Diagnosis: Ehlers-Danlos

Around two years  ago I began a series of lifestyle changes. I was conscious about the food I ate, the activity I took part in, and becoming the healthiest Amie I could be.  Everything seemed to be going well! I was a golden brown from outdoor running, my hair  glistened with yellow hues from the sun, and I had lost about 40 pounds (18 Kilos)! I was perhaps, in the best physical condition of my life. I ran for my mental health, I ran for my physical health, and I absolutely loved it. I was literally taking my early 30's by storm. 

A year before this, I had visited a private Orthodontist to inquire about getting braces.  My teeth had always been misaligned but, I was having a lot of difficulty chewing properly and experiencing headaches from nighttime bruxism.  The orthodontist took X-rays and unfortunately had to refer me to the University Hospital System because he found a skeletal defect that he was unable to correct with orthodontic appliances alone.  At the time I didn't really understand what this meant. I waited for a year in the queue (line) to see the University senior Orthodontist. They took a few measurements and radiographs and I was diagnosed with a Class 3 malocclusion and a severe cross-bite. A month after this consultation I was fitted for braces. 

During this time I had a lot of aches and pains and I assumed this was just collateral damage of running and the gym! I also had a series of unfortunate things happen with my braces. My teeth moved rapidly, my nighttime grinding reached and all-time high, and I had severe chewing/talking issues because my jaw became so tender. I complained about this to my Orthodontist and she brushed it off in the beginning. I guess she just assumed I was sensitive and complained a lot. I'm sure this was a common assumption from anyone I spoke to about this problem.  I endured the jaw pain, headaches, tooth pain etc for a few months. 

A few months later she noticed I lost around 10 pounds and became concerned. I weighed around 128 pounds at this time and I began to look unwell. I told her I wasn't able to chew and I basically stopped eating most of my normal meals. I ate soft foods (eggs, avocado, peanut butter etc) and I even exercised a little less. At this point she ordered a bite guard for me and sent me to a nutritionist and to physical therapy for my jaw/neck. As I mentioned, I was something of a "gym rat" but, starting to slow down. I had noticed numbness in my left leg and after jumping from my seat to grab a coffee one day and falling flat on my face- I finally decided to go to the ER. I don't want to go into the difficulty of finding the right doctor in Finland. I will say I literally went to the Emergency room, urgent care, local health center around 30 times over the course of 2 years. Each time I was assessed.  Each time I was sent away with some inconclusive diagnosis or one of these jewels: migraine disorder, herniated disc, muscle cramp, sciatica,  non-specific nerve pain in face, neck pain, anxiety, etc. I am not going to bash the Finnish healthcare system because the treatment i'm receiving now is as good as any -and who knows how this would have been handled in any other country. Being dismissed by medical professionals can happen anywhere. It's also extremely damaging to ones self-esteem.  Maybe I was discounted because i'm a foreigner, maybe because my symptoms were so random they believed I was a hypochondriac. Regardless, the story continues. 

When I was FINALLY able to receive care I usually ended up going to a private clinic (where I was treated for facial nerve pain and chronic neck pain). I will say my own doctor wrote me 2 referrals to the specialist (Physiatrist) ( which were both denied) with no basis.   I got a letter in the mail that said they would not take me twice. I became extremely defeated. My symptoms came and went. Sometimes, I had what I thought was a "flare-up" and I basically couldn't get out of bed. I had problems moving my legs, going to the bathroom, dizziness (felt like I was falling 1000 feet suddenly, nerve pain in my face, arms, legs, stomach pain, and so on.  Sometimes, most of it went away. Other times I convinced myself I was going to die. I have to admit I have been abroad a while but, of course I still long for the comforts of home. ESPECIALLY, when i'm not feeling well. I want my old friends, my family, my mom.  Those things are in the United States and i'm in Finland.  Thank G-D I have a wonderful partner who never doubted me and has taken care of me every step of the way! Of course I have friends here in Finland as well but, it's also hard to reveal your broken self to people. It's almost an identify crisis between the able-bodied person you were -and now the new chronically-ill person with no diagnosis that I was becoming. You can't develop deep connections with people when  you're consonantly spouting off complaints of feeling bad and wrestling with your own health. Especially when you look perfectly fine.  

After a number of times complaining to friends/family near and far about the same pains over and over again-it does begin to fall on deaf ears.  Not because people don't care but, they don't always know how to help, what to say, and plus when someone sees pictures of you smiling on Instagram/Facebook you don't seem very sick after all.  You don't fit the image of a sick person.  It's a huge disconnect.  This is the stigma of having an invisible chronic illness. 

So here we are to the big day from last week. I finally was able to see the Physiatrist. 

What is a Physiatrist?

 Physiatrist (or rehabilitation doctors) are nerve, muscle, and bone experts who treat injuries or illnesses that affect how you move. Rehabilitation physicians are medical doctors who have completed training in the medical specialty of physical medicine and rehabilitation (PM&R). 

I was extremely nervous to see this doctor. I had been waiting for months and struggling with my symptoms. Yesterday was the first time I was finally able to give my chronic illness a name. I still need to have an MRI to rule out any further complications with my neck ( next month). For now, i will start treatment (medication, more specialized physical therapy, and shoulder/neck brace). Soon and hopefully be able to manage some of my pain and discomfort. 

I will be honest at the beginning of this diagnosis, I was in denial. I wanted to believe this was wrong. Particularly because there is no cure. The first thing I thought was- this is not me! Then fear of what this meant, fear of the future, of the present. I was met with relief and fear. The more I research, the more I can accept that this is a part of my life and just like anything else I have to deal with it. I still have questions. Why now? Why did this suddenly get so bad? Will it get worse? Will I be in a wheelchair? I guess these questions aren't important. The only thing I can do is manage one day at a time. I think that's just life. 

 Elhers-Danlos: Hypermobility 

So what is Elhers-Danlos Hypermobility (EDS). It is a collection of inherited (genetic) conditions that fit into a larger group, known as heritable disorders of connective tissue. People generally don't tend to fit neatly into one of the six categories so it's also possible to have cross-over symptoms.  Some people who have this condition never have problems, others are significantly impaired. Luckily, the form of EDS that I have is the most common and treatable form. I say that with caution, because some people cannot get out of bed, are unable to walk/work, and rely on assistive devices such as crutches, canes, and/or wheelchairs. When compared to more rare forms of this condition such as the Vascular type- this form seems more easily managed.  At least in my mind. I don't know what the future holds for me but, I haven't started treatment. So, i'm optimistic I will begin to manage my symptoms more effectively. 

Because this condition is rare, I wanted to write about it. I haven't been 100% open about my diagnosis because in a way it's very private. In another way, I would like to advocate awareness for this condition. 


How does EDS affect me? 

This is probably the biggest question for those who know me! These are my symptoms: 

-Joint Hypermobility (neck, arm/shoulder, jaw, knees, elbows)
-Debilitating musculosekeletal pain (chronic neck/shoulder pain) 
-Cerviocranial instability
-Subluxation (half dislocation) of shoulder/arm joint
-Difficulty raising arms, carrying bags, lifting 
-Gastrointestinal problems (acid reflux, GERD, stomach pain)
-Urinary Dysfunction
-Dizziness/vertigo/fainting (Autonomic Nervous System)
-dental problems (gum disease, hypermobility of teeth, bruxism, tooth loss, gum recession)
-Temporomandibular Joint Dysfunction 
-Stretchy/elastic skin
-Chronic Fatigue
-Nerve Pain (facial nerve, arms, legs, pins and needles)
- Intermittent heart palpitations (tachycardia) 
-Sciatic pain
-Migraines
-Sleeping disturbances 
-Myofascial Pain syndrome 

Jaw Surgery Postponed 

The recent diagnosis was also a huge surprise to my Orthodontist. She was surprisingly familiar with this condition. She also treated me with no idea I had EDS. Which, I suppose is quite problematic considering the fragility of my gums and other dental manifestations. I'm quite sure if this had been diagnosed earlier, my orthodontic treatment would have gone entirely different and I would have suffered much less.

The Orthodontist was only informed about my condition yesterday, and this resulted in an 1 hour 15 minute appointment ( they usually last max 25 minutes). A separate doctor was called in to consult, and now my surgery has been postponed until the Ortho meets with the surgical board.  I was originally told that my surgery would be in late September/earlyOctober and now I have no idea what to expect. I have no idea what this means. I have basically been planning my life around this surgery and patiently waiting for years. I feel overwhelmingly bad. I just want all of this to be over! This is all new and extremely overwhelming- so my reaction is quite normal. The Orthodontist assured me this was in my best interest and with this recent news they need to re-plan how they treat my surgery. I think this is fair and appropriate considering this is a huge surgery. I just feel disappointed, which I suppose is normal. I read a few clinical articles and she also discussed some risks of surgery with EDS.

You can read about those risks here : Clinical Considerations.

Thank you for taking the time to read my blog! I know this was a very long one!