"Suffering the Slings and Arrows of Outrageous Fortune"

Down the Rabbit Hole Essay and Primer

For those who have not fallen ‘down the rabbit hole‘, here is a quick primer on what it all means. The original post is also copied below for easy reference:
  1. 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.
  2. ‘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.
  3. 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.
  4. ‘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.
  5. ‘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.
  6. ‘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.
  7. ‘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…
  8. 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.
  9. 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.
  10. ‘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.
  11. 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.
  12. ‘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.

Advertisements

Comments on: "Down the Rabbit Hole Essay and Primer" (14)

  1. Thank you so much. I feel like this is truly our story too and you actually know what it’s like as we have been struggling many years to get help for our daughter. (Mass Phenotype, POTS, EDS, and I am certain we have un-diagnosed Mast Cell issues). I would love to share if possible. Your family is in my thoughts.

    • Thanks so much for reading and commenting. It is a never ending battle for our kids, isn’t it? But, not a battle we have a choice to walk away from. It helps to know that you are not alone. Feel free to share if you want – I am listening. You can comment further here or contact me by email (bethsmith92@live.com).

      Beth

  2. My son finally received a diagnosis yesterday. He was born with a congenital, progressive hearing loss (not common to EDS, at least with the severity and sensorineural nature of the loss), and kept developing a dizzying array of symptoms. Laryngomalacia that caused severe sleep apnea, severe reflux and gastroparesis (leading to a Nissen Fundoplication and g-tube placement for tube feeding), vision issues (astigmatism and myopia), vomiting attacks and fatigue. We were at a loss and terrified for his future. He never made it more than a few aisles in at the grocery store without wanting to be carried. He will simply sit down if he has to walk too far. He refuses to write in school (he is in Kindergarten). The leg pains finally became severe and we saw a pediatric rheumatologist. She diagnosed him with classical EDS. Fortunately she was able to give him a prescription for Zofran to head off the vomiting attacks when he gets them. We are to keep him well hydrated with gatorade. We are still not sure what to do when we go to a place that requires a lot of walking. He is getting too big for a stroller.

    The good thing about a diagnosis is that we know that doing continual surgeries will not be helpful (for the laryngomalacia, for example, which continues to recur despite supraglottoplasties). We also realize that the gastroparesis is likely to remain with him and we will need the mic-key button for the long term.

    I just wish we had the diagnosis from the start, as it would have explained the “progressive” nature of his symptoms!

    • I know how difficult a diagnosis of EDS can be, so you have my empathy. It certainly isn’t the end of the world, but sure can feel like it! Your son is incredibly fortunate to have a diagnosis so early – he has a great possibility of having good treatment/intervention that will make his future better since you have a name to put on his symptoms now. But, that is small comfort in the here-and-now when he struggles and when you know that if he could have been diagnosed earlier and maybe he could have been better off.

      Obviously, you are already very well informed about everything your son is dealing with, so I don’t need to tell you how important knowledge is in this battle. Definitely reach out to parents who are walking the same path. Although things are looking up in general for EDSers, it is still a very hard journey and getting support from others who know what you are going through is invaluable. On the other hand, getting a name that explains everything your child is experiencing is such a relief that a diagnosis seems like a blessing. Feel free to contact me here or through the contact form on the side bar – if I can help in any way, I am happy to.

      On a practical note regarding the stroller… I would recommend that you get a referral to PT/OT and see if they can hook you up with either a special, larger stroller or a wheelchair for when your son needs to conserve his energy and just can’t walk. I was not thrilled with the idea of a wheelchair but when we got Emily one, I was shocked at how it opened up her life. I didn’t realize how limited she was, until the wheel chair gave her the freedom to participate in life again. Honestly, the wheel chair was the single best choice we made, although it was hard in the beginning. PT/OT will be able to guide you to the best options for exactly what your son needs to function at his best.

      Good luck – do feel free to contact me if you would like!

      Beth

  3. Debra said:

    I found your site today and feel like I instantly have a new emotional “home!”

    My 26 year old (EDS,POTS, GP) is on her way to the ER right now for the 4th time in 10 days to deal with her pain flare. Being caregiver to a young adult has some interesting components to it – like “I am an adult – I can make my own appointments” and then the pain and brain fog and ER visits cause weeks to go by without making those calls, leaving no choice but another trip to the ER when the bone crushing pain and fire ants feeling in her skin. We still don’t have the answer to the simple question “Now who is your doctor?” because we are scattered across so many specialists in multiple states, each of which may take months to get an appointment!

    This afternoon’s call to me at work was littered with tears, foggy logic, anger and I love you’s with her insisting that I let her friend take her to the hospital and stay at work to get things done. She said “I will really need you when they admit me.” This is our crazy normal with this disease.

    Your clear, thoughtful writing and insight is a validating Godsend to those of us in the “rabbit hole!”

    Blessings.

    • Hate to hear that your daughter is struggling so. I hope your ‘crazy normal’ settles down soon!

      I dread the time when Em is an adult and has to take over her medical care. I have a few years, but I know it won’t be long enough to teach her everything she needs to know! How could it be, when I am learning as we go? You are so right about the many specialists who are holding the strings but nobody is really in charge. Incredibly frustrating!

      Good luck to you and your daughter – hope she finds some relief soon and you too!

      Beth

  4. Kindra Wild said:

    So beautiful and raw ad honest. I am 30 and just got diagnosed EDS type 3 last spring- despite having had this my whole life and no one having a clue– because of this, I endured much suffering. I have two children and can see the signs and symptoms all over them. I can’t work and I don’t qualify for Medicaid. I’m lost in the crack and the system and suffering. It’s unfortunate yet relieving to know that someone else out there understands the ‘Rabbit Hole’. I’m still searching for help and still not finding it anywhere. Many blessings to your family ❤

    • Thanks for commenting! I am so sorry you and your kids are suffering from EDS. I am glad my writings can help in any way but I sure hope you find relief somehow.

      Blessings to your family as well – I wish I had a magic wand to make everything better for you. I can pray though – and will.

      Beth

  5. andrea julian said:

    This is simply perfect.

  6. Cindy Wells said:

    Thanks for sharing your story. I can SO relate! My 15 year old was diagnosed at age 13 and had to stop all sports and her gymnastics too! She used to count all her injuries, but when we hit 30 something, she stopped. She has a Neurologist, Orthopedist, Opthamologist, Cardiologist, PT, Allergist, Hematologist, Geneticist, etc! She has ADHD, Scoliosis, EDS-3, (but testing for 1,2,4 and Von Willebrand’s now), Language Learning Disability, Genetic Broken Bones in both feet, Anxiety, PTSD, (she’s adopted), Possible early onset Glaucoma, Reactive Airway Disease, and an allergy to Flouride Dental Varnish…..We are, right now, on vacation as a family, and we spent tonight in the hospital since she felt chest pain and pressure. After 5 hours, they believe it was her Reactive Airway Disease and maybe Asthma that caused some of her symptoms, while the other (a stridor on inhalation), which didn’t resolve after an Albuterol Treatment, may be from a Vocal Cord problem. Oh, yippee….off to yet another specialist. Some days you just want to be on vacation from EDS!!! Anyways, I like your blog and would like to follow, but not sure how. Feel free to email me! Cindy Wells

    • If only we could take a vacation from EDS! I hope your daughter is feeling better and her symptoms resolve so you can enjoy your vacation!

      I am so glad you found my blog helpful and I really appreciate your comment. There is a button on the right side that you can click on to follow me, but I am going to send you an invitation via email since you asked. Feel free to ignore it if you are not interested! 🙂 You may be prompted to create an account, it is free and not difficult to do but if you don’t want to you should be able to follow with out making one.

  7. Thank you for expressing so eloquently the journey I struggle so hard to articulate to others. I have always loved Alice in Wonderland, and I think it is a great metaphor for the topsy-turvy world of life with EDS!

    • Thanks! I am glad you found the Alice in Wonderland comparison apt. I wish it weren’t, but it certainly is – some days more than others!

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

%d bloggers like this: