- Falling down the rabbit hole The long process of realizing that all of those ‘quirks’ you have are not normal, up to and including the moment when you get an official diagnosis. The fall often includes numerous misdiagnoses such as growing pains, fibromyalgia, lupus, RA, MS, chronic fatigue and so on. The ‘fall’ can literally take decades for many people – from their earliest memories of knowing something is not quite right to finally getting a diagnosis in their 40’s, 50’s or 60’s.
- ‘Riddles Abound’ There are few true experts on EDS (in the world, maybe less than 10) and even they would admit they don’t know everything there is to know about the condition. When EDS was first named, it was thought of as primarily a skin and joint condition. 100 years (or so) later, we now recognize the serious role of gastrointestinal complications, the multitude of neurological symptoms from cervical instability and poor CSF drainage, the autonomic dysfunction, the dental,eye and throat issues, surgical complication, mast cell disease and much more. There are many more questions than there are answers – and even the answers we have don’t always lead to proper treatment.
- Pool of Tears EDS can severely disrupt one’s life and plans, although it doesn’t always. At best, EDS can send you on a minor detour through life. At worst, it steals your hopes, dreams and plans and, sometimes, even your life. You cry and rage and grieve and you eventually adjust. But, the grief of having dreams ‘stolen’ never really goes away.
- ‘A surreal task’ – One type of EDS (the vascular type) has a life expectancy of 50 years, although it can kill young. I am thankful that my daughter doesn’t have this type, but there is plenty to worry about with any of the types. It seems very strange to be thankful for something that causes such pain and suffering – but I am.
- ‘Mom knows best’ (see point 2) Unfortunately, other than the handful of experts, most doctors know precious little about this condition, while patients and parents have done hours of exhaustive research into understanding their own condition. Forums and internet contact with other patients give valuable, real life information that doctors do not have access to. EDSers would love to not be the expert on their own health but someone has to be. You quickly learn that knowledge is power, although the doctors don’t always approve of you having the power.
- ‘Impossible dislocations’ Did you know ribs and the lenses of the eye can dislocate? They can, as can vertebrae, SI joints, the jaw, and the tiny bones in the ear. Having a connective tissue disorder makes these dislocations relatively easy. Not to mention the frequent (for many, daily) dislocations of the large and small joints. And, yes, they can happen with absolutely no trauma whatsoever. Unless you consider rolling over in bed, standing up or typing traumatic. And, yes, it can be excruciatingly painful.
- ‘Co-morbid Conditions’ Gastroparesis, POTS, RSD, Raynauds, Mast Cell Disorders – Just a few of the (often rare) conditions that can go along with EDS. They each can be terribly debilitating and difficult to treat. As if daily dislocations weren’t enough…
- The White Rabbit Our figurative journey for answers and help – which always seem just out of reach. Sometimes we never quite seem to get anywhere, once in a while we make a little progress and, if we are really lucky, we can keep moving forward instead of loosing ground. Frustrating doesn’t begin to describe this journey.
- The Cheshire Cat Again, some people with EDS have few problems. Others, like my daughter, are very ill – the hypermobility and POTS and neurological symptoms have utterly transformed her life. All of the activities she enjoyed, especially gymnastics, are gone. It is a mixed blessing to be diagnosed young, before serious issues arise. The benefit is, kids are able to preserve their joints and thus avoid many of the problems those diagnosed late have – this is vital. The downside is that kids often have to avoid activities they may already love. It is a difficult balance to allow EDS kids to be kids and teach them to be wise but it is what we have to do.
- ‘Invisible Illness’ Truth is, you often cannot ‘see’ illness and EDS is only one example of an invisible illness. A person can be very ill and look perfectly normal. You might be tempted to say things like: ‘But you don’t look sick…’ or ‘You look so good…’ You won’t see hypermobility, unless you know what you are looking for. You cannot see pain or fatigue or dizziness or brain fog. And, folks who are ill typically prefer to not advertise their condition – being defined by your illness or disability is not something anyone desires. So, EDSers brace their joints under their clothing and wear ring splints that look like jewelry to stabilize their fingers and they try to pass as ‘normal’. When you see they are injured and ask ‘What did you do now?’, they might make a joke and change the subject. Instead of telling you they are not feeling well today, they go home and collapse when they have over done. “Normal” people don’t really like hanging out with sick, ‘handicapped’ people, so keeping it invisible can be self preservation.
- The Queen of Hearts You know how the Queen just randomly yells ‘Off with their Heads’ ? Some of our doctors make equally stupid comments. “EDS is too rare for you to have” – Hmm, I thought rare meant ‘uncommon’, not ‘impossible’… “You could be in the circus”– So, you think a life in a freak show, irreversibly damaging one’s joints, being laughed at and never feeling normal is a good thing?… “Oh, I wouldn’t even know how to treat that” …“Just eat your vegetables”... “What do you want me to do about it?”…“You are too young to be this ill“… and on and on and on. Yes, we have personally heard versions of all of these.
- ‘The weird world of EDS’ Ehlers Danlos Syndrome is an uncurable, genetic condition. The only cure will be to rewrite the affected genes and that technology is decades away. So, we are stuck making the best of it – treating the symptoms and trying to help each other. Public-funded foundations, support groups, patients and a small handful of caring doctors are leading the charge to fund research, improve early detection and current treatment, and promote awareness among medical professionals, in order to improve the lives of those living with this challenging condition.
Down The Rabbit Hole
I have come to realize exactly how much living with a chronic illness is like Alice falling ‘down the rabbit hole’. Having a child with Ehlers Danlos Syndrome, a rare genetic condition, is strangely akin to Alice’s experience of unexpectedly finding herself in a surreal land. Although Alice in Wonderland has never been one of my favorite stories, I find that I now have a bit more empathy for Alice and her adventures, having fallen down the proverbial rabbit hole myself! (1)
For my family, like Alice, it was a long, disorienting fall before we realized where the rabbit hole was going to transport us. The fall was long enough to be conscious of the change we were undergoing and to feel, in turns, anxious about what was happening and just plain ready for it to end. Finally, landing with a nerve-wracking thump, we got a diagnosis of EDS and we had to face the alien world we found ourselves in.
We found ourselves in a topsy-turvy world where little makes sense and riddles abound (2). Where my own personal ‘Pool of Tears’ (3) is topped off on a regular basis as I watch my daughter carving out a life amidst her challenges. Down the EDS rabbit hole, I have the surreal task of being thankful that the particular genetic mutation my daughter has won’t kill her, but will just make her suffer for the rest of her life (4). In this upside-down world, the doctors often know less than a mom with absolutely no medical training (5). Here, the simplest actions (like picking up a bottle of water or rolling over in bed) can, and frequently do, cause significant pain and even serious injuries. Body parts that ‘can’t’ dislocate, do; the ‘impossible’ is all too possible and ‘normal’ is a moving target (6). It is a land where nothing is as it seems and even necessary things like nutritious food can be harmful; where walking across the room is as challenging as running a marathon (7).
We haplessly follow the White Rabbit (8) to one specialist after another, as we deal with the host of co-morbid conditions that come along with Ehlers Danlos Syndrome, few of which the doctors seem to know anything about. Gymnastics, dance, soccer – all the trappings of a normal childhood have vanished, bit by bit, like the Cheshire Cat (9), and we have now a wheelchair and physical therapy in their place. Tea is served daily here, with large helpings of madness, as we learn to live with an invisible illness, in which my daughter and others like her, often look perfectly normal – young, beautiful and seemingly healthy – while actually being very, very ill (10). Instead of the Queen of Hearts shouting ‘off with their heads’, we have doctors who pat themselves on the back while spouting inane things like ‘You’re so flexible you could be in the circus’ or ‘Just eat your green vegetables and everything will be ok’. (11) If only I could do as Alice did: scatter them to the wind while defiantly shouting ‘You are nothing but a pack of cards!’ Alas, this is life with Ehlers Danlos Syndrome and there are no such simple solutions.
We have now more or less adjusted to this odd place, this decidedly UN-Wonderland, we find ourselves in and have settled in for the duration. Because, unlike Alice, we won’t ever get to wake up from the dream and go back to reality. This weird world of EDS is our reality and we are stuck here, like it or not (12). Our task now is to make the best of the situation that we are in – to mold and shape this world into a pleasant, habitable place. We will make it make sense and leave it a better place for the next generation, by educating the doctors and sharing awareness about this rare condition, by finding answers to the riddles of EDS, and by befriending other families who have tumbled down the same rabbit hole. For, although this is a lonely place at times, we are not alone – we share this journey with other EDS families who help us and whom we are blessed to help.
And perhaps, in time and with some hard work, we will eventually come to view this as Wonderland after all. Because, once you get used to the ‘upside-downness’, life here is somehow a bit, well, more real – more meaningful and precious than it was before we took our tumble. Perhaps, in some strange way, when we fell down the rabbit hole, we accidentally found reality instead of losing it.
If this is reality, I’d honestly rather not be here at all. Life with an incurable, chronic illness is hard and terrifying and exhausting. But, sometimes it is not only good, it is wonderful and amazing and brilliant. No, this isn’t the life I envisioned for my family, but it is our life and I have learned enough on this journey to be boundlessly grateful for it. Falling down the rabbit hole has a way of permanently rearranging your life and your priorities. Just ask Alice – or, better yet, anyone who lives with EDS.