OTHER STUFF

This Is...

Ehlers-Danlos Syndrome.

words : #ysuWords and EDHDCymru

Co-written with EDHD Cymru (Wales), we don't just cover the medical facts and how to pronounce it.

We also introduce the issues of medical gaslighting and the abuse suffered by these Bendies patients.

When it comes to these disorders...

...This is what you need to know.

#YouSeeUsThisIsEDShsd

#ttdThisIsEDShsd

Say 'ER-lers dan-LOSS'.

It was named after the two people to first identify the connective tiisue disorders (CTD), Edvard Ehlers, a Danish dermatologist

and Henri-Alexandre Danlos a French dermatologist English physician, Frederick Parkes-Weber, suggested the title in 1936.

The first criteria to identify and diagnose EDS did not happen until 1998 - the

Villefranche Nosolology, named after the French town of Villefranche, where the deciding conference was held.

It has since been replaced by a genetic diagnosis criteria (2017).

What is it?

A collection of degenerative and

progressive connective tissue disorders (CTD), which effect every

system of the body, and thus require a multi-disciplinary medical approach to management.

How does it happen?

Production of faulty collagen and/or TNXB and other proteins supporting the collagen cells.

Inherited - so you're born with it, or you're not (congenital).

Can happen when a gene mutates - so no need for a family history of it. If a mutation causes it, future generation can then inherit it.

Some generations may show no/few symptoms.

Contrary to the belief of many medical professionals. a patient does not have to have overtly stretchy skin to have certain types of EDShsd.

Current knowledge on PubMed states that Tenascin X (TNXB) involvment may lead to an increased risk of internal organ and blood vessel rupture, even in the the Hypermobile Type (HEDS).

Symptoms

Note: This list does not include all symptoms.

- Widespread, intractable musculoskeletal and neurological pain.

- Hypermobilty. Means abnormally bendy joints (people say 'double-jointed')

- Bruises easily. Wounds heal poorly. May reopen after stitches removed

- Local anesthetics less effective /don't work at all

- Abnormally stretchy skin. 'Velvety' soft skin. Scars easily, heals poorly, with even previously sutured/stitched wounds reopening

- Overcrowding of teeth and high arched palate (roof of mouth)

- Frequent, easy dislocations and subluxations

- Hypovolaemia (low blood volume)

- Prolonged bleeding

- Dysfunction of the Autonomic

- Nervous System

- Gastrointestinal Issues (nausea, vomiting, c-constipation, pain, bloating, no appetite, inability to eat or drink)

- Sleep Disturbances

- Tachycardia and Arrhythmias

- Dizziness

- Seizures [not Epileptic, possibly cardiogenic/neurological?]

- Fainting

- Fidgeting (yes, fidgeting)

- Vitamin D Deficiency

- 'Allergies' - actually Mast Cell Activation Disorder/Syndrome

Not all people will have all the symptoms.

Some may have EDS and have no/few problems.

Can cause death through internal organ rupture, aortic dissection or rupture and through complications such as infection, poor healing, malnutrition, dehydration, seizures, etc.

Some conditions associated with EDS/HSD may be life-threatening (i.e. Severe Craniocervical Instability/CCI).

Diagnosis

Clinical examination using the Beighton and Brighton Scales where the

Hypermobile type is suspected, as the gene for this type has not knowingly been identified.

Genetic testing for types other than the Hypermobile Type (HT-EDS) became the expected way to diagnose the condition, following the introduction of controversial Genetic Diagnostics Criteria.

Genetic cheecks should be used if HEDS is suspected HEDS cases to determineof TNXB and any other issues exist.

A UK familial study unexpectedly identified a family diagnosed as HEDS also carried the VEDS-causing, protein coding gene COL3A1, showing that it may be possible to carry twp tyoes of defective gene - or to suffer, then pass on, two genetic mutations.

Can include a urine test for the very rarely recorded Kyphoscoliotic type.

Treatment

There is no cure.

Ongoing detailed cardiac scanning (aortic risks).

DEXA bone scans.

Ongoing blood vitamin/mineral/full counts.

Ongoing specialist physio/hydrotherapy, orthotics.

Pain Management input, medications.

Specialist liquid diets (delivered via various tubes in to the body), increased water and sodium intake (under medical guidance).

Other info

In 1998 the Villefranche Nosology identified ten types of EDS. In 2016, a New York Symposium reclassified them, and now seven subtypes exist.

Vascular (VT-EDS)

Classical (CT-EDS)

Hypermobile (HT-EDS)

Athrochalasia (AT-EDS)

Kyphoscoliotic (KT-EDS)

Tenascin X Deficient (TNXB EDS)

Dermatosparaxis (DT-EDS)

Some types are rarer than others.

Each have specific traits but all carry common characteristics too.

The gene for the Hypermobile Type has not

been found.

Patients sometimes show symptoms associated with another subtype, though the official line currently states an individual can only have one type of EDS.

Genetic theory shows mutation of more than one 'collagen gene' is possible, and a UK family with

HT-EDS were identified as carrying the COL3A1 gene which causes VT-EDS.

PubMed (US National Institute Of Health) is the database medical professionals use for research on EDS/HSD. Visit it to do the same.

Unfortunately people with EDS/HSD are commonly judged and this is the main reason for such a delayed diagnosis.

Because of the multi-systemic symptoms and the usual lack of medical knowledge, professionals not only misdiagnose but more damagingly, they often ignore or dismiss what we're saying, labelling us as a hypochondriac, drug- or attention- seeker, liar or as suffering from a purely psychological condition (Fabricated Illness) with no physical cause.

This leads to an immediate halt in our medical care - and negatively impacts on our future treatments.

Some of us have come

to avoid seeking

emergency medical

care when we need

it due to the

medical gaslighting, Ableism and

#InstitutionalAbuse

we endure.

The average length of time it takes for those of us with Ehlers-Danlos or a Hypermobility Spectrum Disorder to get a correct diagnosis is 24 years.

During this time our symptoms including pain tend to worsen, and we suffer terribly - some youngsters and children are completely immobilised, in agony and even in need of Feeding Tubes, but we're left unable to get any answers or help from the medical profession.

Unfortunately people with EDS/HSD are commonly judged and this is the main reason for such a delayed diagnosis.

This leads to an immediate halt in our medical care - and negatively impacts on our future treatments.

#Institutional Abuse

Even when professionals know a little about EDS/HSD, the attitudes of the medical profession towards EDS/HSD patients are abysmal and abusive, and it is one of the two driving forces of the #YouSeeUs project.

In an ideal world, doctors in the UK, for example, would stick rigidly to the General Medical Council Guidelines and research the condition when EDS/HSD patients present in their office. We should also be referred to connective tissue disorder specialists.

Too often, this is not the case, and we're discharged from NHS services when we should be receiving further care and management.

A mixture of ignorance, disbelief and ego within the medical profession damages our health and our lives.

Some of us have come to avoid seeking emergency medical care when we need it due to the Institutional Abuse we endure day-after-day, year upon year, because of how we are treated by those who swore to help heal and to right injustices against patients...

Ignorance

Is No Excuse

It seems that rather than research or admit a lack of knowledge, some professionals prefer to exercise neglect and eject us from the service they are meant to be providing.

One of the most reported complaints of the EDS community is the way in which patients with confirmed diagnoses and years of EDS/HSD research are treated by medical professionals.

In the UK, we have the 'Expert Patient Programme', a highly prized health initiative designed to and hailed as giving patients power over their care.

What power do we have when too may doctors ignore our credible knowledge and experiences?

The fact a plethora of scientific EDS/HSD research exists in the database that medical professionals all over the world use during their studies and career, serves to reinforce that this attitude and such behaviour goes beyond a lack of knowledge and into the realm of ignorance.

For this, there is no excuse.

A plethora of research

exists, reinforcing that

bad attitudes go

beyond a lack

of knowledge into

ignorance.

For this, there is no excuse.

Patients Proved Right?

The problem behind Ehlers-Danlos Syndromes and Hypermobility Disorders is that our bodies do not make collagen properly.

Collagen is a protein, and around 80% of our body relies on some type of collagen for its strength (structural integrity).

Skin, tendons, ligaments, muscles, internal organs, teeth, bones, blood vessels...Various kinds of collagen are in them all. This means all of those things can be weaker, malfunction or damaged more easily.

As if this is not bad enough, as long as nearly 15 years ago, studies were being published that talked about Tenascin X (TNXB) and how this is also involved in some Bendy Bodies.

This stuff basically binds the collagen together, keeping them in their place. One way of looking at it is to imagine the collagen cells as bricks (made with material that's not up to par), with the TNXB being the mortar holding the bricks in place.

You could build a house with these bricks and this mortar, and it could look great.

But, with the bricks and the mortar being made with substandard material, the house will start to fall apart all over the place - especially if the wires and pipes inside were made of substandard stuff too.

The topic of TNXB has gathered interest and impetus in the last few years, and this physical fault may be why there have been cases of internal rupture in Hypermobility types, whereas it has long been held that Hypermobile patients never rupture.

While the medical profession have long held the stance that Hypermobile patients never rupture, people within the EDS community have disagreed with this for over 20 years. It seems that in the foreseeable future, we will finally be given more answers as to why there is more to these conditions than dislocating joints...

Not

Just Bendy

Life with EDS/HSD can be heartbreakingly hard. Pain often arrives around the onset of puberty, though it's been recorded that symptoms start at a mean age of 6.2 years-old.

We also know of toddlers who are in pain because of their connective tissue problems.

The social and psychological considerations that can accompany EDS/HSD are many and complicated. While some Stripeys can work full-time, go mountain biking, run marathons and live relatively normal lives, others are not so lucky.

As the involvement of gastrointestinal issues (GI) such as Gastroparesis and various Digestive Dysmotilities in EDS/HSD become increasingly recognised, documented and understood, and as the internet facilitates the exchange of information in the medical world and among online communities, we are seeing rising numbers of EDS/HSD patients needing surgical intervention in order to get fluids and nutrition into their bodies - and then to be able to pee and poo.

This sometimes takes the forms of various tubes that go through the skin directly into the digestive system or, in even more extreme cases, it can mean a line into the heart and the patient being totally reliant on liquid administered that way to provide what they need to stay alive.

The reason for these digestive issues isn't simple and could be a number of things, or a combination of many. In EDS/HSD, the oesophagus, stomach, intestines, bowel...

From lips to lavatory...Could be structurally impaired, so the tissues making up the system stretch and sag when they shouldn't, perhaps, and are unable to move things along in the way they should.

However, it could be something else...

It's not unusual for those with EDS and HSD to be accused

of exaggerating or

lying about symptoms.

(Fabricated Illness)

Feeling Autonomic

Dysfunction of the Autonomic Nervous System (Dysautonomia) is massively associated with EDS/HSD and often comes along with it.

The Autonomic Nervous System (ANS) controls our GI systems. If it's not working as it should, then it can kill the appetite and kill your body’s ability to take in, retain and digest fluids and food, fluids and medications.

Obviously some individuals with GI issues will have both factors playing against them - their tubes are made of faulty collagen and their ANS doesn't control the digestive system as it should.

Just as GI issues are being seen as increasingly significant when it comes to EDS/HSD, as are Dysautonomia and the ANS.

As you can see, on top of joints that dislocate or sublux (a full or partial dislocation without damage to the muscles, ligaments or tendons) in a crazily easy and frequent fashion, wounds that don't heal properly and reopen once stitches are removed, prolonged bleeding, pain all over the body, extreme exhaustion, fragile blood vessels, fragile internal organs...People with EDS/HSD have a lot to deal with, and it is not just about being bendy.

Some people are unable to drink or eat, and then what goes in must come out, and that's a whole other world of horrible.

Nil By Mouth

When EDS/HSD is severe, it leaves our bodies unable to do the simplest things. It's well recognised in the EDS/HSD world that the pain it causes is relentless, severe, life-limiting and can be almost impossible to control.

Often, only combinations of the strongest opiate and narcotic medications offer any relief.

Unfortunately, this leads to many of us being accused of drug-seeking behaviour, and pain relief is refused or even totally withdrawn, leaving patients to an existence of uncontrolled, intractable agony.

Why medication is less effective in some EDS/HSD bodies is still not understood, but could it be related to certain enzyme levels in Bendy bodies - or a lack thereof - and the way our bodies metabolise them?

It's also reported that nervous systems in EDS/HSD can become hypersensitive to externally inflicted pain -

we may be functioning with a level of pain most would be hospitalised at, but if we stub our toe, our pain is amplified and it feels like that toe has been torn off!

Other sensitisation shows up in other ways too.

Experts understand that some of us with EDS/HSD experience hypersensitivity to sound, light and physical sensation. What may be a comfortable volume or ambient noise one minute could be intensely uncomfortable the next.

Those socks that were so cosy last week are back in the drawer because every knitted stitch is rasping on the soles of our feet today.

While the physical sensitisation may be down to neurological damage or alteration in some cases, in general, it's not known what causes them. The perception of internal sensation can also be different in an EDS/HSD body, and some people will feel certain bodily functions that shouldn't normally be felt.

This is similar to some symptoms associated with Autism and interestingly, specialists say that the number of individuals with EDS/HSD and Autism is so statistically relevant that a link exists between the two.

What this is and what it means for the future is still a mystery.

Arguably one of the hardest things about EDS/HSD is that all this can go on inside, while on the outside, individuals look totally healthy and well. Aids like crutches, wheelchairs and splints all add a visibility, but it's not unusual for us to be accused of exaggerating or lying about symptoms by strangers in the street, loved-ones and medical professionals.

Challenge And Change

EDS/HSD may have no cure, though that’s not to say there’s no hope. Research is ongoing, even if bigger budgets are still needed so we see differences in our everyday experiences.

The most significant and helpful thing we can now do is to challenge current medical attitudes and the medical professionals making mistakes or exercising unacceptable practices, and create awareness of the condition. Doing these two things will bring about the change we so desperately need.

We (and the people who love us can) empower ourselves by and learning about EDS/HSD. In doing so, friends and family are more equipped to empathise and appreciate that Stripey struggles are very real - even the most basic physical actions.

Knowing what your daughter, son, sister, brother, mother, father, friend or partner is dealing with enables you to provide more effective practical and emotional support to be given.

If you're the one with EDS or an HSD, just knowing the basics and communicating them to medical teams can alter experiences of official care and treatment massively. If patients appear without any EDS/HSD knowledge, generally the professionals are not going to fill in the gaps and research it.

When a patient presents with knowledge of their condition, they have a chance of spotting when mistakes are made or important factors are ignored - after all, if you don’t know what’s right, how can you know what’s wrong?

This also imbues the situation with a level of expectation that the professionals will then research it too. By showing the medical field that patients understand EDS/HSD, we’re telling them they should understand it too.

And we won’t settle for anything less.

The wonderful thing about raising awareness and really helping the EDS/HSD community is that you don’t have to have the syndrome to do it.

Simply sharing features like this online and using our hashtag #WeSeeYou to help bring EDS/HSD into the public's mind is just a few clicks for you, but it means everything to those suffering with this potentially debilitating and sometimes fatal illness. We need your support...