Hidden Pain: Ehlers-Danlos Syndrome

By: Victoria Davis

You Look Great
You look great!
Oh no, not this again
You look healthy
Please, dont you understand?
Wow, how much are you exercising?
You have no idea
How do you make others understand?
We look normal
We have spirit
We care
We love life
We have dreams
We love solutions
But, the truth is
We struggle every day
We tread waters to try to remain calm and productive
We dont know where to turn except to each other
We want to be brave
We dont want to bring other down
We dont have answers
We are scared of the future
We dont want sympathy,
We want respect and understanding
But the truth is,
We are living the hidden disability
It wont go away, but will progress
The pain wont stop, but it will increase
It wont allow us physical freedom, but will cripple us
You look great!
Thanks, I appreciate that
You look healthy
Thanks for the compliment
I guess we should be happy we look good to all of you
I guess the rest remains hidden
If only you wanted to know the real truth
But, what would we gain by telling you!
Ellen Lenox Smith 10/22/06

NORTH SCITUATE, RI __ At first glance, Ellen Lenox Smiths home is idyllic and
quaint. Sitting in her dining room, natural light pours in from the windows
overlooking her backyard through the tan back wall; a dark brown wall to the
left, dividing the dining room from the living room, sets off the rustic wooden

furnishings including her hardy dark wooden table draped in a tan table cloth
decorated with brown patterned wicker placemats and a lazy susan full of
napkins salt and pepper. Tucked under the table sit seven high-backed
wooden chairs. A simple cream-colored rug covers most of the floor, with
geometric patterning around the trim line in the same brown and tan as the
walls. A tall, light wooden shelf between the two windows hosts photographs
documenting Ellen and Stu, her husbands, lives together, picture frames
varying in size cover the top of a wide dark wooden cabinet spanning most of
the brown colored wall as well. A section of post and beaming of the houses
infostructure is visible running up the wall and across the ceiling alongside
the first window, near the living room. Suspended industrial lighting hangs in
a linear formation, connecting at joints that create small bends in the path.
Ellens collection of furry friends, four cats and two dogs, one of which is a
service dog; roam freely about the house.
However, upon closer inspection, you notice other things about the room. On
her table, next to the lazy susan there is a dlp flex red and infrared LED light
and heat therapy pad, which she was given by the U.S. Pain Foundation to
use to aid in pain relief. The floor is clear; nothing is out or in the way so that
she could trip on it. Next to her picture frames on the cabinet stand bottles of
vitamin supplements and various medication containers. In a room off to the
side of her dining room, her medicinal marijuana plants grow in pots of soil
so that her and her husband can provide the herb to both herself and their
patients that they took on as caregivers. Scattered around the house are a
bushel of tools and aids that Ellen had accumulated over the years to
supplement a normal existence. For instance, she felt a bit of her
independence return the day she found an automatic can opener. Ultimately,
it is the little things that add up and make her feel like she is a little more
capable and self-sufficient; those moments really matter; especially to a
group of people who cannot cut their own food.
I would like to take a walk back to the reservoir, Ellen said, blinking back
tears from her vibrant blue eyes, when discussing what she would do if she
had control of her body; this was all she wanted.
It was so peaceful and serene, thats where I started the writing poetry I
dont even like poetry, Ellen said recounting the last day she was able to go
the Scituate Reservoir back in 2006. She had gone for a walk by the water
with the two dogs to do some deep thinking, and was finally able to come to
terms with the direction her life was going.
The toll of all of the pain she had been living in had finally caught up with
her. After standing there for quite some time, she felt a sense of peace wash

over her. Upon her return, she retired from her job and stopped coaching and
swimming competitively.
Ellen is a victim of the invisible illness Ehlers-Danlos syndrome (EDS) a
degenerative genetic illness that manifests in the connective tissue (which is
responsible for holding everything in the body together). She was no longer
able to do the things that she loved, primarily teach eighth grade social
studies or continue to be a master swimmer.
Outwardly, she appears to be fine, her slight frame holds itself up with the
posture a physical therapist might applaud; her white complexion appears
weathered with sunspots, scars, and bruises obtained over the years. Crows
feet and laugh lines mar her face, which is framed with gray hair, detailing
the length of her journey. It is hard to believe at first glance that this smiling
66-year-old could carry the burden she throws across her delicate shoulders
each day. Ellen herself has become accustom to receiving comments on how
she doesnt look sick and said that with invisible illnesses, You dont see
these things, how people are suffering underneath.
For most of Ellens life, she struggled with the effects of having an
unidentified invisible illness, By the time I was 40, I knew something was
seriously wrong, she said. It took 54 years for Ellen to be diagnosed, and
the resulting diagnosis did not lift her spirits, she said. After all that time I
finally found an answer only to find that it is this incurable illness it would
have been easier to have been diagnosed with cancer to have something
that is treatable.
Ellen has the most well known type of EDS otherwise known as the Classical
Type, which results in a surplus of dislocations and subluxations around the
body, as well as a slew of other side effects. At any time, her body can fail
her and attempt to take her life. For instance, she constantly struggles with
her collarbone slipping out of place, which can choke off her air supply while
she is sleeping.
While being able to stretch and bend at odd angles may seem like a super
power at most or an interesting parlor trick at least, these manipulations
dont come without a hefty dose of pain. I sometimes am able to forget my
situation, Ellen says. Then something happens and all I can do is pray to
get back what I call normal as time goes on and things add up you just
keep finding a new normal and pray things stay that way. She has become

so conditioned to being in pain that she no longer hopes for pain-free days,
she only hopes to remain at the level she had accustomed herself to.
However, sometimes it doesnt take a new injury or flare up to remind Ellen
of her situation, sometimes the world does a perfect job of that on its own. At
her church, there are steep stairs leading up to where the service is held. It
was terrifying: They used to have to carry me up the stairs, Ellen said,
however a few years ago they finally got a lift installed but, one day the lift
broke, and Ellen just sat at the base of the stairs listening to the church
choir; she felt helpless just listening to a choir of which she was a member as
they practiced in the church without her: I had forgotten how debilitating it
was to be handicapped, she said.
Growing Accustomed to Change
With Ehlers-Danlos syndrome, Ellen has accumulated an odd assortment of
braces and mobility devices including canes, crouches, walkers, and
wheelchairs. With each day she tallies up what joints need extra assistance
and adds the necessary additional layer of support, unfortunately this
fluctuates throughout the day. Most of her morning and early afternoon are
spent doing exercises; no heavy weight lifting, just light core muscle
strengthening exercises like taking a swim around the pool or using
resistance bands to try and strengthen muscles. I spend the first half of my
day preparing for the second half, Ellen said.
Her house and way of life have been adapted to what she is capable of as
well, she used to have a long wooden wheelchair ramp in front of her house
leading to the front door, unfortunately New England weather got the better
of it and it rotted. She can no longer walk on uneven ground, so her husband
has to take care of all of the yard work and walk the dogs. Ellen has also
learned handy tricks to save herself from unnecessary pain throughout the
day, she does not bend over while in a chair to pick something up off the
ground, because that is an easy way to dislocate a hip. Instead, she stands
and bends to get it or better yet, asks her service dog to fetch it.
To help her feel more independent about seven years ago Ellen received
her service dog, Maggie, a black Labrador retriever, from the company
National Education for Assistance Dog Services more commonly known as
NEADS. Maggies main jobs include helping Ellen get around, picking up
items from off of the floor, opening doors either by hitting the mechanical
button or by tugging a rope attached to the door handle, turning on and off

lights, and fetching things out of the refrigerator. Even though she was not
trained to deal with the symptoms Maggie also helps Ellen when she is
having a hard time with her Postural Orthostatic Tachycardia syndrome
(POTS), which is a complication that is often combined with EDS. POTS is a
heart condition where the blood does not flow through the body correctly
making the heart rate spike and then plummet when an individual goes from
lying down to sitting and sitting to standing.
POTS like EDS can have fatal consequences, if not treated properly an
individual's heart can stop and if no one is around to assist them, it will stop
for good. Maggie, due to her strong bond with Ellen is able to warn her of a
coming onset of POTS as well as been able to get Ellens husband Stu when
she is in danger of passing out. She saved my life six days after I got her,
and weve been taking care of each other ever since, Ellen said.
Maggie is eight years old now; her stark black features paralleled with the
fringe of white hair outlining her mouth; her short frame still trim and sleek
in her old age. The typical procedure with service dogs is once they are too
old to work, you receive a new one and your old dog retires and becomes a
very well trained house pet. I am terrified of the day that I have to start
leaving her home. Ellen said, It doesnt feel right that dogs should age so
much faster than us. I wish we could grow old together.
On the topic of death, Ellen has been ready for her own passing for years.
With a disease as unpredictable as EDS she drafted up her final Will and
Testament once she had reached a place in her disorder where she could no
longer fight what was to come. With her four sons, Timothy, Ryan, Benjamin,
and Christopher all grown up, she didnt have to worry so much anymore.
She has spent her fair share of time in programs such as Hospice, eventually
being kicked off of all of them because of her refusal to let their physical
therapist on staff come to her house and work on her.
She would never allow this to happen because with EDS there are a lot of
restrictions to the amount and type of physical activity a patient can handle,
they have to go to physical therapists that specialize in EDS, if they dont
they risk damaging their body further than it already is.
Despite all of her planning she is still really concerned for the timing of it all.
Her lack of independence would make it unbearable to live alone, she said, I
have been very blessed to have such a loving and understanding husband.

Although she fears the future, for if Stu died before she does she will be lost
in every way imaginable. I just pray that I go first I cant walk the dogs
down the street, drive, or walk across my own backyard because its
unevenly grown yeah; I just hope Stu goes after I do. That will give him a
few years of peace, said Ellen.
Ehlers-Danlos syndrome, a rare connective tissue disorder, affects people
from all different continents, colors, and creeds from around the world. The
EDS community have been working to create awareness both in the doctor's
office and on the street, the illness recently reached a national audience
through an imaginary patient being treated on the television show Greys
Anatomy.
Kristen Brack, 38, runs the RI EDS Awareness Support Group, as a victim of
the disease herself she is working from the ground up to create a system for
people like herself who have EDS and want to have somewhere to turn to
talk about it. Brack didnt always want to be an activist.
Before she was diagnosis she had a completely different set of goals, I
wanted to be a stay at home mom and raise four kids, she said, I have no
kids I wasnt able to have them, and for a long time I was really upset about
that and couldnt move forward the support group helped me. She
founded the Rhode Island group after speaking and volunteering at the U.S.
Pain Foundation, it gave me the confidence that I needed, Brack said.
She saw a serious lack in awareness in the community as a whole, doctors
and people with EDS alike were struggling to understand the disease, I
always wanted to raise awareness in Rhode Island. There wasnt any, there
wasnt any support groups, or really anything, Brack said, I was born this
way, and I can either fight against it or I can embrace it and I chose to
embrace it, and to me thats healthy.
However, it is not easy having a disease and being an activist at the same
time, I cant miss a meeting, Brack said. She isnt allowed to have a sick
day, she always needs to be there so that everything runs smoothly. I go to
the State House to speak a lot, about different things affecting rare disease,
but also because Im a cannabis patient and it doesnt matter how Im
feeling because they have those hearings on a specific day at a specific time
and if you arent there, you arent counted. You can send in your written
testimony but there is nothing quite like you being there and them seeing

how much pain you are in. It gives more weight to what you are talking about
because they can see how much pain youre in and how much you went
through to get there, Brack said.
I think the group has been really influential in raising awareness, Brack
said, I went to Miriam Hospital before we started doing our awareness
events there and there wasnt really any knowledge about EDS at all, and
Ive been there since then and the nurses and anesthesiologists and in a lot
of other aspects they are understanding my disease without me having to
explain it to them. And I think we are partially responsible for that.
While the interest in EDS has increased with videos gone viral and online
articles written about life with chronic pain which all help the spread of
awareness, there has not been much successful research done to help cure,
or improve the quality of life of those who have EDS. However, there was one
study that draws parallels between Postural Orthostatic Tachycardia
syndrome, Ehlers-Danlos syndrome, and Mast Cell Activation syndrome. This
study published in Nature Genetics on October 2016, showed that the same
gene mutation is responsible for causing all three of the disorders. People
who have EDS often have POTS or MCAS or both, there are others who
believe that MCAS is what causes EDS; there is no hard evidence to support
either theory just yet. Joshua Milner at the National Institute of Allergy and
Infectious Diseases led a study which it involved 96 people with EDS
Hypermobility Type and mast cell issues. Among the group POTS symptoms
were commonplace, particularly gut problems such as Irritable Bowel
syndrome.
Milner discovered that the participants had something else in common as
well: higher-than-average levels of a protein called Tryptase in their blood.
Tryptase is a part of the immune systems reaction and can be linked to
many of the core EDS hypermobility and POTS symptoms. It can contribute
to pain sensitivity, issues involving the blood vessels, as well as contribute to
how your connective tissue, bones, and joints are created. This study only
represents a small portion of mast cell patient population, most mast cell
patients have normal levels of Tryptase, while the group from the study has
an extra copy of the gene TPSAB1 giving them a double dose of the protein.
After going back through the case files of thousands of other patients, they
found that the data correlated, all the patients who had the extra copy of the
TPSAB1 gene had symptoms that are commonly found in EDS Hypermobility

Type, POTS, and MCAS, although, even in the patients they found it in a lot of
these disorders were still undiagnosed. The lack of diagnosis is not surprising
because on average it takes about 10 years or longer for someone with EDS
Hypermobility Type to be diagnosed properly.
Miller discovered that there is 30 percent of the population that do not make
Tryptase at all and are living perfectly healthy happy lives. This means that
for all of the people with EDS, POTS, and MCAS there is hope, because if
Tryptase is not necessary then if they can just find a way to shut off the
alpha-tryptase factory where it Tryptase is made, then maybe the people
who suffer from these disorders will not have as many symptoms, if any at
all. This is a very promising and groundbreaking potential form of treatment.
While the good doctors continue to push out more research we will just have
to wait patiently to see what they find.
Ellen Lenox Smith isnt alone. The calculated frequency of all of the different
types of Ehlers-Danlos syndrome results in about 1 in 5,000 individuals
worldwide who have the disorder. The hypermobility and classical types are
the most common, hypermobility affecting as many as 1 in 10,000 to 1 in
15,000 people, while the classical type most likely occurs in 1 in 20,000 to
40,000 people. The other forms of EDS are even more rare, Vascular Type
estimates vary widely, but the condition may affect about 1 in 250,000
people. Arthochalasia type displaying about 30 cases worldwide and
Kyphoscoliosis type has only 60 cases reported worldwide.
Unlike other diseases where it is the choices you make or your parents made
that are the root of the problem, such as where smoking and secondhand
smoke can lead to lung cancer, or poor eating habits can lead to type two
diabetes. EDS is a genetic disorder meaning that it is passed on from
generation to generation. Being we each get traits, the different things about
us that make us individuals such as hair color and height, from both parents.
Those trait arm wrestle and depending on which are the strong or dominant
traits, they knits together the different characteristics that make you who
you are.
Despite all of the great research being done there is no treatment or cure for
EDS, the most one can do is maintenance. This is done through surgeries
when tendons and muscles become too loose and flexible to function, as well
as medication, however, due EDS patient's inability to metabolize opiates,

medicinal marijuana has become a saving grace for many a victim of the
disease.
Ellens first time turning to marijuana was when she hit a wall with all of the
pain medication and was desperate for some relief, I asked my eldest son to
buy some off of one of his college friends, she said, it was revolutionaryit
changed my life. EDS patients often have problems with opioids, their
bodies unable to metabolize them, so they drug often times has no effect or
benefit. Ellen is now a proud owner of a medical marijuana card, and is an
information specialist for the Pain News Network, writing monthly articles
dedicated to medical marijuana.
Terms
Genetics is a remarkable part of life. It is the reason why corn is the organism
that humans have the most genes in common with and how it takes 16
different genes to determine one persons eye color. All of the traits or
characteristics that an individual has are all decided based on the basic units
of life, deoxyribonucleic acid (DNA).
DNA is how traits that are recessive or can skip generations like red hair and
traits that are dominant and are present in every generation, even when not
expressed, like brown eyes are passed on from a parent to child.
Unfortunately, the heredity of traits does not only pass on favorable traits. It
is through genetics that mutations such as Down syndrome, where an extra
chromosome is all that went awry, or in EDSs case where a simple
autosomal dominant trait is passed on. A persons life depending on a
chromosome, which is where genes are housed in most eukaryotic cells; this
type of cell being any cell with a nucleus and other membrane enclosed
organelles.
Located in the nucleus of almost all human cells are 46 chromosomes. They
are arranged in pairs and numbered 1 to 22 for the first 44, called the nonsex
or autosomal chromosomes. The remaining two are the sex chromosomes
they are either an X or a Y and determine the sex of the individual. Males
have one X and one Y while females have two Xs.
So in the case of EDS the trait is autosomal so it is a nonsex chromosome
that is dominant, meaning that it does not skip generations. If one parent
has a single copy of the dominant gene for the disorder and the other is

entirely normal, their children will have a 50 percent chance of either

inheriting the disorder or not.
To simplify this idea for DNA from both parents crossing to make a child, it
might be easier to picture it this way: dominant traits are Skittles (S) and
M&Ms (s) are recessive. If your mom is a Skittle (Ss) and your dad is an M&M
(ss). Then when they cross and combine with each other, the possible
outcomes are Ss, ss, Ss, and ss. So the chance for you to be a Skittle (Ss) like
your mom is 50 percent, the same goes from if you were to be an M&M (ss)
like your father.
The ratio is the same for every child, just because one kid from a parent duo
does in fact have an autosomal dominant trait it does not mean that the
other will automatically not have the disease, the odds are still 50/50 with
every new child. Once it is decided that an individual does indeed have EDS,
the scientific terminology becomes even harder to comprehend. The disorder
itself comes in several different forms, however, they all stem from the same
basic issue.
EDS is a heritable connective tissue disorder that alters the biology of
collagen in the body. This leads to the multi-systematic symptoms in
patients. Collagen is the most abundant protein of the body; it is the
substance that holds everything together. It is found everywhere in bones,
muscles, and tendons, and is responsible for providing the body with
strength and structure. This malfunction in the collagen makes it so the
different body systems do not act or work the way they are supposed to. The
skin is velvety soft, but as though youre always rubbing the velvet with the
grain as well as being hyper-extensible or very stretchy.
The fragile skin that easily tears or bruises some bruises lasting months and
even years. Another symptom is severe scarring, slow healing of cuts and
other wounds, and lastly and probably the most annoyingly is the
development of molluscoid pseudo tumors or fleshy lesions associated with
scars over pressure areas.
The commonality between types does not end there. Joint hypermobility or
loose and unstable joints which are prone to frequent dislocations and/or
subluxations; joint pain; hyper-extensible joints or joints that move beyond
the normal range; the early onset of osteoarthritis. Osteoarthritis is a type of

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arthritis that occurs when the flexible tissue at the ends of bones wears
down.
History
Ehlers-Danlos syndrome (EDS) like most of its better-known cousins has a
documented history that dates back as late as biblical times. EDS was first
brought to light all the way back in 400 BCE by Hippocrates. In his writing,
Airs, Waters, and Places, in a description of the Nomads and Scythians,
They have no right breast; for while they are yet babies their mothers make
red-hot a bronze instrument constructed for this very purpose and apply it to
the right breast and cauterize it, so that its growth is arrested, and all its
strength and bulk are diverted to the right shoulder and right arm.
This describes how their joints were lax and they had multiple scars, it was
thought to be the caused by cauterization that had been applied in an
attempt to stiffen up their joint.
EDS remained elusive and mysterious for centuries there wasnt another
sighting until 1657. A Dutch surgeon from Amsterdam, Job Janzoon van
Meekren took interest in a Spaniard, George Albes a 23 year-old with
extreme hyper-extensible skin. Albes bizarre ability to stretch the skin
allowed him to bring the skin of his chin down to his chest, or up to cover his
eyes. He was also able to pull the skin of his knees an impressive distance as
well.
Although, Abes was not said to have had any of the other traits EDS is known
for, joint laxity or scarring and his super elastic skin was only on the right
side of his body, for reasons still unknown.
His far from normal skin was marveled at regularly at the Leyden Academy,
in Leiden, Netherlands. Meekren brought him in front of a group of senior
physicians at the Academy and gave his prognosis of Ehlers-Danlos
syndrome, however it would not fall under that title for another few decades.
The renowned violinist Nicolio Paganini (Oct 1782 May 1840) is believed to
have suffered from Ehlers-Danlos syndrome. He is said to have had bony
hands, thin, bordering on translucent skin, large feet and a
disproportionately long neck, all common traits for the disease. His hyperextensible joints allowed him a rage of motion and dexterity in his fingers
allowing him to create beautiful melodies on his instrument. He could also

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contort his body into seemingly impossible poses during performances and
he would suffer from bouts of severe abdominal pain from weeks or months
at a time, furthering the evidence that he had Ehlers-Danlos syndrome.
He used to say, I am not handsome, nonetheless, when women hear me
play they come crawling at my feet.
A comprehensive description of a syndrome that entailed laxity and fragility
of the skin in association with the hypermobility of the joints was published
in 1892. A Russian dermatologist A. N. Tschernogobow brought two patients
to display his findings at Moscow Venereology and Dermatology Society. One
of the patients was a 17-year-old male with epilepsy who had fragile and
elastic skin, hypermobile joints, and his knees and elbows as well as other
areas had pseudotumors on them. All of these characteristics Tschernogobow
built into the backbone of what is now the general clinical description of
classical Ehlers-Danlos syndrome.
With start of the late 19th century, some Ehlers-Danlos syndrome patients
decided to take their disease to center stage, joining traveling shows and
circuses, to show off the hypermobility of their joints in contortion or the
stretch of their skin in acts titled the, Human Pretzel or The India Rubber
Man. In the days where peep shows could be found on any circus or
fairground EDS sufferers made a name for themselves under pseudonyms
that emphasized and their abnormal traits. They made their living by
demonstrating the extreme stretch of their skin or flexibility of their joints,
the crowds grimacing and glowering at the things that made them different;
yet somehow they were looked down upon, considered freaks because a
crowd of people paid a pretty penny to gawk and laugh at them.
The Elastic Lady, Etta Lake was a professional exhibitionist who toured
Europe and North America around 1933 whose photograph was found in a
fairground peepshow. Her managers grandson had given permission for her
picture to be used in the texts and books describing EDS as a disease. In this
black and white grainy photo of Lake the viewer is drawn to her larger eyes
that stand out luminescent on her face. She is dressed stylishly in a collared
scoop neck dress that was all the fashion at that time, her hair styled up in a
short crop of curls, that the era was also well know for, wisps of hair curling
short around the crown of her head. She dawns a blank expression, looking
simultaneously elegant and grotesque as she takes her hands up to the left
side of her face, pulling the skin at her jaw out a few inches. The skin of her

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neck stretching thin like a resistance band, used for exercise, pulled taut, the
band stretching and wrinkling with the effort of the stretch. The rest of her
complexion is perfect, showing no sign of an abnormality that would result in
such a bizarre talent.
In order to document new medical discoveries and human dissimilarities
photography was used as a new method of clinical documentation starting
after 1850. There was no photographic documentation of EDS patients until
1880 where a traveling performer posed stretching out his skin of his neck.
Finally in 1901 the first half of Ehlers-Danlos syndromes namesake joined
the game. The disease was further expounded upon by Edvard Lauritz Ehlers
a Danish dermatologist from Copenhagen, Denmark in his publication on a
patient, a law student, seen at the Dermatological Society of Denmark in
1899.
It described the patient as someone with lax joints, hyperextendible
(extremely stretchy) skin, and frequent easily acquired bruising. His findings
in the case where published two years later yet he stopped working within
the disease that would one day bear his name.
At the same Dermatological Society of Denmark a French physician from
Paris in 1908, Henri-Alexandre Danlos, discovered the vascular side of EDS.
After re-examining a patient with lesions on their elbows and knees that was
diagnosed with juvenile pseudo-diabetic xanthoma.
Danlos suggested the skin lesions were vascular and inflammatory due to
trauma. He made this claim do to the patients stretchy and fragile skin that
reminded him of the case study done by Ehlers years before.
After all of the legwork put forth by so many doctors, primarily
dermatologists, between the years 1932 and 1936 this peculiar condition
had finally generated enough research to earn itself a title and credibility in
the scientific world, and an English physician, Parkes Weber, suggested that
it be called Ehlers-Danlos syndrome.
The disease was then diagnosed at a greater frequency. The first case in the
U.S. was discovered by a Dr. Tobias in 1934. Followed by the largest review to
date taking place in Rhode Island, published by F. Ronchese in 1936. He
located 24 patients in a literature review that had the disorder and reported
three new cases of his own as well. In 1956 Victor A. McKusick would compile
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his monograph, at the time there were less than 100 case reports, but by the
beginning of 1982 there would be reports of over 500 different persons
displaying EDS in 300 different articles.
Genetics and dominant inheritance had been mentioned as a contributor to
the diseases spreading in years as early as 1888 and from then it was
brought up sporadically. In 1948, Sture A. M. Johnson and Harold F. Falls
conducted a study demonstrating the autosomal dominant inheritance. The
study contained an overwhelming 32 affected relatives spanning five
generation.
L. H. Jansen brought up the possibility of a defect in the patients collagen to
be the reason why EDS affects the different parts of the body creating the
excessive looseness the way that it does, six year after the Johnson and Falls
study.
McKusick was the first to write about the genetic heredity of EDS in 1960 in
his book, Heritable Disorders of Connective Tissue. After that big waves
were made in 1967 when A. P. Barabas detailed three clinical types, including
the arterial-ecchymotic type which was called Sack-Barabas syndrome; that
is now known as Vascular EDS.
One year later, five distinctive clinical types of EDS were identified by Peter
Beighton, whose writing describing the different attributes are the basis for a
lot of current doctors knowledge. His book, The Ehlers-Danlos Syndrome,
also contains examples of phylogenetic trees, or genetic maps showing
where in the family EDS has been passed down from and where its origin is
within a family; the images of these differed between the different types,
some having more presence in a family tree than others. He also created a
series of tests now referred to as the Beighton Test where a patient is
asked to demonstrate a series of physical abnormalities. For instance,
keeping their knees locked and bending down to touch the floor and using
one hand to press the thumb of the other hand down so that it is flush
against their wrist.
These tests are still used today to diagnosis a large majority of patients
because genetic testing is still very expensive, especially on top of other,
more pressing, medical bills. Theses tests allow for more people to be
diagnosed by simply verifying with a second opinion, rather than spend

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hundreds, and if you need to test for more than one type thousands, of
dollars.
In 1972, McKusick made an even bigger leap, towards the system that we
know today, and listed the seven types of EDS that we know today: Classical
Type, Hypermobility Type, Vascular Type, Kyphoscoliosis Type, Arthrochalasia
Type, Dermatosparaxis Type, and other types yet to be categorized.
Each type of EDS has their own personalized case of issues, however there
as certain criteria that remain stagnant across the board. Patients with EDS
suffer from joint laxity, stretchy skin, and the constraint threat of easy and
long lasting bruises and cuts. The six classifications are relatively new and
the terms and conditions that define EDS constantly in flux. A contributing
factor to this is the fact that it takes on average 10 years for an EDS patient
to be diagnosed, leaving large portions of a persons life in limbo waiting to
find out what is wrong with their body or mind. With these large spans of
time it is not possible for the number representing the amount of people to
have EDS to be consistent with the amount of people who actually have the
disorder. This means there could be symptoms the world is still ignorant to in
a class of EDS yet to be discovered.
However, thats not to say that EDS patients cant do amazing things, Garry
"Stretch" Turner, 39 years old, is a landlord for a pub, while his day-to-day life
may seem ordinary Turner has EDS and with the stretch of his skin that
comes with the condition, Turner made a world record of the most
clothespins attaches to one person's face. He had 153 pins at once.
Hypermobility Type
The classification of EDS is broken down into the seven different subtypes.
The most common subtype of EDS is the Hypermobility Type or Type III. The
foundation of this EDS type is the symptom of joint hypermobility. The
general, well-used joints of the body are affected at large from the elbows
and knees to the phalanges (fingers and toes). Joint dislocations or
subluxations, otherwise known as partial dislocation or slight misalignment of
the vertebrae, happen often and without being provoked. Shoulders, the
patella or kneecap, and temporomandibular or jawbone are all joints that
often dislocate frequently for patients with this type of EDS.
The severity of patients velvety skin in both hyperextensibility and bruising
tendencies are both at a range. The skin can range from being at a normal

15

stretching capability to that of Albes where their skin, much like an elastic
band can stretch out to great lengths and upon being released go back to its
normal form. Bruising also varies in the Hypermobility Type, bruises are
almost always easily acquired, but while some bruise when someone grabs
their arm and the bruise lasts a few weeks, others bruise from things
unbeknownst to them and the bruises last from months or even years, it all
depends on the individual. There is a considerable amount of variation
between sufferers of EDS, clinical manifestation and complications are in no
way consistent.
Although, chronic pain is a fundamental manifestation of Hypermobility EDS,
it is commonplace for the pain to seem out of proportion to what is found
through physical and radiological testing. The pain is possibly caused by the
muscle spasms, degenerative arthritis, and neuropathic pain. Neuropathic
pain is when the nerve receptors in damaged tissue (such as an area where
joints frequently dislocate) become damaged as well. Despite these
hypothesizes there is no clear answer as to where Type III EDS patients pain
comes from.
There has not been much success in the research done thus far to identify
the problem with the formation of collagen in the body; so there is still no
exact name of the biochemically distinctive traits that are responsible for a
patient inheriting the Hypermobility Type. This type of EDS is inherited in an
autosomal dominant manner.
Classical Type
The Classical Type is also one of the well-known types of EDS. The
hyperextensibility (stretchy) quality to the skin; more scars, and more severe
scars, on the skin's surface; and, of course, joint hypermobility coincide with
this type. The superficial areas of the body are where the greatest variation
is found, skin abrasions ranging from mild to severe. The skin is smooth and
velvety; its fragility and bruising tendency also varies from patient to patient.
The skins extensibility leads to health risks such as hiatal hernias (when the
stomach swells up into the chest through the diaphragm); rectal prolapse,
described as when the rectum loses its normal attachment to the end of the
large intestine, exit the anus and turn inside out; and cervical insufficiency or
the inability for the uterine cervix to retain a pregnancy in the second
trimester. Scarring and pseudo tumors are normally found at patients

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pressure points such as knees, elbows, forehead, and chin. To top it off, fatcontaining cysts can be found in the fleshy parts of forearms and shins.
The ever-present complication of joint hypermobility includes sprains,
dislocations and subluxations and pes planus or flat feet. The most common
joints to sublux are in the shoulder, patella and temporomandibular joints.
Muscle hypotonia or low muscle tone and delayed gross motor development
in children as they grow may be evident.
The clinical testing for Classical Type shows an abnormal electrophoretic
pattern of the Pro-1(V) or Pro-2(V) chains of collagen type V has been
detected in several but not all families with the Classical Type, although
recent work may have brought molecular diagnosis rate to over 90 percent.
This means that by identifying the pattern they are able to properly diagnosis
90 percent of people who get genetic testing for EDS Classical Type.
This type is also inherited in the autosomal dominant manner so if one
person form a family is diagnosed then they could help diagnose anyone else
in that family who could potentially have it. This is because if someone has
one type of EDS they will pass on that same type. A mom with Hypermobility
will not have a daughter with Vascular.
Vascular Type
The most dreaded type, Vascular Type is generally considered as the most
serious form of EDS due to the possibility of artery or organ rupture. The skin
on these patients is usually thin and translucent, the veins clearly visible
through the skin, especially over the chest and abdomen. There are also a
series of facial characteristics that are present on some of the affected
individuals, such as short stature, thin hair on their scalp, lager eyes, a thin
nose, and lobeless ears. There is also a decrease in the size of the
hypodermis or layer of fat, particularly in the face and extremities, making
these folks thin and sallow in appearance. Even the slightest trauma can lead
to extensive bruising that lasts for extended periods of time.
Fragility or rupture of the arteries, intestines, uterine commonly arises in this
type of EDS. Spontaneous arterial rupture has a peak manifestation in the
third or fourth decade of life, but may occur earlier. The midsize arteries such
as the splenic artery that supplies oxygen rich blood to the spleen are
commonly at risk. Arterial rupture is the most common cause of sudden
death. Pain in the side or abdomen is often the clue that there is an arterial
or intestinal rupture.

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The life expectancy is shortened with a majority of individuals with Vascular

Type only living into their 40s. Pregnancies often fail or are made
complicated by a uterine rupture during birth and excessive blood loss due to
artery failure. It is not uncommon for a mother with Vascular Type to die
giving birth. However, treatments are available which may help extend life,
and surgical interventions are improving.
Hypermobility of joint is usually limited to the digits or fingers. Rupture of
tendons and muscles can also occur. Talipes equinovarus or clubfoot is
frequently seen at birth. The disorder manifests in other ways as well,
acrogeria or premature aging of the skin of the hands and feet; early onset
varicose veins, gnarled, enlarged veins commonly found in the legs;
arteriovenous fistula or an opening between an artery and vein;
pneumothorax or the collapse of a lung and pneumohemothorax which is
collapse of a lung with a collection of air or gas and blood; gingival recession
(receding gums) and complications during and after surgery such as wound
dehiscence when a wound ruptures along a surgical incision.
Kyphoscoliosis Type
A lesser-known type of EDS is Kyphoscoliosis Type or Type VI. The name of
this type kyphoscoliosis means spinal deformity, which is further
characterized by curvature to the vertebral column in two planes (the
Coronal and Sagittal). The people with this type deal with generalized joint
laxity and severe muscle hypotonia or weak muscle tone since birth. The
muscular hypotonia can be very pronounced and result in delayed gross
motor development. Individuals with the Kyphoscoliosis Type exhibit scoliosis
(curvature to the spine) at birth that worsens with age. This is degenerative
and often results in the loss of ambulation, or the ability to walk place to
place, in the second or third decade of life. Scleral (outer protective layer of
the eye) fragility may lead to rupture of the ocular globe after minor trauma.
The fragility of tissue includes atrophic scars or scars from lack of muscle use
and easy bruising are possible symptoms of the Kyphoscoliosis Type.
Spontaneous arterial rupture can also occur with this type of EDS.
More symptoms and attributes of this type are: marfanoid habitus Marfanlike features (such as a tall slender build, disproportionately long arms, legs,
and fingers, or one breastbone protruding outward or inwards); micro cornea
described as abnormally small cornea; and radiologically considerable
osteopenia which is a diminished amount of bone tissue.

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The Kyphoscoliosis Type EDS is the result of a deficiency or lack of lysyl

hydroxylase (PLOD), which is a collagen-modifying enzyme. Through the
strides made in medical science to pinpoint this enzyme deficiency, this type
of EDS can be identified through a urine test and much like the Classical
Type, due to its autosomal recessive inheritance, aid entire families.

Arthorchalasia Type
Arthrochalasia Type or Type VII A&B patients main dislocation area is of the
hip. This singular joint dislocation is present in all of the biochemically proven
individuals who have this type of EDS. On top this; individuals often deal with
severe joint hypermobility with recurrent subluxations. It is also known to
cause: hyperextensibility as well as easy bruising to the skin; fragile tissue
which can lead to atrophic scars; muscle hypotonia; kyphoscoliosis; and
radiologically mild osteopenia.
The Arthrochalasia Type of EDS is caused by mutations leading to deficient
processing of the amino-terminal end of Pro-1(I) [type A] or Pro-2(I) [type B]
chains of collagen type I. The discovery of this deficiency in the formation of
collagen makes it so that in order to test for Arthrochalasia Type a skin
biopsy is all that needs to be done. Similarly to the types before it, it is
inherited in an autosomal dominant manner.
Other Types
While these are all of the six specific types that we know of to date there are
still others that are outside the realm of the ones previously categorized.
The previous EDS Type V (X-linked) is a very rare type; the only record of it
has been described in a single family. It is an atypical variant and the
molecular cause still remains unknown.
A previously accredited EDS Type VIII is similar to what we now know as
Classical Type, except that in addition to it current symptoms and anomalies
periodontal friability, or gum recession was a major factor. There is not
enough data to support this EDS Type VII to stand on its own.
The EDS Type IX was previously redefined as Occipital Horn syndrome, an
X-linked recessive condition similar to that of Menkes syndrome. Menkes
syndrome is a diseases that affect the copper levels of the body, it is
characterized by an individuals sparse kinky hair, deterioration of the

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nervous system, and failure to gain weight or grow. This has since been
removed from the EDS classification.
Different forms of EDS within this unclassified category house similar and
completely unique traits from the classified types. These forms are a
figurative dumping ground for what is on the cusp of EDS and potentially
other diseases. With symptoms like: mildly stretchable skin, shortened
bones, chronic diarrhea, joint hypermobility and dislocation, bladder rupture,
and poor wound healing. There are many different way that these types are
thought to be passed down, only through males or mothers who are carriers,
who unaffected but still house the disease in X-linked recessive, or autosomal
dominant and autosomal recessive inheritance. Examples of what these
different syndromes are called include: Beasley-Cohen Type, Progeroid form
B4GALT7, Friedman-Harrod Type, Tenascin-X deficiency TNXB and
Musculocontractural type CHST14.
Going Public
In most recent news there has not been many medical advances in the EDS
stratosphere, however the disorder is in the works of becoming a more
socially accepted and known disease. The co-executive directors, Shane
Robinson and Lara Bloom of the Ehlers-Danlos National Foundation currently
working avidly for EDS awareness. They went to Hollywood and met with a
group of producers and discussed getting EDS a global audience.
However it was a 19-year-old by the name Olivia Herzoff who got EhlersDanlos syndrome its big break. In March she was invited to speak with a
shows writers about her illness after her mentor had introduced her to the
former actress on Greys Anatomy Sara Ramirez. From there Herzoff was
introduced to the runner of the show Shonda Rhimes who was intrigued by
her tale and invited her to Los Angeles to the set of the show so she could
tell her story to the writers there. With the goal of spreading awareness she
was able to reach a national audience, the day after the episode aired the
words, Ehlers-Danlos syndrome had skyrocketed on Googles search
engine. On Oct 13, 2016 on one of the most popular TV hospital dramas
Greys Anatomy brought EDS into the limelight for its 45 minutes of fame.
On the show a young woman who has been coming to the hospital monthly
to get an IV, because she knows she is dehydrated. Initially the doctors
believe this woman to be just another addict, due to her long opioid history,
trying to get a quick fix. However, after they patronize her for a while and

20

tried to play good cop, bad cop to make her go to rehab, she has had
enough. She removes her own IV and is trying to walk out when one of the
doctors grabs her arm and her shoulder dislocates, she puts it back in place
and in doing so leads the doctors into figuring out what is wrong.
A few issues that arose with the way they portrayed EDS in the drama is that
they say that (the male doctor who finally figured it out) he saved her life.
This is not really true because she was the one who knew what she needed,
everyone else was just being a nuisance and getting in her way, while its
great to have a diagnosis; it will not change her situation because there is
currently no cure.
Another thing that was bothersome about the show was that they said that a
persons chances of having EDS were one in a million. This is grossly
inaccurate, in the Hypermobility and Classical types (which are the most
common), the Hypermobility Type can affect as many as one in 10,000 to
15,000 people, while the Classical Type is more likely to occur in one in every
20,000 to 40,000 people. The other forms of EDS are very rare. This is a
harmful statement because if people hear its one in a million then they
wont think EDS is as relevant and pressing an issue as it truly is.
My Last Good Day
PROVIDENCE, R.I., Wednesday, Nov. 26 2014 __ Fluorescent lights make
white spots appear in my vision as I stare up at the ceiling in the drafty
doctors office. The green gown they had me change into makes me feel
vulnerable for what is about to happen. My surgeon, Dr. Jonathan Schillers
associate, whose name is forgotten seconds after he introduced himself,
stands tall, his large build taking up most of the small lemon-yellow-painted
room.
He has me maneuver the gown so that he can better access my right hip
and all I can think about is how I wish I had gone to the bathroom before
getting changed, like my mother had suggested. After a quick warning of,
This will be cold, he applies a generous amount of below-roomtemperature lubricant to my skin and starts an ultrasound to find my right
hip socket. This is the location where my hip and pelvis meet and, once
located, he skillfully marks my skin with a purple marker.
Remember, if this doesn't work, that means you won't need surgery, which
isn't necessarily a bad thing, he said.

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Two years before, I had fallen down a flight of stairs and dislocated my hip
and now my hip continues to dislocate. The pain I felt, Dr. Schiller believed,
could be attributed to damage to the ligaments responsible for holding my
hip together. This test was to see if a numbing injection to those ligaments
would make the pain in my hip go away. If it did, then that meant the
ligaments were damaged and I needed surgery; if not, we would have to
reassess the whole injury.
The doctor sterilized my skin thoroughly with disinfectant, and then took out
the most menacing needle I had ever seen. It looked like a straw, its length
almost half a footand its width was the size of a dulled down #2 pencil tip.
I started to reconsider my options as he filled the syringe with a numbing
agent: Perhaps we could put amputation back on the table? A measly leg
could not possibly be worth all of this trouble.
After probing the area of injection with his fingers, I laid perfectly still and
watched through the screen of the ultrasound, like a slowed down horror
film, as he lowered the needle through my skin and muscle releasing small
amounts of fluid from the syringe as it made its descent until I felt it scrape
across the bone of my hip. He then let the syringe empty out into the socket
of my joint; when the syringe was empty he slowly removed the needle from
my body. Now, all I had to do was to wait.
It can take up to 10 minutes for it to start working, he said as he left the
room. After a few minutes had taken their time in passing, I finally felt the
numbing begin to take effect. For the first time in years, I put pressure on my
hip and felt nothing.
After thanking Dr. Schiller repeatedly, tears seeping from my eyes, we began
to leave, eager to spend to next approximate, 10 painless hours: depending
on how much you use the leg. I kept running out of words as I tried to
explain this unusual feelingthis absence of painto my mom.
She pushes me in my wheelchair quickly through the levels of Rhode Island
Hospital until we reach the parking garage. I stand and climb into the car one
foot at a time for the first time in two years. We should stop by Mikes
before we do anything else... show him what I can do, I said, as we began
the drive, towards Seekonk, Mass.

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After a 20-minute drive, we arrived at Mike Healys Physical Therapy office,

Mike my Physical Therapist, has been helping me fight to stay mobile with
my EDS ever since I was initially diagnosed. With my moms arm around my
back as support, I walked into the building, and I charged past the reception
area into the gym to go interrupt Mike in the middle of an appointment. He
congratulates me on walking and tells me to be careful, now that we know
the problem is a tear, you dont want to aggravate it, he said.
However, I could now spoil my one good day that I had had in years, so when
we left, and when my mom asked me where I wanted to go, naturally, I said:
I want to play tennis. My mom, being her devoted self, did not let the fact
that it was November and all of the outdoor courts had long since been taken
down, deter her, she pulled out her phone and plugging in the coordinates
for the closest few indoor facilities; and we were off, on a mission.
Immediately, we ran into so issues as my mom called places as we drove. A
lot of the courts that she called were full with athletes training in the offseason in back-to-back time slots. It wasn't until she called and redirected
her GPS away from one facility to head towards another so we didn't waste
any time, for about the fifth time, that she was told that I could hit a few
balls on a vacant court between its use for lessons at Centre Court Tennis
Club in Riverside, R.I..
We rushed over, hurrying so that we could make it there in time to allow me
to do what I want to do before the pain came back to my leg, and made it
just in time for me to hit around for a little while. I love tennis; it was the first
sport that I played where strategy and skill could outmatch brute strength.
Tennis and I have been in a love affair since an early age. However, since I
had fallen, my body had finally given into my symptoms and I had to give up
being an athlete, a word that I had used to define myself since I could
walk.
Being back on the court was nothing like old times, but hearing the crisp
thunk every time my racket hit a ball, smelling that awful-yet-wonderful
scent of new tennis balls, and standing on a court again it was more than I
was willing to ask for a few hours prior.
The owner of the tennis club had one of the trainers come out onto the court
to hit around with me, and we just volleyed the ball back and forth between
us. After about 15 minutes, the students for the next class started to filter in

23

and it was my time to leave, the magic of the nearly perfect day was broken.
My mom and I clamored back into the car, and just as the doctor had
predicted, the feeling in my leg returned full force on the ride home. Looking
back, I can still say that that perfect afternoon was worth all the pain that
followed. I dont regret a thing.
Feeling Inspired
Ellen Lenox Smiths entire body wages war against EDS day in and day out,
never knowing when she is going to finally lose, however she still manages
to keep her spirits and smile lifted. She works hard to advocate for others
within the Ehlers-Danlos syndrome community as a member of the US Pain
Foundation, the Arthritis Foundation, and a caregiver, to name a few of her
endeavors. Ellen is also an influential character with the RI EDS Awareness
Support Group that meets monthly in Warwick, RI at the Warwick Public
Library.
She is not the type to let her illness get the better of her. [I believe you] can
either fight it or live with it, Ellen said. She has chosen rather than live in
denial and spend her days wallowing away, she is going to live life to its
fullest regardless of her EDS and find ways to mend her life back on track
while it constantly moves along within the constantly changing environment
around her. She has faith that things happen for a reason, and while she
doesn't believe she was given Ehlers-Danlos syndrome because of something
she did, because it is something that she has had since birth, she does think
that the pain and ache that it has caused are something she was meant to
endure and learn from. It is her job to figure out how to work around the
struggles that EDS brings her, This is a test in life, are you going to be
miserable or live for the moment she said.
Kristen Brack lives by the same motto now, but it took her a long time to get
there, I really wish I could go back and give myself some advise, and say
what you look like does not matter, I refused to use a walker and I hurt
myself repeatedly falling, I refused to use a wheelchair and I suffered,
trapped myself inside my own home and isolated myself. I wouldnt use a
cane for a long time when I needed one, just not going in a pool because I
didnt like how I looked in a bathing suit, Brack said, Those things I wish I
could tell myself how much they dont matter. Now I could care less what I
look like in a bathing suit or if Im in a walker, wheelchair, I dont care
whatever it is. It took me a long time to get there and a lot of injuries that I
didnt have to suffer and a lot of emotional distress that I didnt have to go

24

through I didnt care much what I looked like but when it came to medical
devices I didnt want to wear my neck collar I didnt want to use my walker I
didnt want to use those things that marked me as broken.
Brack now knows a lot about how to care for herself, Know yourself and
know your options and remember when you are looking at different
treatments remember that you are an individual and not everything is going
to work for you and something might work that didnt work for other people,
everyones journey is unique to them, Brack said, Find the best way to
treat your body and that means being selfish and thats why you really have
to take that extra care to be anything for anyone, so going to physical
therapy, maintaining a healthy exercise program no matter how much pain
you're in, it doesnt matter you just do it.
In order to do the things Ellen has dedicated the second half of her life to,
she puts a lot of effort into getting through each day. I work hard, but not to
get better, Ellen said. She has to exercise constantly to keep her muscles
strong and be able to walk around with minimal braces covering her joints.
She also struggles with dietary restrictions and issues involving bowel
movements. For a few months, she was struggling with an inability to go to
the bathroom which lead to an impacted bowel; every few weeks she had to
go in and have the doctor do what her body was incapable of doing for itself,
pass her stool.
After exhaustive medications, dietary changes, and everything else that she
could possibly get her hands on to try to help, she had to fall back on the one
thing that she had been neglecting the entire time, her mind, There was
nothing left to try -- the only thing left I could use was my mind, Ellen said,
and some people think Im crazy, but it worked.
Ellen was able to control some of the more basic body functions just through
the power of thinking that she could. A mind training of sorts called
biofeedback therapy was the key between her and the control over her
bodys functions. Biofeedback allows patients control physiological processes
such as heart rate, muscle tension, and blood pressure. Not all patients
believe in the power a mind can have, calling biofeedback a joke, not
believing that by imagining yourself doing something that you can do it.
There is merit to both arguments; however, Ellen has found profound
assistance in the use of her mind and imagination in ways of healing. In a

25

game like Ehlers-Danlos syndrome, where you can only lose, you have to be
willing to go outside your comfort zone in the name of finding a remedy. Ive
always believed that if it wont hurt you, and it might help you try it, Ellen
said.

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Bibliography:
Beighton, Peter. The Ehlers-Danlos Syndrome. London: Heinemann Medical,
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Smith, Ellen Lenox. It Hurts Like Hell! I Live with Pain--and Have a Good Life,
Anyway! First ed. N.p.: Wow, 2016. Print.
Enersen, Daniel. Ehlers-Danlos Syndrome a Historical Review.
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Hippocrates. Hippocrates Collected Works I. Digital Hippocrates, Cambridge
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Juangc. About EDS. - Inspire. About EDS. - Inspire, Ehlers-Danlos National
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Lumley, M. A., Jordan, M., Rubenstein, R., Tsipouras, P. and Evans, M. I.
(1994), Psychosocial functioning in the Ehlers-Danlos syndrome. Am. J. Med.
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Genetic Disorders. Hauppauge, US: Nova, 2010. ProQuest ebrary. Web. 1
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Wiley &Amp; Son INC, 2002,
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8kypipat8noxtlw8cybus&hl=en&sa=x&ved=0ahukewicfwf9l3pahwg2d4khyvrahyq6aeiljac#v=onepage&q&f=true.

Etta Lake the Elastic Lady (Beighton 8)

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