Today is Rare Disease Awareness Day. So,in honor of a dear & precious friend who passed 5 days ago I wanted to share how I was finally properly diagnosed after a decade of misdiagnoses, with Ehlers Danlos Syndrome. Also, another good friend of mine passed unexpectedly in December and suffered from another rare condition I have been diagnosed with, Spontaneous Spinal CSF leak. Both of these women were young and should have had full lives ahead of them, both died suddenly and unexpectedly. Terra and Ashley were great about spreading awareness,so I am hoping to do the same in their honor. If I could encourage someone, or even help facilitate someone in their efforts to get properly diagnosed it would bring a little comfort to the ache in my heart! I've been told more than a handful of times I was a medical mystery. In medical school many Dr.'s learn the saying, "when you hear hoof beats think horses, not zebras." Most physicians are taught to focus on the likeliest possibilities when making a diagnosis, not the unusual ones. My hope is that as awareness spreads it won't be so unheard of to consider these diagnoses. So, 10 years since this whole mystery began I finally have the answers I would have given anything to have and constantly searched for! I would do anything to save someone the pain, stress, being blown off, & missed opportunities I endured. If even one person was led to answers in their own case all of this hardship and suffering would be worth it to me. Because in real life, there are not many Dr. House's just itching to crack a medical mystery! And, if they are, due to time constraints it's kind of hard to do because of crossover in symptom presentation between conditions. So many of us are misdiagnosed for years, sometimes decades and some are never properly diagnosed.
It was after the birth of my daughter that I just began to feel horrible and hardly able to function but it all started in 2003 after I was hit by someone who ran a red light. It began with exhaustion, random pains in my body and my occasional migraine turned almost daily. At the time though, I had a colicky newborn, a spirited toddler and a husband in Iraq so I expected exhaustion! I knew something was really wrong though when I found out my foot had been broken and I didn't know it, I had been chasing my toddler & working out on it, and didn't find out until it was mostly healed! I also didn't know I had been laboring with my daughter for 2 days until I almost pushed her out in my bedroom floor. Sorry if that's TMI, what I mean to say is I can handle pain, but these pains were really sidelining me. I was dropping things, I was having trouble concentrating and finding words, & it did not matter how exhausted I was I couldn't fall or stay asleep & my body would jerk throughout the night. I literally felt like I was in a fog, slowed down, like a robot in a trance. I soon found out I was in pre-menopause, adrenal fatigue, and had hypothyroidism. The random pain started in my left mid-back. I had dislocated my SI joint during my daughter's birth, but that was still frequently dislocated. I was miserable but none of the Dr.'s I saw could figure out why. I was eventually referred to a Rheumatologist who diagnosed me with Fibromyalgia, Degenerative Arthritis, Carpal Tunnel, TMJ/TMD, Scoliosis, and Peripheral Neuropathy...wait, WHAT!? Where in the world had all this come from so suddenly I was baffled! I asked about Ehlers Danlos Syndrome because I briefly remembered it from nursing school,& my wrists were weird like the pictures I'd seen in books, & because of my SI joint, and jaw dislocating daily... he scoffed at the idea & said it wasn't possible,& had the same reaction when I asked if my 10 year old breast implants could be contributing at all. After a 2nd and 3rd opinion from 2 more Rheumatologists concurring to the Fibro diagnosis I realized I probably just needed to accept it, even though my gut told me something wasn't right. Thus,the marathon of treatments began! I was 28, I didn't want to be on any prescriptions and it was still just really hard for me to accept that life was forever changed by an illness with no cure. I was already seeing a chiropractor so I started really trying everything else available in attempts to avoid medications. I had started having migraines shortly after being hit by a teen who ran a red light 6 years earlier. But those got much worse when the other symptoms began & within a year turned daily. Since the beginning of all this I was emphatic about getting to the root of the issue and correcting it as much as possible instead of putting a band aid on it. I began seeing a TMJ specialized dentist in hopes it would help the migraines as they were the most disabling. By this point I'd already been on all the medications used to prevent and treat, had all the injections and blocks through my neurologist, had already exhausted all my options for migraines & was on my 3rd neurologist as it was. I was getting minimal improvement but nothing substantial. So, I was really hoping the TMJ treatment would help I had also been diagnosed with Occipital Neuralgia, but didn't have a favorable response to the blocks and injections. It was thought that maybe the TMJ was contributing to the migraines so I had a mouthpiece made, testing to rule out sleep apnea, and imaging to rule out sinus issues, and lots of expensive therapy through this dentist. I was so excited at the prospect of getting past these migraines as he'd encouraged me would happen. Meanwhile I was being tried on everything for my Fibromyalgia symptoms. Lyrica helped me so much but it made me gain 50 pounds and gave me edema. That kind of thing happened a lot so I began really delving into the world of alternative medicine and natural therapies and treatments. My story us so long, I'd bore you to tears with all the details, let's just say none of it worked.
Next, I saw a Naturopathic physician who came highly recommended. He did all his extensive/expensive tests that revealed I had high levels of mercury in my body, multiple chemical sensitivities, food sensitivities and perhaps something called POTS, but was thought to be mild. After very heavy use of supplements that did not help and many different diets, household and lifestyle changes I was so disappointed to not have made any progress. By this point I had also tried acupuncture, massage, physical therapy, and occipital nerve blocks. The headaches were not responding so I went to a headache clinic out of state in high hopes they'd be my saving grace. I applied to be in a study on the newest treatment for migraines but was denied because of my other health issues. I began getting botox which had just became available for the treatment of migraines. It helped the first time but never again. By 2012 I had, had a hysterectomy due to the Endometriosis, Adenomyosis, & ovarian cysts. We were also hoping it would help alleviate the hormonal migraines. I just recovered from my hysterectomy and was ready to go back to work when I was hit by a distracted driver, leaving me with severe whiplash, head injury, injuries to the tendons in both my forearms, and damage to my lower back. From this point on everything spiraled out of control with my pain conditions. Up to this point I was able to get by with the use of prescription NSAID's, Tylenol, muscle relaxers,creams, heat ice, oils, physical therapy, chiropractic, acupuncture, acupressure, osteopathic manipulations, supplements... a lot I know, but I was determined to stay off opioids. I was in constant, severe, pain and was really having trouble getting out of bed due to the amount of pain I was in everywhere much less functioning to care for my kids. I am ashamed to admit I believed the stigma that all pain medication was good for was getting you hooked and ruining your life. So, after a ton of prayer and lots of research & finally listening to my Dr.'s wisdom that I needed it, I began pain management and it was a lifesaver for me. I was able to care for my children, do light exercise, cook, clean, I was even able to return to work! I'd had to quit because I couldn't function. By 2013 there was a new procedure that become FDA approved that was said to be a miracle for migraine sufferers. It was called the Omega procedure and was a 4 lead neurostimulator that had 2 leads implanted above the eyes and 2 at the back of the head. I was thrilled to be able to have this device implanted since everything else had failed to treat my head/neck pain. I had to travel out of state for each appointment or adjustment, but it was worth it. Coupled with the relief I was getting because of that and pain management, I was able to live a fairly normal life, it was such a blessing. I thought that I had really found a long term solution. That is, until the leads migrated. Not even a complete revision could correct it, the device stopped being helpful. By 2015 despite my constantly researching for the latest and greatest treatments(the best I could find was ruling mold out(weird I know), breast implant illness, and more diets & supplements. I was not very hopeful especially since I had been told it was impossible for any of my symptoms to have been caused by breast implant illness since my implants weren't ruptured. I had seen a dentist about the possibility of the mercury in my system being caused by fillings but was told my fillings did not contain mercury. By 2015 I was so sick that I was frequently having to call in to work, and if I did go to work I was having to run to the bathroom to vomit, doubled over in pain from my Irritable Bowel Syndrome, &/ or Interstitial Cystitis, and was even having fainting spells. My heart rate would stay above 100 no matter how inactive I was, it averaged 120 which caused strain & thickening to the walls. The neurologist I was seeing told me that there was nothing more that could be done for me until something new came out in medicine, the CGRP monoclonal antibodies were the next hope for me and they were still years off. It was not only interfering with my ability to do my job it was really scary. I had no idea why I was just getting worse and worse. By the summer I had to quit work for good which my Dr.'s had been advising me to do for some time. I not only had to leave the career I loved, but had to put my plans for completing my masters on hold as well. My dreams were shattered, I was devastated to be applying for social security disability & awaiting an answer instead of awaiting an acceptance letter for a Nurse Practitioner program. But, I tried to stay positive, trust in my faith and do all I could do to use the extra time to research with thr extra time on my hands. That
& I couldn't shake the feeling something else was wrong. I ruled out the mold possibility, and tried one more protocol that wasn't helpful. I was just about ready to stop trying to find these seemingly elusive answers when my friend mentioned a Dr who had helped her with her gastrointestinal issues. I saw him, and he was the first Dr to recognize the possibility of EDS.... could it be?? The first thing I myself brought up all those years before in the office of my Rheumatologist?? I couldn't believe it, had I been right all along?? The wait to get in with a Geneticist for confirmation felt like an eternity. But, by 2017 I was officially diagnosed with a moderate form of Ehlers Danlos Syndrome, type 3 or Hypermobility type. Getting this diagnosis is what really made a difference in getting to the bottom of what was causing my most disabling symptoms, my head/neck & neuro symptoms. The confirmation that my suspicion of EDS had been right all along gave me the confidence to pursue ruling out the BII. I talked to so many women who had stories much like mine, that got better after explant. I was hesitant to bring the Breast Implant Illness up because it's not genetic or rare, but since it was masquerading as Fibro and sometimes EDS is misdiagnosed as Fibro I felt it was relevant to mention. I had the implants I had, had 18 years removed in Oct 2016 and from that point on it was easier to untangle the web of symptoms. Within 3 months of explanting my anxiety and depression was drastically improved, by 6 months my Interstitial Cystitis was GONE. My hormones that had been asleep(as my Dr put it)for 7 years just woke up! My adrenals & IBS improved, and by 1 year explant my Fibromyalgia symptoms were GONE...completely just GONE!! This was a miracle in itself to me. I still get giddy talking about it.
It was in an Ehlers Danlos support group that someone shared a video with me called the Mystery Headache which I'll post below. It wasn't until the 3rd time I watched it that it clicked all my "migraines" started AFTER being hit by a teen who ran a red light in 2003.... how on earth a spinal CSF leak had been missed by the 8 different neurologists was beyond me, but I digress. So I reached out to the Dr in the video, as well as the other 2 specialists in the field to see if they thought this could be the case with me. They all did! Also, in all my research I stumbled upon something called Craniocervical Instability which described my head and neck to a "t". The reason I'd never heard of it was it's rare and something seen in EDS and few other populations of patients. Unfortunately, there are only 2 EDS specialized neurosurgeon's in the USA and they're not in the state or region I live! Neither are the 3 centers that specialize in spontaneous CSF leaks. But, I knew by this point I was on to something substantial for a change and it was well worth the sacrifice to me and my family to travel if that's what I needed. An actual cause that may be able to be corrected, I was thrilled. And it was the best feeling to know that what my gut/faith had been telling me all along was right, there WAS something more to this migraine and Fibro diagnosis for me. Both are legitimate diagnoses, that's not what I mean, I just knew in my case that there was a root cause that did not have to do with those 2 things. The wait to see the NS to see whether or not I had Craniocervical Instability was a year. So, in that time I began seeing a Dr at Stanford in California from the video mentioned above. I underwent 8 different rounds of blood and fibrin glue patching, but nothing was giving lasting results. Since a spontaneous leak is not caused by a needle, it can be very challenging to find the location if it's not visible on imaging. The bay area became our home away from home for the next year as Dr. Carroll tried his hardest to locate the exact leak location. He thought he had narrowed it down enough to refer me for surgical repair. There's only 1 neurosurgeon in the country who will even consider operating on someone who's leak isn't clearly visible on imaging. I was beyond hopeful to be able to see him because my Dr at Stanford felt we'd narrowed down the location enough to discuss surgical repair. Unfortunately, this Dr didn't feel as confident as Dr.Carroll to operate. This truthfully devastated me because Dr. C had done what he could do. Because of the underlying EDS which affects our collagen it can make sealing a CSF leak hard because our dura is weak.
Thankfully less than 2 months later I finally had my apt with the neurosurgeon about the possibility of Craniocervical Instability Dr. Henderson. Up to this point it had been so confusing trying to differentiate which pain was which, both CSF leak and instability can cause Occipital Neuralgia pain, which is how mine presents. It's a stabbing/piercing pain above and behind my left eye, and pain across the base of my skull like someone is hitting me with a baseball bat. Dr. Henderson explained why the blocks I had had done years ago didn't have lasting effect on the migraines or Occipital Neuralgia because of the laxity in the connective tissue of EDS patients being the underlying cause. He diagnosed me with Atlantoaxial Instability and recommended fusion of C0-C1. I can't put into words the hope this gave me after all the difficultly with the leak,migraines & occipital neuralgia.
I was at a bit of a crossroads when I decided to put the fusion on hold. We still hadn't located the exact spot of the CSF leak and/or closed that chapter I just didn't have a peace about moving forward with such a permanent surgery until I could rule the leak out. So, I spent about 6 more months going out to Stanford, still to no avail on the exact location of the leak, & the surgeon who would repair the leak was unwilling if the location was unclear on imaging. Over this last year my condition had just continued to deteriorate. Now, my neurosurgeon has me wear a hard collar. It helps me to not be bedridden and helps my pain and neurological symptoms such as tinnitus, dizziness, etc, so I'm very grateful because I'd missed out on so much life before. I saw my surgeon again and he has since diagnosed me with Craniocervical Instability in addition to the Atlantoaxial Instability. He wants me to try something called PRP as that's the only thing I've not done. For that I'll be traveling to Colorado, but since insurance doesn't cover this treatment it could be a while. He said this procedure saves hundreds a year from having surgery so I'm hopeful. If it works at strengthening the damaged ligaments that are causing my vertebrae from C0-C6 to not be held still (which in turn doesn't support my head or neck), I can hopefully avoid a very extensive fusion. Since I'll need such a large area fused, I'm grateful for a surgeon who is determined to give me the best quality of life possible. Once I'm healed from that if I'm still having symptoms we'll re-address the CSF leak. But, at this point my neurologist, pain management Dr, neurosurgeon and leak Dr believe the instability is the root cause of the worst of my head pain because my symptoms are so markedly improved with the hard collar, which would not be the case if the leak were primary. For me this is very good news because the instability can be surgically corrected. When you go from being told you will live with severe, constant, incurable pain & disabling neurological symptoms the rest of your life, to being told there is an actual treatment that helps many recover, it is indescribable! It has been many years of answered prayers having this hope and a possibility for a return to living life outside the walls of my home!
There is no cure for Ehlers Danlos Syndrome unfortunately since it is a genetic condition which affects our collagen. There are many different types of Ehlers Danlos Syndrome. I have the Hypermobile type which makes me more susceptible to frequent dislocations and subluxations, "Hypermobility type (hEDS) (formerly EDSIII) comes with a defined set of complications to be managed but is generally a less severe form of the syndrome. The major complications to patients with hEDS are musculoskeletal in nature. Frequent joint dislocation and degenerative joint disease are common and associated with a baseline chronic pain.. Problems with the autonomic nervous system, responsible for regulating body functions and the fight-or-flight response, are common. For example, patients often experience orthostatic intolerance, significant light-headedness on standing, due to a slowed response by their circulatory system to compensation against blood pressure and flow changes with shifts in body position. Bowel disorders are also more common with this condition, especially functional dyspepsia (indigestion), and irritable bowel syndrome."
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Because of the 2 car accidents where I sustained whiplash and head injury it made me more susceptible to spontaneous CSF leaks, degenerative joint changes, and ligament and tendon damage which caused the Craniocervical and Atlantoaxial Instability. I get asked a lot why I'm wearing my collar and it's because without it my head is like a straw trying to support a bowling ball, that's the best way I know to describe it. Because of how long my condition went misdiagnosed I've now got nerve damage from the years of nerve root compression & entrapment. Without my pain medication, muscle relaxer, and collar I am in constant, unbearable pain. But with it, my pain is tolerable and I'm not confined to bed which has been such an incredible blessing.
I share all of this to hopefully give someone else out there hope that may have lost it. There is always, always, always hope. As we all know, advances in science are always being made. Ehlers Danlos is rare, Craniocervical & Atlantoaxial Instability are rare, Spontaneous CSF leak is rare, as is Dysautonomia. But, because of all the information available to us through the internet I was able to find the answers I otherwise wouldn't have. I have often thought about how much more difficult this journey would have been 20 or 30 years ago when information wasn't so readily available. I hope my frustration doesn't come across as "Dr bashing", I do not blame any of them. These conditions are rare and difficult to spot, and with the crossover in symptoms I can understand why it took so long to get properly diagnosed. My hope is that with the spread of awareness of all these conditions I have discussed, more and more people will spread the word and especially through the medical community. Please share if you know someone who is struggling to get a diagnosis and is suffering with vague, unexplainable, or difficult to diagnose symptoms. I will link the sites that helped me finally get the right diagnosis. If there is anything I hope you take away from this, is to never give up and listen to your gut! There is always hope and you matter, and you are not alone! I have found some of the most incredible people in the support groups I'm in. Be your own advocate, you are worth fighting for! I had to learn to fight for what I knew wasn't right or what I knew needed worked up, no one can advocate for you the way you can. It was uncomfortable and intimidating, and all the traveling was/is hard and tiring, but...it is oh so worth it now that all the puzzle pieces have been put in place. I am here and willing to help in any way I'm able or to answer any questions. Please know I really appreciate you taking the time to read my lengthy story, you are a trooper for sticking it out and I am so glad you're here!
Craniocervical Instability
https://www.youtube.com/redirect?q=https%3A%2F%2Fwww.breastimplantillness.com%2Fsymptoms%2F&redir_token=bJxU4YNCDXVUkAQjXN9VJEk0Gr58MTU2MjI3MDYwMUAxNTYyMTg0MjAx&event=video_description&v=xqmeQh18hBU
https://www.youtube.com/redirect?q=https%3A%2F%2Fspinalcsfleak.org%2Fintracranial-hypotension-many-mimics%2F&redir_token=bJxU4YNCDXVUkAQjXN9VJEk0Gr58MTU2MjI3MDYwMUAxNTYyMTg0MjAx&event=video_description&v=xqmeQh18hBU
