About Me

My name is Niki. I am afflicted with Ehlers Danlos Syndrome, type 3. I am currently 28 years old, and reside in the great state of Wisconsin.  This is part of my story…

I was sitting in yet another doctor’s office. My “last hope” appointment with a Medical Geneticist was about to begin. As I sat up on the cold table in the ugly, backless gown waiting to meet yet another doctor I couldn’t help but glance over at my husband, whom I’d begged to accompany me this time. He smiled at me and glanced at his watch, looking a bit bored and every bit as tired of all this as I was.

Finally I heard the knock at the door and the doctor strode in smiling, followed by an assistant. I smiled back tensely; hoping that this time, there would be a real answer.

He started with the regular sorts of questions; symptoms, duration, previous ailments/treatments and the like. But then, unlike the other doctors, he actually listened to my answers. Instead of snapping out a prescription pad, or telling me I was just stressed or over tired or any other nonsense and shuffling me out of his ugly gown and busy office, he wanted to know what I thought about my problems.

I’d had plenty of experience recounting my symptoms to other doctors so I was prepared and began rattling off my symptoms and my past history of seeing doctor after doctor and getting brushed off, ignored, discounted, or branded a hypochondriac. I pulled out my long, typewritten list of pain and problems and presented him with the copy. He looked it over while I waited a few tense minutes. When he looked up at me I burst into tears and sobbed to him that I thought I had either Marfans Syndrome or Ehlers Danlos Syndrome.

After I composed myself I explained to him how I had become so frustrated with doctors not listening to or caring about me that I’d turned to the internet to get some answers. After searching out my symptoms again and again, Connective Tissue Disorders kept coming up. All of them were frightening, especially the ones that caused early death, or extreme pain and none of them are curable.

Instead of laughing at me, he nodded slowly and very seriously. He and his assistant got right to work, spending over two hours looking at my past MRIs, and taking what seemed like millions of measurements. Then we began what is called “Beighton testing.” This was a test to assess my hypermobility. He checked my fingers, wrists, elbows and legs. He said to his assistant, “Make a note of a score of 9 in the chart please.” I wasn’t sure what that meant, so I asked if a 9 was good or bad. He smiled at my wryly and said “The scale only goes up to 9. You maxed out.” Then my knee cap promptly dislocated in his hand. Looking a bit startled he put it back and said “Make a note of that too.”

Finally after all the poking, prodding, measuring, twisting, bending and explaining he turned to me and said the some of the best and worse words I’d ever heard. “There is no doubt in my mind that you do in fact, have a Connective Tissue Disorder. (CTD)  Now we just need to find out which one.”

As I sat there, stunned beyond belief, it slowly started to sink in. I had the start of an answer. I had a doctor who was willing to find out what was wrong with me! He wasn’t going to send me home with pills or orders to sleep more and stress less. He was going to help me. 

So we began the genetic testing. Each genetic test was expensive and took over a month to get the results back. Thankfully my insurance deemed them medically necessary and approved our request. We scheduled the genetic tests needed to determine which of the many gene mutations I might have. We agreed to start with Marfans testing since I showed many Marfanoid features.

I spent the next month on pins and needles, irritable, scared and impatient. When they finally called to say the results were in I held my breath as they read them to me. There was no evidence of the mutation that causes Marfans. So on it went with more testing and I ran through the tests for Loeys Dietz syndrome, and Ehlers Danlos type 1, 2, and 4. Thankfully LDS and EDS 4 came back negative. Because Ehlers Danlos is understudied, the testing for types 1 and 2 is only about 50% sensitive, and as such my result was inconclusive. Based on my clinic presentation, my genetic results, and my history I was diagnosed as having Ehlers Danlos Syndrome type 3, also known as “Hypermobility type” with Marfanoid Habitus.

My joy in having a real, honest to goodness, name for my problem was short lived though. Reality set in as I recalled what I had read in my internet searches and medical journals.

EDS type 3, also known by (what I feel is) the misleading name “Hypermobility type,” is not a pleasant condition to endure. While type 3 is not associated with a decrease in life expectancy, it is one of the most painfully debilitating forms of the disorder. Most affected people will find themselves needing the aid of a wheelchair at some point, many as early as their teens. The average age of diagnosis is 27 years of age, my age at diagnosis exactly.

Because of its name “Hypermobility type” many people are misled into believing that it’s no big deal. A little hypermobility sounds ok, maybe even good, right? It just means you’re extra flexible, right?

Wrong.

What it really means is that your collagen is defective. Instead of acting like glue to keep things like your joints, skin and veins flexible, yet intact, it acts more like play putty, stretching, bending and breaking. This causes frequent (usually daily) joint dislocations and subluxations (partial dislocations). It results in thin, fragile (sometimes very stretchy) skin that cuts and tears very easily, bruising and healing that takes much longer than normal to resolve, and daily chronic (severe) pain. It also comes with approximately a 50% chance of developing a dilated aorta, which can be deadly if it dissects. (Thankfully, dissections are not particularly common in EDS 3.)

 Other complications often include irritable bowel disorder, delayed gastric emptying, acid reflux disease that resists treatment, Postural Orthostatic Tachycardia Syndrome (known as POTS for short), Dysautonomia (a cardiac condition), fibromyalgia, degenerative disc disease, osteoarthritis, dental problems, sleep apnea (It is important to note that while central sleep apnea is rare in the general population, it is quite common in EDS and other CTDs. Most central apnea sufferers do not snore, so do not assume you are not affected if you don’t snore.), hearing and bone loss, cranial settling, Chiari syndrome, sleep bruxism, and many, many more.

It doesn’t sound so innocuous anymore, does it? All of the above is why I prefer not to call it “Hypermobility type.” It’s just too misleading. It’s like calling Cancer “cells that divide at an abnormal rate” or Diabetes a “slight sugar intolerance.” It over simplifies a condition that is anything but. In fact, many patients find that primary care doctors (who don’t usually diagnose these sorts of disorders) will hear EDS “Hypermobility type” and confuse it with BJHS (Benign joint hypermobility syndrome) and dismiss it as nothing of importance. (I certainly don’t mean to imply that BJHS doesn’t cause problems for a patient, but the problems are relatively minor when compared to EDS.)

To receive the best care for a CTD like Ehlers Danlos Syndrome, a specialized doctor known as a Medical Geneticist should be sought out. They, more so than any other type of doctor, are qualified to diagnose and treat a CTD. If you cannot find a Geneticist, a Rheumatologist should be your second choice. They often see patients with unexplained pain issues, and as such most have developed skills in recognizing CTDs. The doctor who finally helped me was a Medical Geneticist. Unfortunately he left that particular practice and moved on to another shortly thereafter. He had a partner that stayed behind, and she then became my doctor. I was nervous about losing the one doctor who had listened and actually helped me, but it turned out that his partner was just as compassionate and helpful.

These days my Physical Therapist is one of my best friends. They can’t cure EDS, but they can help lessen some of the pain, and they can also provide you with the appropriate braces that make living life a little easier. Currently I have two DonJoy Armour braces for my knees, 6 Silver Ring Splints for my fingers, a neck brace, and an SI belt for my low back and hips. Somedays I use a cane too.

There is a small but steadily growing online community of patients with EDS on websites like:  Facebook, butyoudontlooksick and youtube. Many patients are choosing to blog about their experiences with getting diagnosed and finding pain relief and treatment. When you are newly diagnosed these communities are priceless. They are safe havens of understanding, information, and solace with other people who are just like you.

Now that I have the right doctors and a name for my condition, I’ve been actively pursuing the appropriate treatments, trying not to do things that are harmful to my joints, doing my best to get the word out about this condition, and advocating  for people who are lost and scared like I was before I got my answers. Life with EDS isn’t ever going to be easy, but it doesn’t mean that my life isn’t going be beautiful and happy with my loving husband, family and my dog and cats. I may have Ehlers Danlos Syndrome, but Ehlers Danlos Syndrome doesn’t have me.

Responses

  1. […] • Blog: About Me « My EDS life […]

  2. Thank you so much for taking the time to write your blog.
    My son was recently diagnosed with EDS hypermobility after years of doctors and false diagnoses so I know exactly the frustration that you are speaking of.
    The pain and fatigue is unbearable at times but the doubting attitude of doctors and even family members can sometimes be worse.

    Thanks for all your information.

    • People have to speak up about how badly the doctors treat patients at times. There are great doctors out there, but there are some really lousy ones too. I hope your son is blessed with more of the great ones than the bad.

      • I saw where you are going to see Dr. Francomano. You will not be sorry, it will well be worth your trip. She was the doctor who diagnosed my son. She is extremely caring and through in her examination. She even gives you a draft report on the day you see her to share with your many others physicians. She also is available to contact through email to answer any questions and to even order prescriptions or MRI’s, etc. It was her report that had my sons other physicians finally realize that my son had a real condtion that was causing all his many other problems and we were not just seeking attention.

        Brenda T.


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