick search of Ehlers-Danlos Syndrome and Public Service Announcements (PSA) only
yields four results on www.youtube.com. All four videos were released by the same author
within a day of each other during EDS awareness month a few years ago. The combined total
viewership for all four videos is under 5,500 (Martino, 2011a, 2011b, 2011c, 2011d). The only
way to find these videos is if a person has already heard of EDS; this prevents the PSA from its
intention of reaching and informing the public. Another search on YouTube for EDS on
television yields few results (prattbros, 2007; Le Zap de Spi0n, 2013; Ferman, 2012). The lack
of awareness is exemplified by our common phrases of having growing pains during puberty
or being double-jointed. If these two myths were straightened out, people suffering with HEDS
could receive a diagnosis sooner and get the relief they need. Young patients could get relief
sooner if the general public was aware that growing pains [only] occur in 20% of children aged

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2 to 12. Usually, a doctor determines a child has growing pains only by eliminating other
conditions (Bowen, 2012, para 6). We also need to expose that being double-jointed does not
exist. The extra movement in the joint is caused by Faulty genes [that] cause collagenthe
protein responsible for keeping our connective tissue strong and elastic, and therefor playing a
key role in holding everything together to become reduced or weakened (Jackson, 2015, para
6).
Third, patients are unaware of the risks or general problems associated with a HEDS
diagnosis and few make the connection to other coexisting conditions. Doctors are attempting to
spread the word by presenting their finds at different conferences for Ehlers-Danlos Syndrome or
by recording webinars that are free for the general public to access but few are aware these
resources exist. A small sampling of these free online lectures include: Dr. Peter Rowes (2011)
seminar at the Ehlers-Danlos National Foundation Learning Conference on the link between
HEDS and Chronic Fatigue Syndrome and Dr. Ronald Jaekles presentation on the complications
of pregnancy and Ehlers-Danlos Syndrome (Ferman, 2015) where he explains that women
with HEDS can expect more joint instability during pregnancy, a longer recovery postpartum,
and have a 50% chance of passing the HEDS gene onto their child.
Future Research
When a universal measurement is found for health literacy there are two different studies
I would like to undertake. First, I argue that a study is warranted on diagnosed HEDS patients in
order to determine if a patients level of health literacy is able to predict the effectiveness of their
HEDS management. In order to do an exploratory study, I would gather a convenience sample of
HEDS patients through a local support group. To make more generalized statements about the
HEDS population, I would take it a step further and reach out to the other support groups around

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the country; as of right now there are over 75 registered support groups with
www.edsawareness.com. For my second study, according to my research, there are many
undiagnosed HEDS patients due to a lack of awareness. I would study the barriers to diagnosis in
order to address the area or areas of health literacy that are being effected. I would do this by
interviewing patients diagnosed with HEDS about their journey to receiving a diagnosis. The
questions for this study could be completed simultaneously with the other study on the HEDS
support group patients but reported separately because the conclusions would be separate from a
patients current management of HEDS.

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