Society of Saints
  • Home
  • Blog
  • Links
  • Resources - Prayer
  • Resources - Prayer 2
  • Resources - Study Group
  • Resources - FBC Group
  • Resources - Listening to God
  • Resources - Other
  • Could God be real?
  • Could Catholicism be true?
  • Publications
  • About Us
  • Contact us

Ehlers Danlos Syndrome

3/11/2019

0 Comments

 
The following notes were compiled from various official Ehlers Danlos Syndrome websites, medical journal extracts, and blogs by people living with this genetic condition.

They were compiled to assist a friend, because many of the available websites are either too difficult to navigate or too full of precise medical terminology.

But the notes remain useful for anyone with this condition who needs to bring a new medical service provider up to speed quickly, and as a way of spreading awareness of the condition.

..............................................................................
Ehlers Danlos Syndrome
This syndrome belongs to a group of genetic connective tissue disorders.

Connective tissue is any type of biological tissue with an extensive extracellular matrix that supports, binds together, and protects organs.

In biology, the extracellular matrix is a three-dimensional network of extracellular macromolecules, such as collagen, enzymes, and glycoproteins, that provide structural and biochemical support of surrounding cells.

These tissues form a framework, or matrix, for the body, and are composed of two major structural protein molecules: collagen and elastin. There are many different types of collagen protein in each of the body's tissues.

Connective tissue diseases can have strong or weak inheritance risks, and can also be caused by environmental factors.

Collagen is the main structural protein in the extracellular space in the various connective tissues in the body. It is mostly found in fibrous tissues such as tendons, ligaments and skin.

Depending upon the degree of mineralization, collagen tissues may be rigid (bone), compliant (tendon), or have a gradient from rigid to compliant (cartilage). It is also abundant in corneas, blood vessels, the gut, intervertebral discs and the dentin in teeth.

A group of genetic disorders cause Ehlers-Danlos syndrome, which results in a defect in collagen production.

In most cases EDS is an inherited condition. The minority of cases are not inherited. This means that they occur via spontaneous gene mutations. Defects in the genes weaken the process and formation of collagen.

All of the genes listed below provide instructions on how to assemble collagen, except for ADAMTS2. That gene provides instructions for making the proteins that work with collagen. The genes that can cause EDS, while not a complete list, include:
  • ADAMTS2
  • COL1A1
  • COL1A2
  • COL3A1
  • COL5A1
  • COL6A2
  • PLOD1
  • TNXB
 
People with EDS may initially be misdiagnosed with hypochondriasis, depression, PoTS (postural tachycardia syndrome) or chronic fatigue syndrome.
  
What are the symptoms of EDS?

•Fragile tissue:
 Skin tearing,
 small blood vessels bursting,
 easy bruising,
 osteopenia (weaker than normal bones)

•Pain:
 Joints and muscles affected,
 loss of elasticity,
 disrupted signalling
    (e.g. proprioceptive dysfunction (difficulties in sensing where body parts actually are, clumsiness),
    dysautonomia (malfunction of the autonomic nervous system, which is responsible for maintaining a constant internal temperature, regulating breathing patterns, keeping blood pressure steady, and moderating the heart rate. It is also involved in pupil dilation, sexual arousal, and excretion),
    and dystonia (a movement disorder where muscles contract uncontrollably. The contraction causes the affected body part to twist involuntarily, resulting in repetitive movements or abnormal postures.))

•Other major symptoms:
 Fatigue,
 haemorrhaging (bleeding),
 constipation,
 gastro-oesophagal reflux,
 dyspnea (shortness of breath/ 'air hunger') ,
 respiratory and sleeping disturbances,
 random bradypnea (abnormally slow breathing rate),
 tachycardia (heart rate exceeding normal rate)
 bradycardia (heart rate slower than normal rate),
 unstable blood pressure,
 cognitive difficulties (eg brain fog)

Collagen holds the body together, so it's no wonder EDS patients' symptoms can be so diverse. With numerous medical specialities, it's easy to miss a collagen defect presenting in various ways within potentially every bodily system.
 
Not all EDS patients suffer from frequent dislocations.
A subluxation is an incomplete or partial dislocation of a joint or organ.

People with EDS may be constantly subluxing joints, and not be aware of it because to them it is normal. Subluxations in EDS involve the joints easily sliding in and out of position.

Treatment and management of EDS
There is no known cure.
Treatment is supportive in nature.

Physical therapy and bracing may help strengthen muscles and support joints.

While some forms of EDS result in a normal life expectancy, those that affect blood vessels generally decrease life expectancy.

The genetically non-typical collagen causes no degeneration in the body.

It is the damage that accumulates from the body compensating for the non-typical collagen which results in degeneration.

Collagen is stretchy-gluey stuff so a rubber band analogy may aid understanding.

Most of the time when you stretch a rubber band, it goes back to its original shape and position. However, as the rubber band ages the time taken for it to return to that original shape and position lengthens. Then eventually either the rubber band stretches and stays stretched or it breaks.

Collagen is affected by hormones, so its natural strength waxes and wanes. This means someone with EDS will have good days, bad days, and truly horrible days. Collagen is definitely impacted in a woman by her menstrual cycle, strongest at ovulation, weakest at pre-menstruation.

If you have seen a puppet or marionette on a set of strings, it is a useful image for describing EDS. Because the usual connective tissue is weak (tendons, ligaments etc), the muscles have to do extra duty to keep the body in alignment. With weak connective tissue the default is for the body to slump, so it takes extra effort from the muscles (and consequently extra energy) to stop the body from slumping.

Someone with EDS has to tread a fine line between not doing too little and not doing too much. Keeping still isn't an option because that reduces muscle tone. At the same time doing anything that over-stretches the muscles risks a subluxation, dislocation or muscle damage. This is why getting into and out of a vehicle can be very troublesome and why carrying anything remotely heavy is risky.

For the same reason keeping away from crowds, where the risk of being bumped out of alignment is high, is a good thing.

Anything that can be done to prevent a person with EDS from being pushed or pulled beyond what they know his/her body can take is important. They know what pace is within their limits, so any request for them to hurry is ultimately counter-productive.

Soft flexible braces to help the muscles keep the body in alignment and prevent major subluxations and dislocations are good, but can often be beyond the person's ability to put the braces on by themselves.

Mobility aids can be helpful on bad days, or when traversing distances beyond what energy levels can tolerate. However, if by using the walking stick or activating the wheels on the wheelchair too much pressure goes on the various parts of the upper limbs, any benefit can be negated. It is all a very fine balancing act to get the optimum mix of aids and effort.

The pain levels a person with EDS experiences are similar to or worse than rheumatoid arthritis.

Non-typical collagen has a big impact on the digestive system because collagen is a major component of the valves that open and shut in the various parts of the digestive tract, and in connecting the muscles that push what is inside the digestive system along. So if the valve between oesophagus and stomach isn't working well, gastric reflux happens (heartburn); if the stomach doesn't empty properly then bloating happens; if the contents move too slowly then pooling happens, the contents get harder and constipation results. With this kind of scenario for constipation you can also get the situation where there are spurts of watery leakage around hardened stools.

The jaw is also subject to subluxation and dislocation which can impact upon chewing and speech.

Surgery for someone with EDS is very risky due to how fragile and prone to tearing his/her connective tissue is. Recovery times are also longer than average post-surgery. In particular, orthopaedic surgeons need to be reminded that their EDS patients have non-typical muscle function.

Extreme caution should be exercised in helping get someone who has EDS up from a fallen position. Anyone likely to face such a task (eg family) should study and get training in how to help someone with EDS up from a fall correctly and/or be familiar with how to call for an ambulance and inform them how prone to subluxation and dislocation the patient is.

Getting in to and out of chairs and beds and vehicles is always something a person with EDS is cautious in doing. Should they begin to experience sudden changes in blood pressure when doing these activities, then they will need someone to watch over them carefully when they attempt these activities for the purpose of preventing falls.

If at all possible, exposure to infectious people should be reduced. The last thing a person with EDS wants is the extra worry of getting neck and jaw out of alignment due to sneezing or coughing.

Advancing stages of degeneration may see trouble with swallowing, voicing and speaking. To suddenly not be able to call for help is a frightening thing, so plans should be put in place to minimise this eg. Small bell to ring; ICE button on mobile phone set up, someone else within line of sight, one of the various Vital Call or Medical Alert systems in place.

When swallowing becomes troublesome, dental care becomes crucial due to food parts remaining in the mouth that didn't get swallowed. Mouth washes and similar may be needed. Dentists need to be informed why a patient cannot open mouth as wide as others and why their dentin is more fragile.

Physiotherapy with someone who understands the need for gentle exercise to maintain muscle tone, and can give guidance as to how to exercise gently at home, will be beneficial and help maintain quality of life.

Anything that can be done to help a person with EDS to keep their body in good posture is beneficial.

Even a regular person tires of holding a phone to the ear for too long. Some kind of blue-tooth ear piece for phone calls would make receiving anything longer than a short phone call more comfortable for a person with EDS.

Sometimes a person with EDS will experience bouts of 'brain fog' and disorientation. It is something they have no control over.
Rearranging a bathroom so that it is possible to shower while sitting down, can reduce levels of muscle fatigue in people with EDS.

Headaches and migraines are rather common, and sensitivity to light (photophobia) caused by dry eyes is also frequently reported by people with EDS.
​
Advancing stages of degeneration will see people with EDS deciding to no longer drive vehicles. This is because the fast and sudden requirements to put on the brakes or to swivel the head to check for danger become more difficult, and the increasing risk of having a dislocation that takes time to fix (which produces the fear 'Will I be able to get home?')
...............................................................
​
Below is a 5 x A4 page printer friendly version of this information
ehlersdanlossyndromepdf.pdf
File Size: 102 kb
File Type: pdf
Download File

You have permission to print it and share it.

Please offer up a prayer for all of those living with this condition and their families:

Dear God,
Please grant to all of those living with this medical condition the gift of swift and accurate medical diagnosis.
Their sufferings are normally silent and unseen, but very debilitating, and we know that You see what others do not,
that they are called by You to be imitators of the hidden life of Your Son Jesus who offered up prayer and entreaty, aloud and in silent tears on behalf of us all.
Please grant them special strength to deal with the uncertainties they face every day, and the pains and discomforts that attend those uncertainties.
Please send them assurance that they are loved by You, and that they have a special part in Your loving plan, and that You will always provide for what they need, down to the smallest details, and as lavishly as only You can. Amen. 
0 Comments

Your comment will be posted after it is approved.


Leave a Reply.

    Picture

    Archives

    January 2023
    December 2022
    November 2022
    October 2022
    September 2022
    August 2022
    July 2022
    June 2022
    May 2022
    April 2022
    March 2022
    February 2022
    January 2022
    December 2021
    November 2021
    October 2021
    September 2021
    August 2021
    July 2021
    June 2021
    May 2021
    April 2021
    March 2021
    February 2021
    January 2021
    December 2020
    November 2020
    October 2020
    September 2020
    August 2020
    July 2020
    June 2020
    May 2020
    April 2020
    March 2020
    February 2020
    January 2020
    December 2019
    November 2019
    October 2019
    September 2019
    August 2019
    July 2019
    June 2019
    May 2019
    April 2019
    March 2019
    February 2019
    January 2019
    December 2018
    November 2018
    October 2018
    September 2018
    August 2018
    July 2018
    June 2018
    May 2018
    April 2018
    March 2018
    February 2018
    January 2018
    December 2017
    November 2017
    October 2017
    September 2017
    August 2017
    July 2017
    June 2017
    May 2017
    April 2017
    March 2017
    February 2017
    January 2017
    December 2016
    November 2016
    October 2016
    September 2016
    August 2016
    July 2016
    June 2016
    May 2016
    April 2016
    March 2016
    February 2016
    January 2016
    December 2015
    November 2015
    October 2015
    September 2015
    August 2015
    July 2015
    June 2015
    May 2015
    April 2015
    March 2015
    February 2015
    January 2015
    December 2014
    November 2014
    October 2014
    September 2014
    August 2014
    July 2014
    May 2014
    April 2014
    February 2014
    October 2013
    September 2013
    May 2013
    April 2013

    Categories

    All
    10 Commandments
    1st Rite Of Reconciliation
    24 Hours For The Lord
    2nd Rite Of Reconciliation
    3rd Rite Of Reconciliation
    Abortion
    Active Participation
    Act Of Contrition
    Adoration Of The Blessed Sacrament
    Adultery
    Advent
    Agony Of Jesus In The Garden
    Anniversaries
    Apologetics
    Apostolic Nuncio
    Apparitions Of Our Lady
    Archbishop Porteous
    Archbishop Prowse
    Ark And Dove Week 2019
    Aussie Pilgrims
    Australian Prophetic Summit
    Baptism
    Be Prepared
    Berthe Petit
    Betty Cavanagh
    Book Review
    Broken Bay Diocese
    Building The Kingdom
    Burnout
    Cardinal Pell
    Caroline Chisholm
    Catechumenate
    Catholic Charismatic Renewal
    Catholic Church
    Catholic Newcomers
    Catholics Returning Home
    Catholic Tertiary Education
    Catholic Universities & Colleges
    Cautionary Tale
    CCR
    Central Coast Diocese
    Charisms
    Christian Book Publishing
    Christian Unity
    Church Fees
    Clean Vs Unclean
    Clericalism
    Comensoli Homily
    Commitment
    Communication
    Conference Design
    Conference/Summer School
    Confession
    Confession Of Sins
    Confirmation
    Consecration Prayer
    Consequences Of Rejecting God
    Conversation Answers
    Corruption
    Covenant Communities
    Creative Lectio Divina
    Culture
    Death
    Decision Making
    Decision Time
    Deliverance From Evil
    Denominations
    Desperate Situations
    Devotion
    Diaconate
    Diocesan Plan
    Disabilities
    Discernment
    Divine Mercy Sunday
    Divine Office
    Divine Renovation Conference DR16
    Divine Renovation Conference DR18
    Doctor Of The Church
    Dying
    Dying Process
    Easter
    Eastern Rite Liturgy
    Ecumenical
    Ecumenism
    Ehlers Danlos Syndrome
    Elder Technology
    Employment
    Encounter Jesus
    End Of Life Stories
    Engagement
    Eternal Perspective
    Eucharist
    Eucharistic Adoration
    Evangelii Gaudium
    Evangelisation
    Ewtn
    Exodus 90
    Expectant Faith
    Facilitating Connections
    Faith
    Families In Sorrow
    Family
    Fatima
    Federal Plebiscite
    Feminism
    First Communion
    First Line Welcomers
    First Nations
    First Nations Seminary
    Forgiveness
    Four Last Things
    Fr Bill Meacham
    Free Speech
    Fr George Kosicki
    Fr Hugh Thomas CSsR
    Friendship
    Gerald Coates
    Gift Of Tongues
    G.K.Chesterton
    Glorious Mysteries
    God's Decrees
    God's Love
    God's Modus Operandi
    God's Plan
    God's Reset
    Golden Jubilee
    Gospel Reflection
    Guest Blog
    Happy Meetings
    Hashtags
    Healing
    Helping Young People
    Holiness / Character
    Holy Communion
    Holy Door
    Holy Spirit
    Holy Thursday
    Holy Water
    Holy Wounds
    Homelessness
    Hospitality
    Hour Of Grace
    Human Traditions
    Human Vs Divine Solutions
    Hypocrisy
    ICCRS Charism School
    Ideas
    Immaculate Heart
    Inclusion
    Inclusive Language
    Inculturation
    Indigenous Peoples
    Indulgence
    Integrating Newcomers Into Parish Life
    Intercession
    Intercessory Prayer
    Interpretation
    Interpreting These Times
    Jennifer Eivaz
    Jesus
    Jim Murphy
    Joseph Chircop
    Joyful Mysteries
    Katherine Ruonala
    Kerygma
    Kingdom Wishlist
    Larry Sparks
    Leadership
    Leadership Structure
    Learning From Other Churches
    Lent
    LetUsPray2017
    Life Regrets
    Linda's House Of Hope
    Listening To God
    Litany
    Liturgy
    Liturgy Of The Hours
    Love In Action
    Making Disciples
    Marriage
    Marriage Preparation
    Married Spirituality
    Mary Queen Of Apostles
    Mass
    Mass Homily
    McCarrick Report
    Mental Health
    Mercy
    Message / Homily
    Ministry To Divorced Catholics
    Miracles
    Misery
    Mission
    Missionary Disciples
    Monthly Recollection Day
    Movements Of Grace
    Music
    Napoleon
    National Church Life Survey
    New Evangelisation
    Novena
    Obedience
    Obituary
    Obscure Saints
    Open Letter
    Open To Conversion
    Open To Reform
    Open To Renewal
    Opposition To God's Work
    Ordination
    Our Lady
    Our Lady Help Of Christians
    Our Lady Star Of The Sea
    Palliative Care
    Pandemic
    Parables
    Parents
    Parish Life
    Parish Meetings
    Parish Ministries
    Participant Guide
    Paschal Candle
    Patron Saint For The New Year
    Pentecost
    Personal Log
    Pilgrimage
    Plenary Council
    Plenary Council 2020
    Plenary Council 2021
    Plenary Council 2022
    Plenary Council Agenda
    Plenary Council Motions
    Plenary Council Process
    Plenary Council Proposals
    Plenary Council Theme 6
    Political Leaders
    Pope Benedict XVI
    Pope Francis
    Praise And Worship
    Prayer For A New Bishop
    Prayer Groups
    Prayer Of The Heart
    Prayer Request
    Prayers
    Preaching
    Preparation For Holy Mass
    Pre-Synod Youth 2018
    Priests
    Proclaim 2014
    Proclaim 2014 Conference
    Proclaim 2016
    Proclaim 2016 Conference
    Prophecy
    Prophetic Intercession
    Providence
    RCIA Rite Of Christian Initiation For Adults
    Rebuilt
    Recommended
    Reddit
    Renewal And Reform
    Reparation
    Repentance
    Resources
    Responding To God
    Rest
    Retaining New Catholics
    Revival
    Rosary
    Rosary Meditations
    Sacramental Preparation
    Sacramentals
    Sacrament Of Penance
    Sacraments
    Sacred Heart
    Sacred Scripture
    Sacrifice
    Salvation
    Scientists
    Signs Of Hope
    Silence
    Sin
    Social Distancing
    Social Media
    Social Media Apostolate
    Soft Evangelisation
    Spiritual Communion
    Spiritual Life
    Sr Margaret Wall Rsj
    St Anicetus
    StartupAusCC
    Stations Of The Resurrection
    Statistics
    St Augustine Zhao Rong
    Stewardship
    St Faustina
    St Francis Of Assisi
    St Gregory Of Narek
    St John The Baptist
    St Joseph
    St Raphael
    Strengths
    StrengthsFinder
    Suffering
    Summer Camp
    Summer School
    Surrender
    Survival
    Synod On The Family
    Synod Process
    #TakeTheAdventChallenge
    Teaching
    Teams Of Our Lady
    Teamwork
    Tertiary Study
    Testimonies
    Thanksgiving
    The Body Of Christ
    The Fight Back Plan
    Topics Of Controversy
    Tradition
    Trauma
    Trinity
    True Reverence
    Trusting In God
    Tsunami Of Grace
    Unity
    Unity In Diversity
    Via Lucis
    Virtual Pilgrimage
    Vision Casting
    Vocation
    Waiting On God
    Welcomers
    Welcoming Via Websites
    What Ordinary Holiness Looks Like
    #WhyRemainCatholic
    Wisdom
    WNFIN Challenge
    Women
    World Youth Day
    Worthwhile Charity
    Writing Christian Non Fiction
    Writing Christian Non-Fiction
    WYD Krakow
    Year Of Mercy
    Young Men
    Young Parents
    Youth Group
    Youth Synod 2018

    RSS Feed

Proudly powered by Weebly