I Finally Have Answers! If you Have Fibromyalgia and Are Hypermobile, Please Read!!

2018 has been extremely important in finally figuring out what is behind all of my health woes. I have been feeling markedly worse the past several months, with more injuries, more pain, and more questions as to what the hell is happening in my body. As my condition continued to slide, I became more adamant about figuring this out, once and for all. And this is one of those times when things have to get worse in order to get better, because I finally have answers and something that ties all of my apparently random symptoms into a single diagnosis that explains everything for me: Ehlers-Danlos Syndrome (EDS), Hypermobility Type (hEDS).

EDS also tends to bring Mast Cell Activation Syndrom (MCAS) and Postural Orthostatic Tachycardia Syndrome (POTS) along with it, which also seem to be what I have been experiencing, according to the specialists I have seen thus far.  We are still working on confirming the MCAS, as it is tricky to test unless there is an actual reaction occurring at the time of testing.  POTS seems likely per the EDS geneticist and the MCAS specialist, but I need to wait until January of 2019 to be seen by the EDS knowledgeable specialist who can test me officially for that.  A tilt-table test is likely to happen then.

In addition, Osteoarthritis (OA) also tends to occur in EDS patients because of accelerated wear and tear on the joints.  I have already been diagnosed with OA by my rheumatologist, after showing her my Heberden's Nodes which have formed on two of my fingers already.

After reading all about this connective tissue disorder and how it affects people who have them, I realized I have a lot on the very long checklists.  So I sought out a local genetics doctor who is knowledgable  and booked an appointment.  EDS is not well understood by the medical community, as it is complex and there is no real treatment or known cure as of yet.  That means there's really no money in it, so not many doctors invest the time and energy to learn much about it and treat EDS patients.  (Sad, isn't it?)  Despite these challenges, I had to know if this could be the cause of my health problems, so I could at least understand what is going on in my body and try to prevent further injuring it.  I set out to find out who could rule out or diagnose this condition in me, locally.  A local Facebook Group in my area was very helpful in finding resources near me.

In order to be properly diagnosed by an EDS knowledgeable genetics doctor, one must:

1. Discuss family health history, 
2. Have this doctor examine you for certain physical traits and characteristic reactions, 
3. Perform a certain set of specific physical tests in front of the doctor, so he can assess the Beighton Score for hypermobility, and finally, 
4. It may also be recommended to have genetic testing done to rule out or identify certain types of EDS.

Once the several months of waiting for my appointment passed, I finally went to see a local EDS knowledgable genetics doctor and did all of the above.  Everything points to EDS, and the Beighton Score, along with the genetic testing, pointed specifically toward the Hypermobility Type of EDS.  Thankfully, this is not one of the more severe and life-threatening types, but it can still be debilitating.  Unfortunately, debilitating is where I seem to be headed now.  I'm not sure if it's just my age or what I've been going through, but something has caused my body to take things to the next level of awful this past year or so.

Recently, I've been rolling my ankle just walking on flat sidewalk (couple times!), I've had painful shoulder tendinitis that required over weeks of physical therapy to strengthen, I have been having new problems in my hip that make bearing weight excruciating after a period of sitting, and my knees, which have always had a tendency to buckle painfully, are acting up more these days.

I've also been reacting with flushing for no apparent reason and developed new sensitivities to Hydrocodone and Xylitol, in addition to the new food allergy to apples that I've developed in recent years, and the new lip balm reactions I have had as well.

Now that I know what's going on, I needed to understand it.  I have recently been having an awful flare up that's been affecting my neck and shoulder, back, and knees for the past week plus now.  It's been a pretty high level of pain much of the time, and is apparently not being well managed by the Cyclobenzaprine and Low Dose Naltrexone (LDN), which has been helpful in lowering my "new normal" pain levels and giving me more good days between flare ups.  These flare ups, however, are terrible lately.  I have been laid up for several days, including last Saturday, just trying to rest up and heat the affected area.  All it takes is a few days of level 8 pain to make you wonder how you can go on.  I have had to keep talking myself down to get through it.

In my current, painful state, I did some quick research on my newest, and most important diagnosis. I found this page, EDS-H & JHS: Understanding Ehlers-Danlos Syndrome Hypermobility-Type and Joint Hypermobility Syndrome to be very informative and an excellent resource for understanding how all the little diagnoses I have collected throughout my life are all tied to the connective tissue disorder, Ehlers-Danlos.

I'll try to sum up what I know now, but if you or your child or children are hypermobile, you may want to read the above web page as well to see if you relate to other details. 

Okay, here goes...

Collagen is the connective tissue "glue" that holds our bodies together. When this connective tissue is defective and weak, as it is for EDS patients like me, joints can overextend (hypermobility) and less unstable than normal people's joints. When joints hyperextend, dislocations and subluxations (not quite full dislocations) can occur. When joints sublux or dislocate, the surrounding, and already weak tissues (muscle, tendons, muscle fascia, etc.), become overstretched, and can tear and stiffen as they attempt to repair the damage. All of this spells pain, in many ways, at the very least, plus various other problems in the body. For this reason, EDS patients need to protect their loose joints with various braces and limited activities. This explains my several ankle rolls and foot tendonitis, shoulder tendonitis, and carpal tunnel pains. It also explains how that car accident in 2006 triggered a world of hurt in me that never got better, but rather snowballed to where I am now.

When movements and activities lead to these painful and destructive episodes, those movements and activities tend to be avoided - have never been athletic - leading to weakened (doughy) muscles. Weak muscles can further destabilize joints, continuing in a vicious circle of pain and destruction. This explains my chronic pain and flare ups.

Weak connective tissue manifests many ways, such as Fibromyalgia, a syndrome that describes chronic pain, fatigue, sleep disorder, Irritable Bowel Syndrome (IBS), Migraines, Temporomandibular Joint Disorder (TMJD), allergies and various sensitivities, and lots of other odd little things that make my life extra challenging.

EDS is associated with 2 other conditions that are frequently comorbid: Mast Cell Activation Syndrom (MCAS) and Postural Orthostatic Tachycardia Syndrome (POTS).

Mast Cell Activation Syndrome (MCAS), has to do with histamine and allergies and sensitivities. Basically, any kind of physical reaction that can occur as a result of any kind trigger is fair game. For me, this explains my hay fever and allergies to tree pollen, weed pollen, grass pollen, dust, dust mites, feathers, animal danders, mold, fragrances, newspapers, apples, lip balms, nickel, scratches, pressure, Hydrocodone, sudden temperature changes, and who knows what else. My reactions include rhinitis (sniffling, sneezing, and nasal congestion), asthma (cat dander, mold, dust mites, fragrances), digestive cramping and dumping (apples, hydrocodone, and unidentified triggers), hives (Dermatographia from scratches, Delayed Pressure Urticaria from pressure), dermatitis (lip balms and nickel), and flushing red and burning skin (sudden temperature changes and unidentified triggers). A lot of "masties" may suffer anaphylaxis when exposed to some of their triggers. I have had a few episodes myself in the doctors office after a slightly too high incremental increase in my desensitization injections, and have had to do the Epi-pen and inhaler thing. It was quite a production!

The other comorbid condition is Postural Orthostatic Tachycardia Syndrome (POTS), a type of Dysautonomia, which has to do with blood pressure changes, heart rate changes, heart arrhythmias, and fainting or near fainting, that is triggered by one's change in posture. This is due to blood pooling at lower areas of the body rather than circulating more reliably throughout the body. It goes back to weak connective tissue causing weak blood vessels and heart tissue, which, in turn, results in poor circulation of blood in the body and brain. This explains my momentary blindness and dizziness when getting up quickly, my unexplained heart rhythm (tachycardia) episodes - the first one triggered by my bending down to pick something up at age 17 lasted hours and I had to go to ER - and an apparent heart rate change when I squat for a couple minutes then stand up straight, as a specialist tested. I also get migraines, which are caused by a decrease in pressure in blood vessels, which makes sense here.

Some types of EDS affect internal organs and can lead to weakened arteries and digestive tract organs, which can rupture. Vascular type is particularly dangerous, but there are 13 types of EDS and several of them carry serious health risks. Hypermobility type is what I have been diagnosed with, though many of the 13 types also present with hypermobile joints. Genetic testing helps rule out or diagnose the types which have identified genes. EDS is inherited and it is usually the same type that runs in families.

The gene for Hypermobility Type has not yet been identified, so testing is done to rule out the other types, which is how I was diagnosed, along with family history and a clinical Beighton Score test for hypermobility.

This turned out to be way longer than I expected it to be, but I hope it helps someone make sense of their symptoms or lead to a correct diagnosis and proper care. Please feel free to share with others. EDS is not as rare as it seems. Doctors and patients need to know more about it so people can get the care they need and patients can arm themselves with knowledge against unnecessary injury and pain.

If you or your kids are hypermobile, please learn more about EDS and pay attention to these seemingly unrelated conditions and symptoms. There is a tie in!

When symptoms don't seem to connect, think connective tissue!