Learning to Dazzle

I apologize that things have been so quiet over here on the blog. My first three posts seemed to come pouring out of me, but I don’t want everything on here to be about pain and illness, so I wasn’t sure what to venture into next. Then, last Wednesday, I got a diagnosis that explains all of my pain and every weird symptom that I’ve been suffering with for the past 16 years.

I cried when I left the appointment. I’ve left a lot of medical appointments and cried, but this time it was for a different reason. I wasn’t crying from frustration and anger that the doctors weren’t listening to me or couldn’t seem to help, I was crying tears that said, “I knew something like this was wrong with my body. I knew it. And no one would listen.”

Well someone finally took the time to really look into my medical history, examine me thoroughly, listen to all of my symptoms, test me, and give me a diagnosis that explains everything. It’s taken me some time to process the diagnosis and I wanted to read up more on it before writing this post. But I feel like its a really important thing to share with everyone.

So finally, after 16 years of painful symptoms, so many doctors, tests, treatments, and misdiagnoses, I was diagnosed with Ehlers-Danlos Syndrome by a top geneticist at the University of Maryland.

Also known as EDS, it is a rare genetic disorder caused by faulty connective tissue. Apparently, connective tissue is present in almost every organ in the human body, forming a large part of skin, tendons, joints, muscles, ligaments, and blood vessels. This explains why EDS can cause a huge variety of symptoms; having faulty connective tissue can literally affect everything.

There are 13 different types of EDS and although my doctor thinks that I have the most common type, known as Hypermobile EDS, I will be getting further genetic testing, as I have some features of another type, called Classical EDS. This disorder is complicated, and I still have a lot to learn about it. The most common symptoms include joint hypermobility, fragile blood vessels, and fragile, velvety skin.

I’ve always been really flexible, but I didn’t know that it wasn’t normal for my arms to bed backward at my elbows or to be able to bend my thumbs down to touch my forearms. My skin has always been very soft and I bruise really easily. I’ve always had “bad veins” and my IV nurse has the worst time sticking me; they roll and collapse and burst and just don’t cooperate. But I didn’t know that any of this wasn’t normal.

What I did know wasn’t normal was having a bad headache all the time, feeling so dizzy a lot of days that I couldn’t drive, and the crushing fatigue that I experience all the time. This can all be attributed to EDS. It causes chronic pain, fatigue, digestive issues, and autonomic dysfunction (EDS causes POTS), among other things. The problem is that the majority of doctors are not knowledgeable about EDS. It’s a complicated disorder and the fact that it can cause symptoms in just about every major system in the body makes it hard to diagnose.

I’ve read different things, but most of the medical articles I’ve seen estimate the average time from first onset of symptoms to diagnosis to be 14-19 years, typically longer for females. And many people get misdiagnosed along the way.

My first diagnosis when I was 16 was chronic daily headaches. Then, when I began having widespread joint and muscle pain, I was diagnosed with fibromyalgia. In my desperation to find a cause for my pain, I started seeing a doctor that specialized in Lyme Disease. All of my symptoms seemed to fit. Although multiple tests came back negative for Lyme, and I don’t remember ever having a bulls-eye rash, the doctor said that the current CDC-approved tests were not accurate and many people don’t get a rash. He took blood and sent it out to controversial labs in California which came back saying that I did, in fact, have Lyme and other tick-borne co-infections.

I thought we had found the answer. I was treated with months of heavy antibiotics but didn’t get better. So I had a PICC line placed and was put on more heavy IV antibiotics. I got a blood clot around the PICC line so they put me on blood thinners and placed a catheter in my chest. Eventually, the IV antibiotics caused gallstones and I had to get my gallbladder removed. My symptoms didn’t get much better.

In fact, after every daily antibiotic infusion, I started to feel more ill than I’d ever felt. My entire body ached and shook. The only thing that helped was getting in a steaming hot bath. I decided that I couldn’t take it anymore and made the choice to stop the antibiotics.

My Lyme doctor was puzzled and suggested that I might not be getting better because of mold. My parents’ house was tested and it turned out that there was black mold in one of their walls from a window leaking for years. We thought this was what was keeping me from getting well. They had the house treated, I moved to a beautiful apartment, saw a “mold specialist” who put me on a ton of supplements, but I still didn’t get better.

I eventually just learned to live with my symptoms and figured I must have “chronic Lyme” from going undiagnosed for so long, or I was just so sensitive to mold, which is everywhere, that I was reacting to my environment just about everywhere I went. I talked with the geneticist about the Lyme diagnosis and she said that she can’t know for sure, but she would venture to say that I never had Lyme disease. She said a lot of other EDS patients go down the same road and are misdiagnosed along the way.

I think back to how expensive the Lyme “expert” was (he didn’t take insurance) and how he pushed his line of expensive supplements and treatments on us. My parents spent so much money trying to get me better. It makes me sad and angry. Angry that there are people out there who capitalize on people who are sick and desperate for answers.

This past summer, things got so bad that I couldn’t just keep “accepting” my symptoms and trying to live with them. I started seeing more doctors again. There was the neurologist who told me she thought I might have Multiple Sclerosis, then she was sure I had something called Sarcoidosis (since my grandmother had it), then when all testing came back negative, she told me that I just had anxiety and needed to figure out a way to “snap out of it.” I’m serious. I wanted to say, “thank you. After 16 years, you’ve finally figured it all out. I need to just snap out of it. I’ll go home and do so. Thank you for curing me.” Instead I kept quiet, vowed to never go back to see her, and cried on the way home.

There was one good thing that came out of seeing this horrible doctor. She ordered a whole lot of tests. One being a spinal tap to test for MS. After my spinal tap, I got the most horrible post-lumbar puncture headache, which led to me going to the ER and having something called a blood patch done. With a blood patch, blood is drawn from your arm and then an anesthesiologist uses a giant needle to inject it into your spinal canal, to form a “patch” over the hole caused by the lumbar puncture, and thereby getting rid of the terrible headache. It worked. But the anesthesiologist had a hard time getting the needle in the right spot and told me that my back did not feel normal for a 30-year-old. He said that it felt like I had a connective tissue disorder.

I wish I could remember this doctor’s name so I could thank him! I didn’t even know what a connective tissue disorder was, but I started researching and that’s when I learned about EDS. I also learned that you have to be diagnosed by a geneticist and it takes a long time to see one. I made an appointment and was told I would have to wait for months.

In the meantime, I got an appointment with a rheumatologist. I’ve learned now that if you can get an appointment with a specialist in less than 2 weeks, they might not be the best for treating complex medical conditions. This doctor spent less than 15 minutes with me before saying that she thought I had a somatoform disorder. I majored in psychology so I knew what this meant. A somatoform disorder is a psychological disorder where a patient experiences physical symptoms that cannot be explained by an underlying medical condition.

I could feel the tears welling up but I held back. I asked her about EDS and if this could explain things. She said no and that if I had EDS, I would’ve had an aortic rupture by now. There is a form of EDS that can cause an aortic rupture, but it is very rare and the more common type of EDS does not cause this at all. She was very misinformed and will be getting a letter from me soon.

Since I started learning about my new diagnosis, I joined some groups on Facebook for people with this disorder, and have learned that these misdiagnoses are, sadly, way too common for people with EDS. Its pretty upsetting to think back on how I’ve been treated by some doctors (I didn’t even mention the neurologist who said, “you mean to tell me you actually found a guy to marry you with all your problems?”) but right now I want to focus on moving forward.

I have a diagnosis that makes so much sense from a highly respected geneticist at UMD. My hips have partially dislocated since I was young and I can note so many other things that go along with this disorder. Like the time I had a spontaneous pneumomediastinum, which is basically where air gets into your chest cavity, causing extreme chest pain and possible lung collapse. It explains why I had to have 4 back surgeries at such a young age from ruptured discs that seemed to have no cause.

I remember after I told my boss that I had to have another surgery, she asked me what I did to trigger it. I told her, “all I can think of is when I was walking my dog, she yanked on the leash really hard and I got severe pain in my back.” She gave me a weird look and said, “you can’t possibly be that fragile, can you?” I said, “yeah it doesn’t make any sense”, but now it does. The geneticist said that with EDS, your body sort of isn’t glued together the way it’s supposed to be, so yes I kind of AM that fragile. Well, my body may be, but this crazy health journey has made my spirit unbreakable.

The night after I got the diagnosis I was taking a bath and started crying. My husband came in and asked why I was so upset. He said, “nothing has changed in your body because you have this diagnosis. You’re still the same person you were yesterday.” I told him I was upset because my one dream had always been to get strong and healthy again. I felt like with EDS, this dream wasn’t possible anymore. But I’ve come to believe that that’s not necessarily true.

It might look different than it would for most people, but I can still get strong and be the healthiest person that I can possibly be, even with this diagnosis.

So, what’s next? Well, the good news is that my doctor thinks that she knows whats causing my severe daily headaches. When you have a connective tissue disorder, the dura that covers your cerebrospinal fluid is much more prone to tears than most people. This can cause a leak in cerebrospinal fluid, which causes severe headaches, which get worse as the day goes on (the longer you’re upright), which is the case for me. It can also cause dizziness, ringing in the ears, cognitive dysfunction–all things that I’ve been experiencing. This can happen spontaneously, but it can also be caused by spinal surgeries. She’s thinking that I may have had a spontaneous leak that started when I was 16 and my recent back surgery could have caused another leak, making my symptoms worse.

The great news is that cerebrospinal fluid leaks can be fixed but the tricky thing is that they can be really hard to find. So we’ve sent my medical records off to the top institutions that treat CSF leaks–Duke and Stanford. It’s going to take some time to get in to see a doctor there, and we’ll have to travel, but I’m willing to do whatever I need to do to get the best possible care. If my headaches can be reduced, my life would change dramatically. I can deal with the other not-so-fun symptoms that come with EDS, but if I didn’t have these relentless headaches, I could get back to work and back to living a somewhat normal life.

It’s been quite a journey to get to this point. People with EDS are known as medical zebras. The Ehlers-Danlos Support website explains it like this:

“‘When you hear the sound of hooves, think horses, not zebras.’ This phrase is taught to medical students throughout their training. In medicine, the term “zebra” is used in reference to a rare disease or condition. Doctors are taught to assume that the simplest explanation is usually correct to avoid patients being misdiagnosed with rare illnesses. Doctors learn to expect common conditions. But many medical professionals seem to forget that “zebras” DO exist and so getting a diagnosis and treatment can be more difficult for sufferers of rare conditions. Ehlers-Danlos syndrome is considered a rare condition and so EDS sufferers are known as medical zebras. This identity has now been adopted across the world through social media to help bring our community together.”

I’ve always thought that zebras were beautiful and fascinating. Now I get to identify as one. If given the choice, I certainly wouldn’t choose to have this condition. But I do have it, and I plan to make the most of life with EDS.

Having a name for whats going on in my body and being able to look back and connect the dots changes a lot.

I’ve never believed that my symptoms were all in my head, as some doctors insinuated. But never having a diagnosis that really made sense, or doctors that I felt confident in, was hard on my psyche. You start to question yourself.

I feel blessed to finally have a diagnosis and to have such a great doctor leading my care. I plan to write letters to the doctors that misdiagnosed me or left me feeling like my symptoms were all psychological. And I’ve already met some amazing, inspirational people in the EDS support groups that I’ve joined. A group of zebras is known as a “dazzle” — how cool is that? I plan on doing my best to live a fulfilling life and *dazzle* despite a difficult diagnosis.