Tag Archive | diagnosing rare disease

Harms/Benefits of Somatic Symptom Disorder

Wow. Just wow. There are NO benefits!

EDS and Chronic Pain News & Info

Diagnostic Ethics: Harms/Benefits- Somatic Symptom Disorder | Psychology Today

“…a staggering forty-five percent of autoimmune disease patients report having been denied medical care because doctors mistakenly diagnosed their symptoms as somatoform.

While the title of this piece implies there are both harms and benefits, I have not been able to find any benefits of this new DSM V diagnosis.  Many health professionals are already warning about the harm it will cause – especially to people with devastating physical symptoms of an as-yet-undiagnosed illness.

There are five possible explanations whenever someone presents to a doctor with physical symptoms that have not yet been diagnosed:

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INvisible Project – Emily Lemiska | Klippel-Feil Syndrome

Like any fourteen-year-old preparing for high school, Emily Lemiska felt self-conscious about her appearance. She wasn’t worried about her weight, hair or skin. Emily was self-conscious about her abnormally short neck. She asked her parents to make an appointment with her pediatrician to take a look. Emily, her parents and her doctor alike were shocked when an X-ray showed she had Klippel-Feil syndrome (KFS).

via INvisible Project – Emily Lemiska | INvisible Project.

Klippel-Feil is a spine disorder characterized by the fusion of two or more cervical vertebrae, which decreases range of motion and flexibility in the neck. It is known to cause pain, especially later in life, and increases the dangers of even minor trauma to the neck. With reports estimating the condition occurs in one in 40,000 live births, KFS is considered a rare disease. Emily’s case is even more atypical in that seven of her vertebras, C2-T1, are fused.

Fortunately, Emily was asymptomatic, with no pain or discomfort. Nor did she appear to have any of the additional abnormalities – ranging from heart defects to hearing loss – sometimes associated with KFS. Although she could no longer participate in some of her favorite activities like playing volleyball or riding rollercoasters, which put her at risk of whiplash or other injuries, she was able to maintain a normal life. While doctors continued to monitor her neck annually, her health thankfully stayed the same. Although she felt a little isolated because of her condition, for the most part, instead of worrying about KFS, Emily was able to worry about the usual teenage woes like boys and grades.

Determined to experience life to the fullest, Emily left her small town in Connecticut to attend Northeastern University in Boston. She excelled in her classes, formed friendships with a tight-knit group of honors students, and met her now-husband, Dan. She was extremely active in extracurricular activities, serving as editor-in-chief of the literary arts magazine, vice chair of student media and copy editor at the newspaper. Even with her busy schedule at school, she managed to work part-time and volunteer on a regular basis.

In 2008, after a semester abroad in Barcelona, Emily graduated summa cum laude with a bachelor’s degree in English. She accepted a position at Mass General Hospital in the public affairs department, where she served as editor of the hospital-wide newsletter, spearheaded communications campaigns and interacted with local media. Her job was chaotic at times, but she loved it. She took pride in her work and became a valuable asset to the team.

Emily found an outlet from her demanding job in the form of running and weightlifting. She liked the way physical activity made her feel, and the doctors who continued to monitor her encouraged an active lifestyle. She had no idea that an upcoming five-mile run would change the course of her entire life.

That springtime “fun run” around the Charles River in 2011 would be the last time she ever ran. The day after the race, Emily was startled by brutal shoulder and neck spasms that crippled her with pain. When they didn’t subside in a few days, she made an appointment to see her doctor. He was perplexed. X-rays and MRIs didn’t reveal any reason for her sudden symptoms. He assumed she strained a few muscles, prescribed Valium and a neck brace, and suggested taking it easy for a few weeks.

The next two months were torture. Emily couldn’t use her arms or lift anything without excruciating muscle pain; even typing at work irritated her shoulder muscles. With every movement, her entire spine felt as though it was being yanked. Walking and riding the bus to and from work became dreaded endeavors, and any vibration caused unimaginable discomfort. Getting through the workday became her sole focus: she quit exercising, stopped volunteering at the local library and declined invitations from friends. Dan and her two roommates had to help her with even the smallest tasks, like making dinner and cleaning.

The symptoms only intensified. In July, Emily woke up before dawn to discover her left side completely numb. Terrified, she called her parents and then took a taxi to the emergency room. Again, the doctors were at a loss.

The ER visit led to a consult with a neurosurgeon. Within minutes of reviewing her neck imaging, the physician told Emily and her dad that she had another abnormality besides fused vertebrae: a tethered spinal cord. This neurological disorder is caused when spinal cord tissue attaches to the spinal column, limiting the movement of the spinal cord. He also discovered that in the same area, Emily had diastematomyelia or a split spinal cord. In hopes of halting the progression of these conditions and lessening the pain, he proposed emergency neurosurgery to untether her spinal cord.

Dan’s commitment never wavered despite the stress on their relationship. In fact, he embraced Emily more fully than ever, proposing to her three days prior to her operation. In the days leading up to surgery, Dan began referring to her as his “brave little toaster,” a reference to the 1987 Disney movie about an animated toaster who faces many obstacles on his journey to find his owner.

The six-hour surgery, by technical standards, was a success, and the spinal cord was freed from the spinal column. After seven days in the ICU, she went home to Connecticut to finish her recovery. Determined to return to normal life, Emily went back to work only a month and a half later. She immediately realized she had returned too soon. The pain returned quickly and with vengeance.

For the next year and a half, Emily put on a brave front as she tried to keep the life she loved. Work was excruciating – she would sneak off to lie down in the conference room, come in late and leave early, and work from home as much as possible.

“I was absolutely miserable, but too stubborn to show it outright. By the time I got home at night all I had the energy to do was cry. I felt completely dehumanized by pain.”

Weekends were no longer spent enjoying all that Boston had to offer. Instead, she would lie in bed, trying to recover from the week before and prepare for the one ahead. All the while, the muscle spasms and nerve pain were unrelenting.

Her frequent doctor visits left her discouraged as well. While following the doctors’ suggestions, nothing subdued the pain. Because her muscles were irritated and her spinal cord increasingly sensitive post-surgery, treatments like physical therapy and injections would sometimes even exacerbate her issues.

In December 2012, Emily made the difficult decision to leave her position at Mass General Hospital. Much of how she defined herself was her successful career. Quitting was a huge loss, but she had no choice. With Klippel-Feil being a degenerative syndrome, Emily had to slow down. She needed to change tactics, and instead of constantly playing defense against her aggressive symptoms, she had to go on the offense. It was important for her to protect her baseline so as to not regress further.

Back in Connecticut, Emily and Dan moved in with her parents for six months before finding an apartment nearby. Emily’s dad now drives her wherever she needs to go, and her mom, a registered nurse, attends all of her major doctor’s appointments. This extra help has been much appreciated – knowing that Emily would not be able to work, Dan is attending law school in hopes that his career might make enough income for two.

To manage the pain, Emily takes more than 10 pills a day. Eager to be free from the side effects of her medications – including fatigue and mental cloudiness – Emily continues to pursue treatments that don’t come in tablet form. She and Dan also hope to someday start a family, and the drugs she takes are not conducive to pregnancy. Among the options she is considering is a spinal fusion surgery. This would entail implanting rods and screws to reinforce her spine. Although it might be her best option, there are great risks involved, and doctors are not sure whether it will help significantly. The rarity of her case means it is impossible to know whether it’s the right decision – there is nothing to compare to, no KFS studies to point to a positive outcome.

If she does choose to have surgery, Emily knows that it may not be a full solution. She hopes that the right combination of Western medicine and complementary therapies might bring relief. An epidural nerve block, for example, decreased nerve pain in her face for a short time. Acupuncture and massage also help with the pain, as does wearing a neck brace and heat and ice therapy. To keep the rest of her body active, Emily stretches every day, goes for short walks several times a week and recently began swimming. All of these activities require modifications; for example, she swims using a snorkel mask to avoid having to move her neck to breathe. But Emily says that doing an adapted version is far better than doing nothing at all. The goal of being a mom and publishing her personal writing one day drives her to stay positive and proactive during her search for better answers.

Emily’s life has completely changed due to the progression of her disease. She has had to redefine herself entirely. Not being able to work, having put such emphasis on her job, has been a major loss. She misses her hobbies, like running, playing the piano, cooking and volunteering. It especially bothers her that she can no longer help others, but instead, is the one who constantly needs help.

“It is hard to be 28 and unable to enjoy life as much as I want to,” she says. “My to-do list and my body don’t see eye-to-eye. Each day I have to find a balance between pushing myself enough to feel accomplished, but not so much that I’m hurting myself.”

Emily still does the things she loves, but in small doses with lots of rest in between. And even though her activity is limited, she says she never feels bored. To keep busy, she reads, listens to podcasts and TED talks, takes online courses, meditates and writes. She continues to do occasional writing projects as a freelancer, but only as the pain allows. She also enjoys taking trips with Dan and having friends over to visit. Emily jokes that even with all she does, it’s difficult not to feel like a professional sick person. Much of her daily routine consists of taking care of herself, scheduling appointments and dealing with insurance and disability paperwork.

While initially denied disability earlier this year, thanks to help from a state health care advocate, she was approved in September after a long appeal process. The stress of being disbelieved and misjudged was difficult to take. Knowing there is a negative public view of those needing to use disability benefits, she wishes others understood that the majority applying for help really need it. Like her, they want to work but are truly unable to due to severe health limitations. Without assistance, she is incapable of supporting herself. In fact, she and Dan had to rely on food stamps for a few months just to get by.

Emily is not ashamed talking about her personal trials, even financial ones. In fact, she is very open about the truth many in the pain community experience every day, even when it is hard for others to hear. She feels if more people were open about their hardships, there would be fewer stigmas and less misunderstanding about chronic pain. She believes sharing struggles does not make a person weak or vulnerable, but shows strength.

For this reason, Emily keeps a blog. Not only is it personally cathartic for her, but it is also a way for family and friends to stay in the loop. Occasionally, posts are so widely shared that they serve to help increase awareness about chronic pain among individuals outside her inner circle.

Emily believes all who live with pain should keep some sort of blog. It is a way to express emotions that might otherwise be difficult to release, while allowing those who know you a chance to understand more about your challenges.

Through her experiences, Emily realizes that giving up is not an option. If she could stress one thing to her pain peers it would be to become an expert on their particular diseases. “You have to advocate and fight for your care. Answers may be difficult to find, but never stop searching or hoping. It may take time, but the medical community makes advances every day. You don’t want to be the one to give up the day before they find the treatment the helps you.”

Emily keeps abreast of developments in spine care through Google Alerts and by reading research abstracts from medical journals. She stays on top of her own care by requesting and reading her medical records, bringing a list of questions and taking notes during appointments, and getting multiple second opinions when necessary.

Emily also stays connected and informed through the resources she receives from the Klippel-Feil Syndrome Freedom. This small, grassroots nonprofit is trying to help people afflicted with the disease obtain support, strength and information. Created by other Klippel-Feil patients, the organization is personally dedicated to the cause.

Through this group, Emily finally met another individual with this disease, fourteen years after her diagnosis. Being able to connect with someone like her was life changing. For the first time, Emily did not feel so isolated and alone in the world. She had met someone who fully understood – and she was delighted to see that this fellow patient had two children of her own.

In her small way, she is doing her part to advance care for KFS patients. She is working on a KFS survey to collect data on patterns of abnormalities, symptoms and treatments tried. She hopes the results will help inform the medical community while empowering those living with the devastating disease. She is also planning a holiday fundraiser for 2015 – featuring a skeleton key holiday ornament – with proceeds benefiting KFS Freedom.

Cheerful and determined, Emily chooses to live in gratitude. While Klippel-Feil is progressive, she knows she is blessed with an amazing support system. Her parents, friends and husband go above and beyond to show her she is loved and that she is never alone. Her doctors aren’t sure how much worse her condition might become as time passes. But Emily is not giving up on life; rather, she is embracing it.

“People often seem surprised at how positive I am,” says Emily. “We all have a tendency to underestimate ourselves. No matter what life throws at you, you can and will find a way to live the best life possible.”

Resources:
Klippel-Feil Syndrome Freedom –

Klippel-Feil Syndrome Alliance – http://kfsalliance.org
Klippel-Feil Syndrome Alliance Facebook page –

https://www.facebook.com/KlippelFeilSyndromeAlliance

via INvisible Project – Emily Lemiska | INvisible Project.

An Old Rant and a New Perspective

I found this article which I had written about on Facebook before I had a blog. The first time I read about this girl’s story I felt so alone, so overwhelmed and out of control and consumed by pain that I cried the entire time I was reading it. I didn’t yet realize how many of us were going through the same thing, or how many friends who truly get what chronic pain means that I would meet along the way. I just knew the desperation, anger, and denial that I was piled under. Fortunately, times have changed, or at least my perspective has. I can still really sympathize with this girl, and understand where she is coming from, and I am still incredibly grateful to her for writing her story at a time when I felt hopelessly isolated. This may have been the first time that I realized if more people were less afraid to speak out about chronic pain, we might be treated like human beings, eventually.

 

My Story: Looking for a New Doctor

National Pain Report

May 26th, 2014 by Kitty Taylor

I’ve had chronic pain as far back as I can remember. It got unbearable a few years ago after a serious injury. My body won’t forget the pain and it feels fresh as day one without medication.

I recently moved to Colorado from Nevada after being with the same doctor for many years. Now I’m having a hard time finding a new doctor willing to prescribe the medication I’ve been taking. I’ve found plenty of clinics that say they specialize in pain management, when in reality they are rehab clinics. Their sole purpose is to wean you off narcotics and put you on highly addicting medication, such as Suboxone or methadone. Some clinics are treating pain with Suboxone long term. That was not the intended use.

Then there are pain clinics, usually the spine centers, that only do injections and don’t prescribe drugs. I wish they would distinguish in their business category what they’re really about.

The first clinic I thought would be helpful turned out to be a Suboxone clinic. On my second appointment there they told me outright that I wouldn’t be continuing on the same medication and that I would be going on Suboxone. If I didn’t agree that, I was told they’d cut my doses so low I couldn’t handle it anymore. So I canceled my next appointment with them.

Drugs like methadone and Suboxone (which may or may not help the pain) are just as dangerous and the addictions to them are intense. The withdrawals are unreal. Coming off the medication I’m on now would be painful, but having to come off one of those could cause months, not just days, of withdrawal and pain.

Not only that, but imagine if you couldn’t get your next dose of methadone or Suboxone, you could end up in a coma! Any doctor that says there aren’t side effects and the withdrawals aren’t bad is lying.

It’s been four months since my last appointment with my helpful doctor and I’m still looking for a new one. One clinic I had a referral to, the doctor refused to accept me as a patient. It’s taking so long to find a doctor and I’ve got to find one quick! There are so few listed and so few that prescribe narcotics or are honest about what they practice. If you are rehab clinic you should not be advertising that you manage pain.

I’ve certainly been made to feel like a drug seeker and nothing more since I’ve moved. My last doctor never made me feel that way. He was caring and compassionate from day one. The only complaint I have about the visits there was that the DEA had them scared to prescribe medications that I had been on for a long time. My medicine and schedules were altered based on word from the DEA, not what my doctor felt was right for me and not what was working for me.

My daily function is greatly decreased since my medications were screwed with and it’s getting worse. First they took away Soma and it was painful trying to find another muscle relaxer. Even the one I’m on now sucks, but it’s better than nothing. Some of them I think were causing more muscle spasms and cramps. It was so bad I looked like I was having a seizure.

Then they couldn’t prescribe more than four oxycodone pills a day when I was on six. They couldn’t even prescribe Demerol anymore because the DEA and the county were having so many problems with it. The hospitals stopped keeping it and the pharmacies stopped ordering it because of theft and robberies!

Kitty Taylor

Kitty Taylor

via My Story: Looking for a New Doctor – National Pain Report.

One of the first things to go was how many different narcotics I was prescribed at once. My doctor had me on two long acting (1 pill, 1 patch), two short acting (1 scheduled and 1 breakthrough). So for short acting, I would have 4 Dilaudid a day scheduled and then up to 6 Norco per day as needed.

The Norco was taken away and so was the patch. I was down to oral long acting 4 times a day instead of 2, and 6 short acting a day instead of 4. It worked out about the same, except those extra Norco would be a godsend about now, especially since I’m running out of as needed meds because I’ve been without an appointment for so long.

This shouldn’t be happening. I’m looking for cash only clinics now even though I have insurance because I don’t want my business in all the computers everywhere. I’d also be fine seeing a pill pushing doctor that over prescribes. I’d be able to stock up in case something like this happens again and I trust myself not to increase my medication.

I never take more than I need and I’ve never run out before my next appointment. Because of being hospitalized I’ve been able to stock up on some of my own stash while the hospital administered to me with their own pharmacy.

There’s no point in making myself more tolerant and never getting what I need. That’s why I switch my meds to equivalent doses of different kinds every few months. That way I don’t need to increase. My body becomes tolerant to one and I switch to another until I become tolerant again and I switch back. This regimen worked well for me and my doctor agreed it was better than taking more and more.

I don’t want to be labeled or discriminated against for having invisible disabilities.

I get enough smacks in the face just using my disabled parking privileges!

12_7.jpg“Kitty Taylor” is a pseudonym. The author, who suffers from Ehlers–Danlos Syndrome (EDS), Cushing’s Disease and Post-Traumatic Stress Disorder (PTSD), asked that her real name not be used.

National Pain Report invites other readers to share their stories with us.

Send them to editor@nationalpainreport.com

via My Story: Looking for a New Doctor – National Pain Report.

 

And this was my response, a year ago:

“This is so much like my story. The way she talks about having to deal with “pain clinics” who only push methadone, or who only push Lyrica and Savella, or who only do injections. None of them have the ability to actually treat acute flare ups. I know from personal experience that even when a procedure at a pain clinic goes wrong and they have caused you intense and unrelenting pain, they do not offer any help, just tell you to calm down, because you’re scaring other patients, and “if it’s really that bad” to go to the emergency room. Pain clinics are a gimmick. A glimmer of hope that turns out to be bullshit when you get up close, every time.

I can’t do cortisone injections, I can’t take most antidepressants, nor steroids, nor do I care to, I am taking Lyrica and two different muscle relaxers at the same time for spasms and I also take all the usual Vitamin D, B-12, magnesium, zinc, rosehips, tart cherry extract, etc, that seem to help maybe? Who knows. The only time I have ever gotten any relief from this pain is after six hours waiting in agony at an Emergency Room, watching junkies and fakers get treated with more dignity than you, because you refused the little cup full of oxycodone and valium (I had already taken my personal comfortable limit of oxy while waiting in the ER, and I told them so, and I don’t do well with valium, it causes panic attacks and it’s written so in my charts if they had payed attention). One time I was told rudely to leave the ER, and then billed $600+ for the pleasure of being treated like human garbage by a very bitchy ER doctor after waiting many hours to be seen. Twice I received actual pain relief that lasted maybe five hours and was the only relief from the hell of fibro that I have had in two years. I haven’t been to the ER in over a year, but I think about how the ER is always full of people who feel better than me. The ER is a very, very, VERY last resort at this point, however.

I’m not even functioning anymore, I’ve been in way too much pain for way too long. I’m just trying to get to a place where I have enough moments in a day to take care of myself properly. I’m not even close to that level on my current treatments. Most days I can’t brush my hair or take a shower. Most days I spend two hours doing a task that should take fifteen minutes. Most days I am overwhelmed and unable to advocate for myself.

The point she makes that I think cannot be overstated is that chronic pain patients don’t abuse medications. Then we wouldn’t have them when we need them. The pain is real and we would never want to not have the ability to treat it.

We are just as scared of finally finding the right drug (can it please be a non-opiate, non-psychoactive drug?) that makes the pain bearable only to have it taken away again, as we are terrified of the pain we are in continuing unchecked. And we are scared of addiction, too. And scared for our organs. And scared for the changes in us caused by taking pain medication. We’ve weighed all that. The pain warrants the medication, or we wouldn’t take it.

The pain is already changing us, rewiring our brains, making us shells of the people we were before, and turning our bodies against us. If there were something better, we would certainly take that instead.

I understand her panic and her logic and I really feel for her.”


 

Phew, so that’s me a year ago. I don’t regret writing any of that, because at that time it was all true from where I was standing. It’s important to note that I was extremely depressed, and had been disappointed and disillusioned so many times. I had a primary care doctor who believed I was faking, no way of seeking relief except the ER, and I very much didn’t understand what was happening to me. At the time, open therapy was doing very little for me. I spent more time staring at my psychologist in total confusion than I did processing or talking things through. She would ask me questions like “what kinds of self-care routines are you doing on a regular basis?” and I would look at her like she had grown a second head, and she would push, “you must be able to think of one self-care activity, I don’t care how small it is.” I was still confused. Self-care? As in, my needs had to take precedent over others before I was at the point of throwing massive temper tantrums, crying uncontrollably in public and at work, and having ten panic attacks in one day? How was I supposed to even start? What did it all mean? Was this lady crazy? I was supposed to get better, not spend more time wallowing in “my needs”.

That’s my thinking a year ago. The level of brain fog I was enveloped in at that time is pretty evident, and there isn’t a lot of built in logic to my ranting, but I wasn’t even aware yet that my cognitive abilities had been taking a nosedive over the past two years. I knew I had Fibromyalgia, but I didn’t know much about it or much about what my life would look like in a year. To be honest, when I typed my response to that writer on National Pain Report, I didn’t even know if I’d be here in a year. Two girls with Ehler-Danlos Syndrome responded to my posted response on Facebook; one is a dear friend now but was someone I had just met at the time, and another I was too self-involved to reach out to in return. Currently, I am haunted that I didn’t reach back, more than I am bothered by anything that I did write. Reading through this outpouring of my own overly raw emotions made me wince, but seeing how I ignored another spoonie’s attempt to connect gave me actual regret. Both girls have EDS and encouraged me to push forward to a diagnosis.

I still don’t have the diagnosis, but I am treating my joints with much more care and attention and I am seeking physical strength instead of allowing fear of injury to mandate every activity.  I also do finally understand what self-care is and have a long, long list of ways to recognize and put disordered thinking in perspective, but I am still learning more every single day. I would no longer characterize my life as hellish. Some days are indeed horrible, but I have good days too, and I am more prone to seize them now than a year ago.

I feel gratitude and empowerment when I take care of myself these days, not selfish guilt, but it took reframing my thoughts, repeatedly. Of course I still forget to make myself a top priority sometimes. There are always improvements to be made, but I am confident (another new development) that I will continue to make necessary changes and seek out information that helps me cope. In the mean time I am trying to find joy in small wonders. Any little victory is cause for celebration. Today, I’m happy that I have made progress since my diagnosis. Visible, written down, real progress. All the hard work has been overwhelming at times, it has even felt like I have slid backwards more than I have been able to put one foot in front of the other and keep climbing, but in one short year, the small changes I have made have taken me a long way from not knowing if I wanted to be here in a year, to planning for the next five, ten, twenty years of my life. I am even starting a business with a close friend, something I thought was ripped out of my grasp by illness which has actually become much more possible because of the life adjustments I have made to accommodate the chronic pain that dogs my every move.

It just proves that accepting and processing what illness means for me personally, minus the guilty nagging voice in the back of my head, has made all the difference. I think others around me may be frustrated by how little I can seem to accomplish in a certain amount of time, but I now realize that this isn’t their journey. It’s my journey, at my pace, and that’s healthier than continuing to constantly feel like a failure for struggling to keep up with everyone around me. I don’t have a magic finish line that I can get to and be “recovered”. The best I can do is the best I can do, end of story. I will work with what I’ve been given, and I will be grateful for what I can do on any given day. Sometimes that means just breathing in and out for hours, nothing else, and sometimes it means charging at life like I don’t know what pain and illness even are.

 

In Honor of Rare Disease Day 2015: The Difficult Diagnosis

I would like to take a moment to recognize that February 28th is Rare Disease Day.

The name implies that not that many people are affected, but that’s a totally false assumption. There are way more of us than you would ever guess! Many of these diseases are so rare that physicians do not know how to test for them, would not recognize the symptoms, or take adequate steps to obtain diagnosis. There is only room for a certain amount of information in each person’s head, and I’m not implying doctors aren’t doing their job, just that there are probably many more who live with rare diseases than are currently counted on the tally, which is already estimated at well over 300 million worldwide. I live with rare disease, I know many who do as well, and let me tell you, a rare disease is a special kind of hell burden. Doctors think you’re crazy for even bringing up genetic testing, they think you’re a hypochondriac if you tell them what your symptoms and odd blood tests match from all your painstaking research, which if you have a rare disease, you absolutely have to do, and they scoff at the mention of names they’ve only briefly skimmed in texts and never seen in real life.

WRDD template 9 no photo 2014

My rare diseases are ones that are actually fairly well-known, though doctors usually don’t know much beyond a one sentence summary (if I’m lucky), so finding proper treatment or even a specialist with a depth of knowledge on them is difficult. My path to finding a diagnosis is not over yet, and what I have managed to find out has been like pulling teeth. I know I’m one of the lucky ones just learning as much as I have so far.

When I first gathered the courage and research needed to talk to a doctor about Ehler-Danlos Syndrome, her immediate reaction was to call me fat. Yes, really. She looked at me, puzzled, and said, “Isn’t that a disease for tall and thin people?” and I had to bite my tongue, hard. I also had to accept that she was not going to help me with this. Not now, and not ever. She simply thought I was nuts, even though I match 100% of both diagnostic criteria. It was humiliating, I felt lower than dirt and like maybe she was right, maybe it was all in my head, I was making this up for attention or so I didn’t have to work anymore. She had me so confused at a difficult time in my life when I didn’t realize that pain affects cognitive abilities, and she definitely abused her position of power as a doctor, numerous times. I started to internalize all her comments about my psychiatric health, personality flaws, and physical unattractiveness. I lost trust in myself completely because I thought I was either dying or a liar, and I couldn’t figure out which one.

Unfortunately for my entire story, really, I was in the middle of a lawsuit with a company whose semi-truck hit me, so I didn’t want to switch doctors, even though she was pretty incompetent and wouldn’t sign off on X-Rays for months after my car accident, not to mention that she made me cry and hate myself and panic for days after every appointment. This doctor often repeated with obvious frustration that there weren’t a lot of options, she didn’t know what else to do for me, and that my panic disorder was obviously the root cause of all my problems, not my car accident. Sigh… there’s much more to my dealings with her, I have a long list of quotes that would make you cringe! But telling me it was all in my head was her favorite. She did it in writing, even.

Nevermind that I had actually been diagnosed with two relatively serious spinal injuries once we started taking X-Rays and MRI’s, and they were dire enough to warrant my two neurosurgeons getting excited and thinking they were going to get to cut into me. Both of them were told politely that for me, back surgery is not for curing pain, it needs to be done for a more compelling reason, or in the case where surgery will stop further degeneration. Neither one of those things is true for me, and neither doctor really believed that they could improve my pain in the long run. They both just wanted to “cut and see”. No. I have enough problems without botched spine surgery! In addition to the torn disc in my lumbar and the one in my cervical spine, there are also a set of birth defects including the Spina Bifida, plus 11 Schmorl’s Nodes (central disc tears that protrude into the vertebrae below), nerve root cysts, a random scarred area of my spine about a centimeter across, height loss and disc desiccation, bulging discs, disc degeneration/arthritis, and best of all, completely unexplained extra cerebrospinal fluid trapped in odd places in my spinal column, even two years after the car accident. I was told that none of that stuff was a big deal, but I beg to differ! At 22 I had more problems with my spine that most people in their 70’s or 80’s. That is not “normal”. As far as figuring out what out of all those issues is causing me pain? I don’t think it even matters at this point, studies have failed time and time again to relate MRI changes of the spine to specific problems. We all seem to experience them differently. Supposedly other people whose spines look like mine can actually function as if nothing is going wrong in there. Good for them. I guess I’m just rare on all accounts!

Ehler-Danlos Syndrome, Spina Bifida, Fibromyalgia, CFS/ME and Occipital Neuralgia

I sought out the local teaching hospital in desperation, starting at the pain clinic where I was, somehow unbeknownst to me, diagnosed with fibromyalgia, hyperalgesia, allodynia, and neuropathy. Since no one bothered to mention that I had been diagnosed with those things, I was still frantically looking for answers in a myriad of other directions, while waiting two months for my referral to rheumatology, where I finally figured out what was happening to me, or at least found out that I had been right all along to keep pushing, and to not let any MD stigmatize me into silence.

My primary care at that time still didn’t believe that I was in real pain, even after emailing back and forth with my fibro specialist, and I’m pretty sure she thought fibromyalgia was a fake diagnosis. She told me she was sure I didn’t have it even after two specialists diagnosed me months apart, at the most reputable hospital in the state. “Other people have it so much worse, just get over it” (not necessarily as true as she thought it was… I was just very stubborn about hiding how bad it had gotten because it made me seem even crazier). “You’re a smart girl, I don’t understand why you can’t figure this out” (thanks?). “If you would just eat right, this wouldn’t be such a big issue” (Wanna come over to my house and cook healthy every night and watch me throw it up later because many “healthy” foods hate my body? Didn’t think so… I’m doing my best. Food doesn’t cure chronic illnesses, though it does help). “I can’t do anything for your pain, but you should really start taking longer walks” (this was a favorite of hers… infuriating when you are trying to decide if walking to the toilet is even an option right now). “You won’t get better by taking time off work, you just need to try to get through it.” and best of all: “Oh, is that your sympathy cane?” Phew. Right. Because if you can’t see it, you must make the person feel terrible for having it. I struggled through years of increasingly aggravating (more like tortuous) physical therapy and massage, while my other symptoms began to make themselves known and I pushed them away, in denial.

It was all related to panic attacks, I told myself. Calm the fuck down, Jessi, then it will stop.

Except, it didn’t stop, even on a massive dose of 3mg per day of clonazepam, which works out to about 9mg circulating in your system at any given time, more if you’re a slow metabolizer.

I was stuck with that mean, bitchy primary care doctor, throughout the three years of wasting what little energy and brainpower I had on a lawsuit that failed because I was too exhausted, sick and in severe, never-endingpain to focus on seeing it through.

In the end I went into the office of the attorneys who represented the company that hit me, just me and my boyfriend, and I talked them up a couple thousand from the measly couple thousand they offered. I made the attorney I was arguing with leave the room to talk to his boss at least eight times, and after three years of work and hope and being told my case was worth hundreds of thousands because my life had been utterly destroyed by this accident, I was dropped by my lawyer within a month of my court date and told for the first time that the accident didn’t ‘look big enough’ to have ruined my life, and a jury would think I was malingering. I gave up, something in me snapped after three years of putting so much hope into being fairly compensated for what had happened to me on my way to work and all the torture I had endured since, all the tests and all the ER trips and the days spent in woozy pain land.

We closed the case in the enemy’s plush, modern law practice, at the beautiful inlaid table, in the room with soaring glass walls overlooking a rooftop garden and downtown Portland. When the attorney picked up my signature off the table and began to turn his back and walk away, I felt my soul deflating. I had been keeping strict wraps on my panic attacks for months up until that moment, but my body took over right then. It started as a swelling in my chest and a ripping sensation in my throat, and then a noise that sounded more like a dying animal than an upset human tore it’s way loudly out of my lungs. I am not sure how long I sat there and screamed at the top of my lungs, my boyfriend trying to close the curtains while people came up to the glass room like I was a monkey in a zoo, staring in at the girl freaking out for no apparent reason.

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What my doctors are starting to understand now, years later, is that I was so affected by the car accident because I was a perfect storm of bad genes, PTSD related scars in my spine and on my brain, and birth defects; a ticking time bomb that exploded when I was hit, and set in motion a cascade of chronic illnesses.

Ehler-Danlos Syndrome is congenital, and it often comes along with a host of other rare conditions, such as Chiari Malformation, POTS, OI or other autonomic nervous system failures falling under the category of dysautonomia. Having a tethered spine, cognitive impairments, Occipital Neuralgia/Migraines, Trigeminal Neuralgia, TMJD, Spina Bifida, Chronic Fatigue, and Fibromyalgia are all associated as well, among many other issues. There are two scales to help you figure out at home if you may need to bring Ehler-Danlos up with your own doctor; one is called the Brighton Scale, and one is called the Beighton Score. Either one is accepted as the standard for diagnosing the disorder in the absence of genetic testing, but it’s easy to measure both scores at the same time.

BEIGHTON SCORING SYSTEM for Ehler-Danlos Syndrome:

Beighton Score Chart: Evaluating for Ehler-Danlos Syndrome

It is extremely important to know if you have EDS, especially if female, one of the reasons being it can be an issue with pregnancy. In addition, it affects your connective tissues, which are not just in your joints, they are in your organs and throughout your body as well. It’s also important to know that if you suspect you have it, the treatment is not much different for EDS type III Hypermobility (the most common) as it is for severe Joint Hypermobility Syndrome, so even if you can’t get a formal diagnosis of EDS, insist on them writing the severity of your JHS in your medical charts for a more discerning doctor to pick up on later, hopefully, and then do physical therapy for hypermobility, but carefully and only under the guidance of someone who knows how to improve muscle tone around the joints without stressing them too much or risking them subluxing or slipping out!

There are 6 main subsets of Ehler Danlos, but even more variances than that exist within the condition when you get really technical. Some are much, much worse than what I suspect is going on with me. I have a friend I greatly respect and admire, who actually managed to acquire not one, but two forms of the rare disease in utero.

Here are the various types of Ehler-Danlos Syndrome:

The main six types:
Classic Type I, Classic Type II
Hypermobility Type III
Vascular Type IV
Kyphoscoliotic Type VI
Arthrochalasia Type VII A-B
Dermatosparaxis Type VII C

The actual meanings and specifics of all these diagnoses is variable and too lengthy to go into detail on here, but for more info, feel free to head over to EDNF.org (Ehlers Danlos National Foundation) which has a lot of good info for patients and physicians alike. I am still trying to hunt down a doctor who will agree to genetic testing, but in the meanwhile I am doing my best to learn to avoid subluxated joints and painful dislocations as much as possible.

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“More than 350 million people worldwide suffer from a rare disease. If a disease affects fewer than 200,000 people in the United States, it is considered rare. There are currently about 7,000 rare diseases identified worldwide, and approximately 80 percent are caused by genetic changes. These diseases are often chronic, progressive, complex, life-threatening, and affect the quality of life.”

via Global Genes: Is Genetic Testing My Path to Diagnosis?

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I was born premature. For many reasons that were unavoidable at the time, my mom was on medications that are now considered seriously unsafe to a fetus and one in particular which has been straight-up recalled by the FDA, called Terbutaline, to keep me inside, and to keep her alive while medical emergencies kept cropping up. It was not a fun pregnancy for my mom and it was her first, and I think in the disaster of incompetent doctors I just got lost in the shuffle. I was pronounced a healthy baby with a minor heart murmur and bi-lateral hip dysplasia, and no one even noticed the Spina Bifida and hypoplastic vertebrae. I can’t blame them, when you’re contemplating heart surgery on a preemie infant, I suppose there are enough things to worry about without actively looking for more issues. Now it is tested for regularly, and monitored for in families with a history, though it is not entirely clear if genes, environment, or more likely a combination of the two, are to be blamed for it’s appearance in a fetus. However, we do know that it happens within the first four weeks, and the risks of having a baby with Spina Bifida if you have it yourself are much higher than for someone without it, but are also greatly reduced by taking 4mg of folic acid a day. Doctors vary on how long a woman should be taking the folic acid for optimum results, but all say a very minimum of a month, some say a year, of taking a regular dose of folic acid and other prenatal vitamins before attempting to become pregnant.

My father has Spina Bifida Occulta as well, and the same cracking joints that get stuck, but he is the opposite of flexible. I, however, was a gymnast nicknamed “Rubber Band Girl” by my teammates because I was so damn bendy. My younger brother has Spina Bifida too, and is also still insanely limber and never ‘grew out of it’ like he was told, and has joint pain as well. I was much more active than him as a kid, involved in gymnastics, swimming, ballet, tee-ball/softball and just about anything else I could attempt my hand at.

My pain has skyrocketed uncontrollably throughout young adulthood, especially since my car accident, but before that I had pain that I thought was either normal or “no big deal” (although you could see by my declining test scores throughout middle and high school that it was a big deal) and tried to play it off in a variety of ways. I especially remember that getting picked up as a kid was something I dreaded with the wrong person, because too much digging in my armpits or hips or back was insanely painful. As a child and throughout being a teen, my hip used to pop out while I was lying in bed, and I would be frozen, silently screaming like the wind was completely knocked out of me until I could force it back in. But that was “normal”?

The Spina Bifida pain presented itself mostly as tailbone pain and low back pain throughout my childhood and teenage years. I could do more sit-ups than anyone else in a minute, in my entire grade, boy or girl, but I had to be on the cushiest stack of floor mats or I couldn’t even do one. Laying on a hard surface would make me sweat with pain. Again… why that was normal, I don’t know. Anything that requires lengths of sitting or lying on something hard left me wondering if I was going insane, or if I should tell someone how much it hurt. It took until last year to get a formal diagnosis of Spina Bifida added to my chart, but I am so glad I know now and that I know to seek medical advice before becoming pregnant, if that is an option for me at all in the future.

From my rambling about it, I’m sure you gathered that Spina Bifida is one of these rare diseases as well. It is widely screened for now, thankfully, and there is even a surgery that can be done in utero to close a hole in the spine of the fetus if the problem is very severe. People with Spina Bifida who are looking to conceive can obtain genetic counseling to see what their chances are of birthing a non-affected child.

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I had planned to write more, and maybe I will come back and do some more work on this post soon, as I just learned that this entire coming month is dedicated to raising awareness for rare diseases.

Related Media for Further Research:

http://www.rarediseaseday.org/ – An organization dedicated to bringing to light rare diseases and their causal factors. Networking for patients.

http://globalgenes.org/rarelist/ – A comprehensive list of almost all known rare diseases, with links to organizations where possible. This website also has toolkits for various life situations that face patients and caretakers, as well as packets for starting a fundraiser for rare disease. They have quality images for spreading awareness through social media as well. Most of the ones I used in this post come from their press release packet.

https://www.rareconnect.org/en – Hosted by trusted patient advocates, this is a place where rare disease patients can connect with others globally.

EDNF.org (Ehlers Danlos National Foundation) has a lot of good info, for patients and physicians alike. It also includes a section on how to find a diagnosis, and many of my friends have stated that emailing the organization can help push you through to an interested specialist as quickly as possible.

http://chronicillnessproblems.tumblr.com/EhlersDanlosInfo – An awesome collection of information assembled by a fellow blogger. Incredibly thorough and way more in depth than my little synopsis! She also has a wealth of links and research included, which is nice for those of us who like to learn as much as possible.

http://www.spinabifidaassociation.org/ – For 15 years the Spina Bifida Association has been seeking answers, spreading knowledge, and connecting patients. This website has a great selection of information for patients, practitioners, and caregivers.

Rare Disease affects Millions

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