A look back on the transcription of my neurology appointment .
Learning to live with Hypermobile Ehlers-Danlos Syndrome (hEDS) is not for the faint of heart. Everyone’s journey to diagnosis and beyond is completely individual. I would argue that while we share some similarities in our stories of how we got to our diagnoses…there is a vast difference between those who grow up ‘sick’ and those of us who lived our lives with a set of symptoms without benefit of a diagnosis. Here is my point: if you grow up knowing you have hEDS from the day you are born…that IS your normal. But what happens when you grow up not feeling well but you are still functional (friends, school, jobs) and THEN the syndrome progresses?? My supposition is that those two journeys are distinctly different.
I can’t speak to growing up knowing you have hEDS from a young age but I can share what it was like being diagnosed at age 36 after searching my entire adult life for answers. Initially, there is a honeymoon period after diagnosis where you are just so stinkin’ happy to have a name to put on your symptoms. Someone actually believed you after, what is most often, many years of belittling, doubting docs telling you that all you need is psychiatric care! This ‘diagnosis high’ as I call, can last anywhere from a few days to years. For me it was the latter. I was so relieved and astonished and happy that after 18 LONG years, someone had actually validated my symptoms. But what happens after that??
I was fully functional at the point of diagnosis…I had a job and friends and a life. Did I have pain and skin issues and digestion issues?? Sure, but they didn’t stop my life. Probably, the best gift I was ever given was from the rheumatologist who made the diagnosis. She said, “I think this is what you have, (handed me an article on Benign Joint Hypermobility Syndrome, which was what hEDS was called back in the day) it’s not life-threatening so go out and live your life.” And I did!
Four years later at the age of 40, I was unable to stand or walk for more than a minute. But imagine what might have happened if my doctor told me that this was coming?? She didn’t know if I would be one of the unlucky ones whose symptoms would progress or rather, remain benign. She gave me the gift of four years full of life because she didn’t assume the worst and plant seeds of worry in my already overactive brain!!
When I turned 40 and my body started breaking down, I had my first appointment with Dr. Brad Tinkle, world-renowned geneticist and expert on The Ehlers-Danlos Spectrum disorders. This guy wrote the book on hEDS…literally! I was skeptical as I went into our first appointment and even passive aggressive. History had taught me that best-case scenario, he would be aware of the topic, but have no helpful insights and worst case scenario, he would belittle my symptoms and demean my intelligence with a smug comments that would make Napolean look like Pollyanna.
Lucky for me he was patient and kind, and took over an hour to talk to me about hEDS and what this meant for my future. He told me in no uncertain terms that I needed to learn to pace myself…I could do many of the same things just not in the same way or at the same time. He created a protocol to manage the symptoms including pain, told me to quit travelling 180 days a year and come back same time next year.
As this new reality began to sink in, I went into a deep depression which was novel for me….not something I’m used to feeling. This downturn in my health caught me completely off guard. (I NOW know that being only slightly symptomatic and then having more symptoms pop up suddenly in your 30’s or 40’s is pretty common.) I was pretty ill but was hoping I could find my way back to a better quality of life. On some level, I knew that things were never going to be the way they were.
I started the grieving process for the life I’d already lived. It was as real and profound as any death. I grieved for the career I’d loved and lost. I grieved for the education I’d obtained and now could not use (3 Master’s degrees later!) I lost nearly every friend I’d ever had. And I lost myself. I didn’t recognize this person in the mirror who frankly looked like death on a cracker! What I now know, standing at this point in my journey is that you MUST allow yourself time to grieve the losses of the life you had and learn to live a new life. You must learn to let go and hold on all at the same time. And finally, it’s ok for grief to visit, just don’t let it take up permanent residence!
When you are diagnosed with any chronic condition, I think you have 2 options…
2. learn to fight
I’ll be honest…I floated for a long time…almost paralyzed by this new reality. I couldn’t see how I could loose all the things in my life that I thought mattered most (family, friends, career, mobility) and still have a life worth living. But after some time, and some better living through chemistry, I realized that there was beauty and joy in the world and that I could be a part of it (as long as I could sit!).
Here’s what I did, in no particular order:
1. Researched everything I could get my hands on about hEDS…knowledge is power
2. Researched medications…pharmacists are tremendous resources for info
3. Researched alternative or complimentary therapies
4. Began therapeutic massage, acupuncture, pilates, and physical therapy
5. Changed my hair, clothes, and work schedule to better accommodate my new symptoms
6. Altered my diet
7. Learned to meditate
8. Relied on family and faith…I drew tremendous strength from being ‘re-grounded’ in those relationships
Once the depression started to lift, I began to see the world through a completely different lens. Gratitude filled my spirit because I knew all too well, that things could be worse…a lot worse. It sounds cliché but it was as if the colors in the world where just a little bit brighter and I heard the sounds of the river flowing with greater clarity than Bose could ever dream about! Chronic illness has a way of instantly rearranging your priorities…things that were once super important are now at the bottom of the list.
One of the ways I cope is via humor. Generally speaking, I am a very positive, emotionally even-keeled, person but am known to appreciate irony and a good joke. If ever there was a condition that stood out for it’s comedic opportunities, it’s hEDS!
Think about it…the building material that makes of 80% of the soft tissues in your body is faulty and they can’t fix it or replace it and it’s only going to get worse as you age!! I can’t make this stuff up!! My instagram feed became an outlet for this humor and the realistic hEDS anecdotes that honestly fill my everyday life.
People often say to me questioningly, “So…you have this progressive chronic condition that caused problems in every body system and you live in constant pain…how can you be so positive?” The brutal truth answer: “What’s the alternative? Be miserable?” Not for this girl.
I returned to Dr. Tinkle one year later with local goodies from the town confectioner as a peace offering from my rather curt behavior a year before. At the end of our appointment as he walked me down the hall, he remarked with surprise, “You are a completely different person!” I thought for a moment and replied, “No, I’m not…I’m the same girl I used to be…it’s just that now I’m listened to and believed and am getting compassionate and quality medical care.”
Hello May, hello one year diagnoses, hello pieces of the puzzle I knew existed.
In short this is my story and contribution to Ehlers Danlos awareness month for 2017. For now, until the genotyping has been completed, and the source of our major malfunction has been revealed, awareness is the voice we have to lend hope to our struggle.
I suppose these are my annotated frustrations from this afternoon's interaction with a physician. I will not divulge their name, specialty, or any information that can be misconstrued as defamation, for that is not my intention. Just my accounts of an interaction that was not necessarily medically accurate. I will also refer to this person as, "the other party" or TOP throughout in an effort to remove myself from any unnecessary negative associations, because that's just not necessary.
Inaccuracy #1 - I was not asked what my symptoms were when TOP walked in the door. I got the perfunctory hand shake/"nice to meet you" and bam "your MRI is absolutely normal." (First of all why start with that, and so emphatically using large hand gestures) "Okay , but the pain in my neck? It's causing strain and headaches." To which the other party responded "Ehlers-Danlos is not know to have chronic pain." To which I of course responded "of course it is." I felt myself getting very angry, and I grabbed the paper I had brought to help mediate our interaction, to try and be as productive as possible, entitled "Neurological and spinal manifestations of the Ehlers-Danlos Syndromes" and began to express my concern for a condition which was explained in the article, and fit the bill for what I was experiencing, as I handed the paper over. TOP took it from my hand and placed it immediately back on the chair next to my purse and said "Ehlers-Danlos does not present with [these] symptoms." I responded "If it does not present itself with [these]symptoms then why is there a paper on it?" TOP mumbled "American Journal of Medical Genetics, no," as they laid the article down.
Inaccuracy #2 - TOP also kept referring to a college friend who had Ehlers-Danlos throughout our interaction, and that he passed young from a vascular issue in his brain. Towards the end of our interaction TOP again referred to this friend, and said "but they have the genes figured out for all of the different types now." I responded "no they do not. They have not found the responsible gene for the hypermobile type." TOP responded "well my friend had type four." I said " they don't use that terminology anymore, there was a new international classification released on the 15th," then mumbled something I had a hard time deciphering.
Let's be honest, sometimes talking to a Dr. is like trying to hit a rubber wall with a with a piece of fly paper. You'll never get your point across, or anywhere for that matter because the other person in the room is not willing to listen. While this most definitely can, and DOES, happen with any random person you encounter, it definitely put me off for a moment. I have had a few great encounters with physicians. To be honest I know there are amazing doctors out there, I just haven't been physically in the presence of any who are interested in the pain, or the symptoms that I am experiencing. I can name people, but that would not take into account the dynamics influencing the other party. I understand the physician walking in the door who has never seen you may or may not have a million things running through their heads that day too. I also never wish to turn any personal documentation, post, opinion into a doctor bashing session. That just is not productive, and who has time to let situations that never gave you a road to journey down in the first place, your precious time or theirs?
I also wish to clarify that I am grateful for every single person/physician who devotes their life's energy to science, medicine, and being proficient in the art of human connection, and healing. I know there are enough caring physicians out there, that I WILL interact with one, or many of them. Physicians are people, sometimes it doesn't work out and that's always okay. I just realized that I am thirty-four and I can count the good experiences on one hand. The thought of hope that one of those encounters is in my future is reassuring. It was just hard for me to hit such a huge psychological wall only eight days after so much amazing and pertinent information has been released, referring to the 2017 International Classification of the Ehlers-Danlos Syndromes. Then my first appointment to be with someone so clearly not up to date on current information regarding Ehlers-Danlos or how it effects the body. There were many other glaring inconsistencies, and I literally almost walked out, but thought TOP deserved my full attention, as I wanted to have theirs.
While I realize the majority of this article is negative. So negative right. It's just an experience, a lesson. So many bad experiences. What key intent am I lacking, am I missing? I feel like I've been working so hard to be aware of my emotional responses and how they effect and aggravate an interaction. I almost feel like I should record my interactions to learn. What do you do in these situations?
Logic - Brush it off, focus on the positive experiences. Go plant sniffing in the garden (serious though).
Brain - &#^@)$(@^$)!_!^$*(#)+#@*@) <---- do you see the accidental bunny?
See there's a silver lining in everything. Don't let poopy situations get you down. Maybe I'm just not good at self-advocating. I know I shut down easily once a conversation starts to go south. My point is your general "don't let one bad apple" bit, there are more apples...you get it right? While you also have to not be the bad apple yourself, sometimes relations won't work out in the first place, and that may lead you down the road you need to be on. Keep looking for those things that nourish your soul. Hitting a wall doesn't mean it's the end by any means. Chronic pain, depression, and multi-systemic disorders are a labyrinth. Hitting one wall means you need to go in another direction to get through.
This freshly released collaboration of research articles, compiling hundreds of pages of research driven encapsulations of the varying manifestations from psychiatric/psychological aspects to chronic fatigue in hypermobile types. I have read and elaborated on nine of these articles, listed below. For the full 2017 EDS International Classification brought to you by the Ehlers-Danlos Society click here!
A highly suggested if not obligatory reading if you have any type of Ehlers-Danlos. In fact these should be emailed by diagnosing physician immediately after diagnoses so that patients can be equally present in their management of symptoms. As someone who was diagnosed 19 years after I first gathered the courage to ask a doctor for help, these studies have greatly helped restore my hope that those being diagnosed, treated, enduring, cared for, and altogether afflicted by the many draining, and multi-systemic, comorbidities are being taken seriously on a larger scale. Hopefully our children will not have to endure symptoms that rearrange our schedules at whim.
EDS is difficult enough to navigate, at least with the knowledge of these articles we as patients have the best tools to help us manage our symptoms until we have more effective options.
Each article is a carefully articulated synopsis of all of the research available, in each respective category. You can check my quick recap below each of the clickable links.
You can click on any of the following titles to be taken directly to their articles from the Ehlers Danlos Society. Thank you Ehlers Danlos Society for facilitating the release of these documents for us, and for creating the amazing "Your Questions Answered" brochure about the 2017 EDS International Classification, which you can also find here.
I implore anyone diagnosed with cEDS, vEDS, hEDS, and any of the rarer or associated Ehlers-Danlos Syndromes, care givers, and loved ones to make time to read through each and every one of these articles. The information is invaluable, and will help you be better prepared as a patient when it comes to providing and receiving the best care available.
Brad Tinkle, Marco Castori, Britta Berglund, Helen Cohen, Rodney Grahame, Hanadi Kazaz, and Howard Levy
One of the laregest of the articles, this is the best intro to hEDS . From clinical description to quality of life and a wide overview of the varying comorbidities, these 22 pages are full of vital information to help you guide your healthcare plan of action.
Jessica M. Bowen, Glenda J. Sobey, Nigel P. Burrows, Marina Colombi, Mark E, Lavallee, Fransiska Malfait, and Clair A. Francomano
A wonderful breakdown, and literary map, of the genetic sequencing that unfolds into the physical and invisible traits of cEDS. Even if you do not have this type, the information here is so useful in understanding the characteristics of COL5A1 and COL5A2 mutations which embody cEDS.
Alan Hakim, Chris O'Callaghan, Inge de Wandele, Lauren Stiles, Alan Pocinki, and Peter Rowe
A great overview of the cardiac involvement within the Ehlers-Danlos Syndromes. I love that this complation takes you from the clinical history to the management and treatment of POTS, OH, and OI.
John Mitakides and Brad Tinkle
Another great overview of the many different manifestations linked to the oral and mandibular regions. TMJ, CCI, TMD, tissue fragility and treatment therapies are explained to great detail.
Antonio Balbuena, Carolina Baeza-Velasco, Andrea Balbuena-Cabre, Guillem Pailhez, Hugo Critchley, Pradeep Chropra, Nuria Mallorqui-Bague, Charissa Frank, and Stephen Porges
I was elated to see that not only was this addressed independently, but that the care and attention to detail in the article were definitely in tact. I absolutely believe the connection between the Ehlers-Danlos Syndromes and depressive, and psychological conditions deserves our full attention. We cannot improve our quality of living, or the way we engage our health management without addressing this. There are three great diagrams which outline the cycles of eating disorders, the "Roles of Mental Health Professionals in the Management of JHS/hEDS," and neuroconnective model used to illustrate how important the implementation of a multidisciplinary team is in symptom management.
Alan Hakim, Inge de Wandele, Chris O'Callaghan, Alan Pocinki, and Peter Rowe
The dreaded CFS, destroyer of motivation and most things fun. Another very common concern across the Ehlers-Danlos Syndromes. A great review of the MANY intricacies of CFS, and how to engage recovery effectively.
Asma Fikree, Gisela Chelimsky, Heidi Collins, Katcha Kovacic, and Qasim Aziz
GI issues are rather universal among the Ehlers-Danlos Syndromes, and I thoroughly appreciate the points they eluded to about the importance of nutrition, and the decreased quality of living amongst those with overlapping GI symptoms. Another imperative read which has explained so much of my youth.
Pradeep Chropra, Brad Tinkle, Claude Hamonet, Isabelle Brock, Anne Gompel, Antonio Balbuena, and Clair Francomano
I was most excited to read this article. Another great collection of undeniably pertinent information when it comes to the mechanics of chronic pain and the methods most effective to manage your pain. There is a great table of the types of pain in hEDS, and a wide range of alternative therapies I hope my MDT will be open to trying. I will say, however I was disappointed that while opiods were illustrated as an ineffective long term treatment option, I felt the issue of pharmacogenetics should have been addressed as well. This may be a personal issue, however I have heard medication intolerances echoed among patients and feel this would have been a great place to address this.
William B. Ericson Jr., and Roger Wolman
For those of you with frequent, or even incessant subluxations, and full dislocations this is a great window into the disconnect you may observe when visiting your orthopedist. There are some valuable pointers on how to make the most of your visits, when pain management is at its' most critical for those greatly affected by severe joint laxity and instability.
Our time is now. If you would like me to provide a brief synopsis of the remaining articles, please leave a comment below.