I.....am a Blonde Zebra

   Why am I a blonde zebra? Well.... Ehlers-Danlos Syndrome patients are often considered "zebras" because of the saying that one of my doctors told me: 

"When you hear hoof beats, you think HORSES.

But zebras have hoof beats too, they're just much less common."

'You must be a zebra,' he told me. What he meant is that I (as well as most others with E.D.S. and/or P.O.T.S.) have a LOT of symptoms that don't exactly add up. 

If you go to the doctor with joint pain, stomach pain, 'brain fog', nausea, fatigue, etc., most doctors' first suspicions are usually much more common problems such as arthritis, ADD, gastritis and/or CFS. They hear the 'hoof beat' symptoms and think of 'horses'...much more common diagnoses. They also don't usually consider seemingly unrelated symptoms from completely different systems in the body (like skin, joints, muscles, heart, GI tract, etc.) to be all connected such as with Ehlers-Danlos Syndrome.

Because of the lack of doctors who know much more than the typical, 'horse' diagnosis, 'zebras' or those of us with uncommon illnesses often wind up going to several doctors who suspect the 'horse' diagnoses and then hit a concrete wall when we test negative, before we find a doctor who suspects a 'zebra' diagnosis.

So I'm a zebra with hoof-beats like a horse's, if that makes sense ;) 

And the blonde part? 

The most obvious reason is that I AM a blonde. 

...The less obvious reason is that dysautonomia is more common in blonde, fair-skinned people. that's me!! ;D 

Answers! :)

For those of you who know that I've had some bad medical issues in the past several months & have had to miss out on a lot of schoolwork as well as fun events like prom, I've decided to write a blog to inform you of what all has been going on with me and what has actually been causing it all!

For those of you who weren't aware - well, now you are. ;)

I have a couple rare diseases. Don't worry if you've never heard of them; most doctors don't even know they exist.

And now...... *dum dum dummmmmmm......*

~The #1 disease is called Ehlers-Danlos Syndrome.(E.D.S.)~

All my life, I've had pains in my joints & muscles, and since the age of 7 I've had frequent sprains. I never said or thought much of the pain, believing it was normal. My joints have always popped out of place and then back into place (subluxation) all the time, but I thought that was normal, too. After 16 years of silence, I finally had an "AHA!" moment and realized, "wait...I don't think all my classmates get pain all the time or so many dislocations. Maybe this ISN'T normal..." Hah. Turns out this ingenious revelation was right. 

So, after seeing more than 20 doctors (most of which had no clue what was wrong, and/or claimed it was "all in my head"), I have my diagnosis that explains WHY I've had pain all my life! 

Ehlers-Danlos Syndrome is a genetic mutation which results in a defect of collagen. Collagen is the "glue" that holds your body together, and makes up about 30% of the body. It is found in almost every part of your body: every organ, every tendon, every muscle, every ligament, blood vessels, etc.. Because of EDS, every cell of collagen in my body is defective, making it very stretchy and elastic. 

This means my skin is overly stretchy, as 90% of your skin is collagen. I can pull the skin on my arm out a few inches! It's fun to show people (LOL), but because of the fragility, I end up with frequent cuts and bruises. And, it takes about 10x longer for my skin to heal than the skin of someone with normal collagen. 

One way to think of collagen is to picture a rubber band: normal rubber bands are tight but stretchable, and when stretched, they pull themselves back into their original shape. Because I have EDS, my collagen is like a worn-out, over-stretched rubber band: when stretched, it stays loose. It's also similar to a cake taken out of the oven too early: it doesn't stick together well and isn't firm enough.

Because of this, my joints are pretty flexible. But they are worked 1,000x more than a normal person's joints per day, which can result (in the future) in VERY early osteoarthritis and osteoporosis. And since the joints can't keep my skeleton together properly, the muscles surrounding the joints have to work really hard to compensate, painfully tightening up and spasming because the joints are too stretchy.  I end up with several painful subluxations (partial dislocations) everyday, and about once a week I wake up in the morning with my shoulder dislocated...ouch! My fingers collapse when I try to support things with them (like a book, bowl, pen/pencil, etc.). While most teenagers (and people of all ages) are encouraged to exercise by walking, running, sports, etc., my doctor told me NOT to do any of those things very long because it's too hard on my joints! I can swim, and bike for short periods of time, but not much else. I'm also not supposed to stretch my muscles and joints, which means no stretches or yoga.

EDS joint pain has been compared to having VERY severe rheumatoid arthritis in every single joint. And by "every single joint", I mean LITERALLY every single joint: jaw, neck, shoulders, ribs, spine, elbows, wrists, fingers, hips, knees, ankles, toes, etc.. People with EDS have chronic, moderate to severe pain in some or all of their joints. Personally, I have moderate to severe (depending on the day) pain in all of my joints, every day. Pain in every single joint plus the muscles surrounding my joints equals chronic, full-body pain. 

Other organs (including the heart) have to work extra-hard because of the increased stretchiness. Thankfully, I do not have Vascular EDS, which is fatal and results in organ rupture and instant death! :(

Along with everything else, EDS sufferers can also get migraines, vision problems, digestive problems, pregnancy problems, and dental problems.  I get migraines every day radiating from the back of my neck, because my neck joints and muscles get tired of supporting my head - resulting in the migraines. I'm photophobic and often end up wearing sunglasses into bright stores and sometimes even in my own house....sometimes I feel like a creepa, haha ;) Other vision problems accompany my photophobia, including astigmatism, myopia and VERY early presbyopia thanks to faulty collagen. 

There are many different types of E.D.S.. My geneticist knows I either have the Classical (types 1 & 2) or Hypermobility (type 3) type, and genetic testing will decide which one. For more information about Ehlers-Danlos Syndrome, you can check out this site.

There is no cure for E.D.S. because it is a genetic mutation and you can't change your DNA. Its symptoms are treated using lots of different medications (including muscle relaxers, pain medications & narcotics), braces to stabilize joints and delay the onset of osteoarthritis, cains, physical therapy, wheelchairs & other devices to help us do as much as possible with our conditions. 

Blood vessels are also effected by E.D.S., which leads me to my next disease:

~Dysautonomia: Postural Orthostatic Tachycardia Syndrome (P.O.T.S.)~

Your autonomic nervous system controls everything your body does automatically - breathing, heart rate, blood pressure, digestion, responses to gravity, responses to adrenaline, etc. When a normal person stands up, for example, their autonomic nervous system senses "Hey, gravity is trying to pull my blood down away from my brain - I need to make the blood vessels tighter so the blood is evenly distributed!" and acts appropriately. 

For those of us with dysautonomia, our autonomic nervous systems are confused, and therefore don't act appropriately. There are several different types of dysautonomia, and you can learn more about them here. 

P.O.T.S. is known as one of the worst forms of dysautonomia. It is a result of the autonomic nervous system not contracting the blood vessels when I stand up, which results in gravity pulling my blood down and "pooling" in my legs and arms, rather than distributing the blood evenly throughout my body. Specifically, this means that there's not enough blood reaching my brain. And because there isn't enough blood reaching my brain, my heart responds by pumping extra fast in an attempt to get enough blood to my brain. For me, my heart reaches >150 bpm when I stand - that's higher than a normal person's heart rate while RUNNING. And when I walk, it goes up to >200-210bpm: what's considered a dangerously high rate. High heart rate + not enough blood reaching my brain = lots of dizziness and episodes of almost fainting. Unlike many people with P.O.T.S., my blood pressure doesn't drop very much when I stand - otherwise I WOULD be fainting. 

Thanks to my heart working 3x harder than it should, I get very tired, very fast. 

And for people with Ehlers-Danlos Syndrome, P.O.T.S. symptoms are even worse. This is because our blood vessels are stretchy and simply can't contract well enough. About 1/2 of those with E.D.S. have P.O.T.S. as a result of E.D.S..

There is no known cure for P.O.T.S., but about 75% of people who get it as teens are cured or mostly cured by their mid-20s. Its symptoms are treated in two ways:

-Increasing blood volume (P.O.T.S.ies have low blood volumes) by eating high-salt diets, drinking at least 3 liters of water a day, and sometimes a unique steroid that helps the body retain salt and water. I have to dump salt on my food and drink lots of Powerade (which has salt and other electrolytes to help out my heart!).

-Lowering the heart rate using beta-blockers (these create additional problems, however, because they lower blood pressure...increasing the chances of fainting).

In addition to P.O.T.S., I also have something called Inappropriate Sinus Tachycardia (I.S.T.). This means that my body overreacts to the effects of adrenaline: basically, every little thing I do, whether it's reach for a glass of water, move my leg, talk, laugh, etc., causes my heart to race as fast as a normal person's heart rate when they run! This makes me even more tired, and makes me short of breath very easily. 

So there ya go! 

Ultimately, I just have to remember that ALL of this is in GOD'S HANDS, and it's for HIS glory that I'm going through it. And he can heal me if that's his will for me. :) I have it pretty good, all things considered; I can walk, talk, move, eat, sleep, AND I have my faith in God. He strengthens me, encourages me, comforts me, and even loves me to the point that he DIED for me. He gives me peace through the pain and craziness. What more could I need?? ♥