What is Ehlers Danlos syndrome? (and my experience with it)

Fall 2018,

Ehlers-Danlos syndrome  (EDS) is an unusual but serious genetic connective tissue disorder. It is systemic (causes many problems.) In fact it's so unusual that it's official mascot is the zebra. EDS causes weakened collagen (your body's 'glue.') It is very painful and degenerative, causing many problems that are difficult and intricate to treat. There is a serious problem with lack of access to proper care for many EDS patients. This is causing immense suffering for patients and their families. EDS patients are often not believed or acknowledged until it is too late. We need awareness because we need better access to care, and research.

EDS may cause Problems such as;

- Severe pain due to constant injuring and wear and tear

- Loss of mobility (needing canes, wheelchairs, scooters, power chairs, and help to take care of oneself.)

 - Autonomic nervous system disease aka. 'Dysautonomia', which is a common comorbid condition in people with several types of chronic illness (or occurs on it’s own.) Dysautonomia currently affects 70 million people worldwide, more suffering undiagnosed and lacking in resources. Dysautonomia can be very debilitating; it involves the heart, blood pressure, digestion, circulation etc.) for more information see dinet.org

- Major and minor bleed vessel ruptures (most common in EDS type 4) splenic rupture, brain aneurysms, aortic dissection

- Heart valve problems, heart murmurs, electrical conduction abnormalities etc..

- Serious problems with the digestive system such as; gastroparesis (which sometimes requires a feeding tube), malabsorption disorders causing vitamin deficiencies (which can lead to debilitating symptoms), pancreatic and liver insufficiencies etc, bowel problems which often require medication and can sometimes become serious (intestinal pseudo obstruction)

- Urinary complications such as frequent UTIs and risk of kidney infections, and problems with bladder control

- Neurological problems 

- Endocrine imbalances; adrenal imbalances, blood sugar imbalances etc.

- In women; uterine/pelvic prolapse, uterine rupture, pregnancy complications

- Spinal instability, including Atlantoaxial instability and cervical instability, which is very painful, disabling, dangerous and usually eventually requires life saving surgery

- Chiari malformation, herniation of the brain stem pushing down into the spine, which is also very painful, disabling, dangerous and usually requires life saving surgery

- Tethered chord

Etc….

EDS is a mysterious and mostly invisible but nasty condition which crucially needs more medical and public awareness. Lack of awareness and education is causing the majority of EDS patients to lack access to proper healthcare, to suffer physically and emotionally, and their lives put at risk, unnecessarily.

I feel this burn personally. I have been through hell with EDS; years of being ignored and neglected, and I am now fighting for my life - quality and safety wise. Though my current doctors and nurse do support me better, and do what they can, the system here lacks resources, and I am still not receiving much of the treatment I really need.

EDS is a connective tissue disorder which is caused by weakened collagen (your body's glue.) People with EDS have hyper mobile, loose and unstable joints, soft sometimes stretchy skin that can bruise easily, and can have more fragile veins. This causes constant painful injuring like joint dislocating, subluxing, larger or smaller tearing, easy bruising, organ rupture (last one much more common in EDS 4) etc.

People with EDS can often appear young and superficially 'well' looking, because of the soft skin. This results in medical and societal disbelief, judgement and assumptions (ie. "he/she is only wearing those braces because they are attention-seeking.")

While there's currently no cure for EDS, because it is genetic and one is born with it, there are treatments and interventions which can make life easier by prolonging life and life quality, and reducing pain.

However, myself and many others continue to lack access to most of these treatments. Instead we are neglected and traumatized by our local medical systems. There is continual lack of resources and treatments for the complications of EDS, and the medical systems' overall attitude towards people with EDS is often very ignorant or negative. For example, many specialists will 'reject' seeing a patient once they hear that they have EDS. (GI, cardiology, even rheumatology, etc.) Sometimes I have called this "zebraphobia" - it is not ok! But it has happened to me, and others, many times. Major awareness about this needs to happen so change can happen.

Poor treatment of EDS patients is a human rights issue.

Despite misconceptions, healthcare in Canada (where I live) is not 'good'. In fact Canadians would agree that there's a lot to be said about how broken and under funded the system really is, especially in our province of BC. This results in tight healthcare rationing. EDS patients and others with rare or complex diseases get the brunt of this. I think it's so harsh to throw vulnerable people to the bottom of the barrel' because they are too 'difficult' to treat. Doctors shouldn't be allowed to do this, yet they are. Canada has a very serious problem with lack of EDS awareness and care especially. In Canada (and many other places of the world) EDS is an orphan disease and patients with EDS suffer a lot. I had to travel to MD, USA to be properly diagnosed with AAI C-spine instability by EDS specializing neurosurgeon Dr. Henderson. He had to order a specialized upright MRI and a rotational (turning the head) CT scan. 

The nature of EDS' problems can be so unusual that they may be 'missed' in most typical testing. Doctors really have to know 'how' to test things in EDS, which are often but not always functional disorders , so this can result in disbelief and dismissal (and then later a potential emergency.) In spite of this, EDS is a really serious condition, causing many problems stucturally and internally.

In addition to the C spine instability I'm dealing with full body weakness and joint pain (mobility issues) for in which I have to use canes and a power wheelchair (driving with my collar on), as well as pancreatic insufficiency, gallbladder functioning problems, and pre diabetes which may be related to endocrine problems. I have to take medications like pancreas enzymes and ursodiol, to better digest my foods. I am on medication (beta blockers) for POTS (post orthostatic tachycardia syndrome) which is a form of Dysautonomia - which basically means 'dysfunctional autonomic nervous system." It is likely caused by the neck. It can be very scary as it can cause problems with heart rate, blood pressure, gastric emptying etc. I have to take meds and get weekly IV hydration for that. My neck problem is likely the main cause of the Dysautonomia, though internal problems can contribute too.

Dysautonomia is common in EDS, and it is another very poorly understood condition in Canada. There are only a few doctors who understand it. This causes a lot of people to suffer also. Doctors who deal with dysautonomia have to have a strong understanding of not just the heart, but many other body systems and internal medicine. There's a huge shortage of doctors who specialize in Dysautonomia. With EDS patients, there's a chance dysautonomia can go away or reduce a lot, following a proper C-spine fusion and/or brainstem decompession surgery.

There are more cases of EDS being diagnosed than before and it is no longer considered 'rare.' However it is still under-diagnosed. Exposure to trauma and lack of earlier diagnosis/intervention and thus proper physiotherapies in childhood may trigger it to become worse in adulthood. This is what happened to me.

EDS causes weakened collagen, constant body injuries and potentially serious problems. It is very painful, life limiting, financially taxing to maintain, and complications of it can sometimes become really serious. People have have EDS have to become warriors, basically .. and most of us do so. Many people with EDS experience no access to preventative therapies and physio, and partly or completely losing their functioning, their ability to work, to have any kind of career, or life. They even end up being fully cared by family, or care homes, if family cannot. This may not need to happen. The gross lack of public and medical awareness, which has resulted in neglect, unfair assumptions and abuse, may be what's really responsible for most of this. So my question is: Why is this being tolerated?

My experience with EDS:

Written in the fall of 2018 (with some annoted updates) ;

I've been debilitated by EDS and it's complications and affects, in the past few years especially. I was diagnosed by a geneticist as 'more severely affected'...but I went through absolute hell just to even be diagnosed. I was treated poorly, misdiagnosed and pathalogized for years, which affected my self esteem. It didn't help that I am autistic (diagnosed Asperger syndrome) and so my attempts to communicate and ask for help were further misunderstood and mis-perceived. I blogged about this as an overview of the timeline from the last decade or so, plus the blogs about growing up with undiagnosed EDS. I also blogged about my horror story around trying to obtain an official EDS diagnosis, and the trouble I ran into, which cost me a lot in stress, money, time and physical health.

I am now dealing with this cervical instability (c1-c5) and severe pain due to that (which is gradually getting worse over time), losing my mobility, fatigue, weakness, dysautonomia, GI complications like pancreatic insufficiency, IBS, GI dysmotility, malabsorption issues (which I try to supplement) and diabetes. I am more prone to infections and have to be careful. I’ve also had a lot of painful and difficult jaw and teeth problems due to EDS. This has been costly and tedious, and is too expensive for me to fix in an ideal way. For this reason, I am forced to live with partial dentures, which is hard for me to talk about and difficult for me to live with (hard on my confidence at times.) Chewing is still painful because I have TMJ, the dentures’ look natural enough but the bite is not adequate and they need to be replaced. I’ve not been able to afford this as of yet. It is another challenge to eating on top of my GI challenges. My dysautonomia is partly stable with the help of meds and weekly IV (my internal med doctor supports me in this) but there's a good chance it could go away entirely, or somewhat, with successful C-spine surgery. In EDS, unstable C-spine is a main cause of dysautonomia. 

I'm tough and ambitious. I don't like to show or talk much about it when I'm having 'rough patches' like acute flare ups and attacks, or extreme exhaustion periods, so I usually don't. I'm in grief during those time periods too, because I hate it and it's often hard to find words. I'm literally bedridden, and I tend to 'shut down.' I try to brave and push my way through things as much as I can (though sometimes I can't help but panic, because it's scary..) I have been striving to 'rise above', 'steal joys' and do life, as much as I can for the past few years, in spite of a downward slide in my health. Artistic and creative expression, and creatively cooking for my family when I can, helps me cope with pain, and trauma from being treated poorly due to being an EDS patient with limited income, and an adult on the autistic spectrum who is a bit 'different.'

There's so much I have to miss out on though. There are so many things I want to go out and do with my kids, but I rarely get to, as being upright for prolonged periods is hard (this summer, I did help my son make and sell smoothies in our neighbourhood - which was challenging but important to me, and him.) I want to be able to do more in my life, with my close friends and family, and especially with my sons. All this has felt so very disheartening. Although I've been functioning a little better than I should be considering my predicament, my functioning is still limited and challenged. Every little thing I get to do with family or close friends is super precious. I experience very high (sometimes unbearable) pain levels and have no choice but to depend on pain meds to get through.

Sometimes I have downright frightening symptoms. I'm 'on a leash' because of this c-spine instability especially, which is very painful, weakening, and movement limiting. Everything I do takes me four or five times more energy than an average person (my muscles have to work hard to hold me together, or I can injure/dislocate - which can be dangerous in the neck area.) Though I can walk it is difficult to be upright exerting. I used to use my mobility scooter (with my collar on) however, it died this past summer :( .. I miss it! **update I got a power chair in 2020

All this will only gradually get worse without more access to the right treatments, which is why I am selling my music and work via pledge fundraiser. Though some of this is the EDS, a lot of it is the neck - making me weaker and preventing me from being able to do strengthening physio. If the neck was fixed, I could potentially experience 50-75% improvement in my life quality - which to me is a lot. I would be so over the moon, with this. I try to take reasonable caution with my movements and lifestyle, and still manage to do 'some' things here and there, but what I'm dealing with, left untreated, is degenerative and shortening of lifespan.

I’m basically on borrowed time, and my quality of life is pretty poor. In fact, even if I was to be on borrowed time, I'd be more ok with that than having such a poor life quality. I think I make it look a bit better than it really is, on places like instagram, because I don't want to 'depress' too much (including myself) but I will say that it is worse than it looks. I’m suffering a lot, and my family suffers being affected by this, too, but I have not given up. I need my faith; I have to be spiritual to get through!

I know I can’t give up, so I keep pushing, doing what I’m doing!

• Scarlit Rose Ashcraft