FALL APART SYNDROME by Donna Williams

Glue me together and glue me well
or at least make me youthful so no-one could tell

perhaps skin of velvet, the skin of Snow White
ears without earlobes, a pixie's delight

the bruises must be that she's delicate made
the infections and allergies, the sensitive's lot,
the arthritis of childhood, we can medicate that
the fatigue and myalgia, lets get her a cat.

Immune system failing, supplements are at hand
Abdominal adhesions surgeons can't understand
Muscles that spasm and contract or just tear
Joints that keep clunking like a rust everywhere

Spinal Stenosis, spinal cord getting squeezed
Can't hold onto urine so don't dare to sneeze
Dysautonomia, bladder, bowel, breathing, temp, heart,
its all part and parcel of falling apart.

Machine to keep breathing now brain has forgot
a life of referals for goodness knows what.

A new label arrives for the jam jar once more

Ehlers-Danlos they call it, dreaded type number four.

DIAGNOSIS

In March 2013, following diagnosis of autonomic dysfunction, I saw a Clinical Pharmacologist/vascular specialist and was diagnosed with  a genetic connective tissue disorder - Ehlers-Danlos type 4... the vascular type.   So I'd have had this all my life.  

INCIDENCE

Ehlers Danlos Syndrome has a range of types, all are collagen disorders.  It is presently thought that most forms of EDS affect around 1 in 5000 people.  The vascular form is EDS4, also called EDSIV or VEDS.  This form is presently thought to affect 1 in around 25,000 people.  Unlike most forms of EDS, VEDS is presently known to shorten life span with around 20% of those with it dying from ruptures by their 20s and around 90% of those with it dying from ruptures by age 48.  Clearly I'm in the 10% who hasn't ruptured by age 48.  

FAMILY HISTORY
EDS IV is usually familial, can skip a generation, skip some siblings but can also spontaneously appear in a family its never occurred in - called a de novo mutation. One of my cousins dislocated both hips at age 5 and later survived burst brain aneurisms in her early 30s, another survived uterine rupture in her mid 30s, another survived spleen rupture at age 24, and my brother had diverticulitis which in folks with EDS4 can be the forerunner to bowel rupture. and my maternal great grandmother died from peritonitis (today's uterine rupture) after giving birth to her last child.  

LIFE EXPECTANCY
Whilst average life expectancy is 40, some have made it to their fifties and still going to 65.  Another lived to 73 years old.  Whilst EDS IV is generally thought of as autosomal dominant, in some people its apparently polygenic, meaning the severity any family member gets may depend on the mix of mutations both parents contribute. 

SYMPTOMS

EDS can commonly go with dysautonomic issues and the arthralgia. Vascular EDS is not good news but probably explains a lot of my health complications including on the gut and immune front as it can cause functional malnutrition... so very glad I've been supplementing since late childhood.  It would also explain my 'shy veins' (7 tries for a vein before they went for my feet, only baby needles work and I need to immerse my hand in hot water for 10 min before we have any luck), the 15 cm bruise I had from the IV during chemo, all the abdominal adhesions found during my ovary op in my 30s (the perplexed surgeon thought I must have had previous multiple abdominal surgeries), why one of my healed mastectomy scars has widened (the middle of it is now 1 inch in width), the umbilical hernia I got in my 30s, my spine issues, the bowel issues, the popping veins in my fingers, CFS/FM history, tendency to edema, joint (ankles, knees, hips) subluxations since my 20s, my diagnosis with juvenile arthritis in late childhood, and upper respiratory tract infections, very easy large bruises, being extremely pale, bleeding gums and circulatory issues since childhood, pulsatile tinnitus etc.   The two benefits were hypermobility in my spine (I can get my feet to my shoulders), hips (can still do the splits) and shoulder joints (can link my arms up my back) but not much use except for momentarily impressive party tricks and young looking velvety skin (but older looking hands). 

EDS AND AUTISM

EDS comes with things like autonomic dysfunction, arrhythmia/tachycardia/panic attacks, brain fog/cognitive dysfunction, bowel issues, early history of upper respiratory infections and allergies, hypermobility, hypotonia.  A percentage of those with EDS have developmental disabilities including autism.  Collagen plays a role in immune regulation, brain development, as well as all connective tissue in the body.  Ehlers Danlos is a collagen disorder, effecting connective tissue throughout the body.  The two can occur and the child of one of my cousins is hypermobile, has some of the health picture of EDS and is diagnosed with autism. 

LIVING WITH VEDS

I know EDS IV is thought to be a 'death sentence' but we actually don't know if that's based on only counting those who were known to have had it because they ruptured.  In other words how many people with undiagnosed VEDS may be out there who haven't ruptured we just don't know.  But regardless I actually feel really lucky! I have really enjoyed the good, bad and ugly.  I've made the most of my life, its been a wonderful ride, a wild ride, an adventure.  I have known all the textures, colors, highs and lows.  I have made the best with all I have.  I am the master of 'take shit and make sculptures'.  So if EDS 4 burst a few veins tomorrow and killed me, or ruptured my bowel, well so be it.  In 2014 I was, like my younger brother, diagnosed with Diverticular Disease which in my case is likely EDSIV related.  If only 2% of those who have bowel rupture die from it and an ostomy bag could be my future, so what!  I'd still get to enjoy life till it was just not going to sustain me any more. 

Other folks with EDS 4 died by their teens, 20s, 30s, 40s... I'm 49 so having a very long life with it! Also many have far worse health issues with it that me.  I have ambition to become the oldest living person with EDS 4.  A woman aged 58 wrote she is the oldest her doctor knows of.  Then I read a post by a woman who is 65 with EDS 4 and then I heard from others in their 50s and heard of a man who made it to 68... sure doing it real tough by then with fall apart syndrome... but at 49 they make me feel not like I have a death sentence hanging over me, but like I have a longevity challenge to live up to.

Dysautonomic issues, (difficulty regulating temperature, heart rate, BP, digestion, bowel/bladder, swallowing, breathing) are common in POTS as part of EDS but central apnea is not.  Progressively supplementation of sodium, citrulline, calcium, magnesium got the dysautonomic issues regulated again leading to suspicion of salt wasting.  On 8 grams of sodium daily my blood and urine sodium were still normal.  When I dropped sodium down to 2.5grams a day I had severe polyuria (peeing 5-8 litres a day) which returned to normal when I put the sodium back up to 5grams a day.  I don't like taking that much sodium a day but my body seems to behave best when I do.