What is Ehlers Danlos syndrome? (and my experience with it)
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' (involving the heart, blood pressure, digestion, circulation etc.)
- Major and minor bleed vessel ruptures (most common in EDS type 4) splenic rupture, brain aneurysms, aortic dissection
- Serious problems with the digestive system such as gastroparesis (which sometimes requires a feeding tube) pancreatic and liver insufficiencies etc, and bowel problems
- 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.
- Spinal instability including C-spine (the neck) which is very painful, disabling, dangerous and usually 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
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 it, years of being ignored and neglected, and I am now fighting for life. Though my current doctors and nurse do support me better, and do what they can, the system here lacks resources.
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 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 AAI I'm dealing with full body weakness and joint pain (mobility issues) for in which I have to use canes and mobility scooter (driving with my collar on only), 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 have co-morbid Dysautonomia (POTS) 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 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 decrompession 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. 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?
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'm now dealing with this AAI instability, severe pain, losing my mobility, and I battle dysautonomia, GI complications like pancreatic insufficiency, IBS, GI dysmotility, and borderline diabetes. I am more prone to infections and have to be careful. 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 to me :( ... Although I've been functioning a little better than I should be considering my predicament, my functioning is still really limited and challenged. Every little thing I get to do with family or close friends is precious. I'm gradually getting worse though my body's trying to fight it. I experience very high (sometimes unbearable) pain levels (and have no choice but to use some 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, and I often use my mobility scooter (while wearing my neck collar.) All this will only gradually get worse without proper treatment. 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 get partially better. I try to take reasonable caution with my movements and lifestyle, and still manage to do 'some' things here and there, what I'm dealing with, left untreated, is degenerative and dangerous, and can take my life away from me completely. I am on borrowed time, and my quality of life is poor. In fact, even if I was to be on borrowed time, I'd me more ok with that than having such a poor life quality. I make it look a lot better than it is on places like instagram, because I don't want to 'depress' (including myself) but I will say that it is a lot worse than it looks. I am suffering a lot, and my family suffers being affected by this, too.
Taking it back, hoping for my second chance:
I long for my life back because I'm not done with it. I'm a passionate and sensitive person and a creative, fluid thinker. I have a bit of a childlike heart, and I'm a bit of a 'nerd' too (though also a rebel - my friends have described me as a 'nerd-rebel.') I love art, music, nature, food, fashion, my family, my friends and life. I'm a little different especially in my way of speech and mannerisms, because of being on the autistic spectrum. Sometimes this has been really hard and caused trauma, though it's made me who I am. I grew up in challenging and painful circumstances experiencing hardship, bullying and abuse for being different, and also just circumstantially. But I was a smart kid, and I learned to take care of and 'protect' myself young. I used my outlets to cope, like poetry, music, writing, fashion, and learning on my own time. I wanted to do more with it all but, I didn't always cope 'the best.' Especially as I got older. A lot of the needs I had were missed, and I only discovered them later when I have to get help for surface issues. They became 'uncovered.' This led me back to my passions finally, though unfortunately I was falling ill by my mid twenties.
Over the years I have produced heartfelt advocacy content such as blogs and youtube videos (starting as "a girl outside the box") to educate and help other adults on the autistic spectrum. It was also to try and help myself and heal. Aspergers is especially hard on girls and women, because it presents differently and is not often recognized properly. Many have been helped by my work, which I feel good about. I now focus more on my music and art, though combining this with advocacy messages.
The medical system here does not understand autistic adults very well, especially when we become sick, because we present differently, may panic more, behave differently, and experience sensory processing problems when they are acutely ill. They may make harsh judgements and wrongful assumptions which can be downright dangerous for the autistic adult. Autistic adults are more prone to genetic and autoimmune health problems which may be complex or unusual, like EDS. On top of that, the system here doesn't understand EDS and is 'zebra-phobic' about it. This is a bad double-whammy. It has been very scary, painful and felt dehumanizing for me and my self esteem. It has been hard to heal from trauma when I am constantly experiencing more trauma. With all the genuine diagnoses I have provided, I am supposed to have a 'care plan' now which would at least respond to me more humanely, but, as I have discovered it is not always fully honoured. Last time it wasn't honoured at all. I would give anything to have sanctuary from this.
I want to give back all that I can to those who pledge to my fund. So I continue to do my art and advocate, to the best of my abilities when I can, through social medias. Sometimes it feels like it's hard to 'go on' but my work, art and people I love, especially my kids, keep me going and keep me fighting, with a sense of purpose. I'm so passionate about life, about what I do, and the people who I love and care for. It hurts so much to go through this agonizing battle of slowly losing my life, because there's so much I feel I have yet to do.
My life has been tough due to my experiences and now I am losing my life. My greatest dream would be a second chance at life, and to be out of severe pain, so I could spend more time with my loved ones, experience joys, find peace, keep on doing my work and making a difference. I'm not ready to give up. I also believe that if my art, story and work is shared with many, It'll hugely help to raise awareness for EDS, autism, and the serious patient care quality issues related to this.