Thursday, October 9, 2014

Invisible Boy

My brother is a magnet for weird, dangerous, painful happenings.

He got really badly sunburned when he was a baby- I mean really badly.
As a toddler, he got into a tube of Icy Hot...and tried to eat some of it. It did not go well.
In preschool, he got very sick with some strain of hand, foot and mouth disease (the vaguest-sounding disease ever) and honestly could have died. I had to go stay at my grandma's and my brother was hooked up to an IV and stayed connected to it as he slept on my mattress on the living room floor with my mom.
He got his hand smashed in a car door.
He knocked the top of a tripod off its stand and cracked his nose.
He dropped a dagger one time and in a rush of adrenaline tried to catch it- and caught the wrong end.
He fell off the monkey bars on field day and broke his wrist- and the teacher didn't believe him that it was really hurt (she comes in my library sometimes and I still glare at her.)

Toward the end of high school, he started becoming less active. He used to do tae kwon do and run around with his friends all the time, but he started hurting. It got pretty bad before he told anyone about it. I don't know why he didn't think it was important enough to share, but after a while, he told my parents and he went to the doctor. The first suspect was scoliosis. It runs in my family. My mom had it when she was younger, and saw a chiropractor. My aunt (on my dad's side) had it and had to wear a brace. I had it and had to have surgery. So my brother went to see my spinal surgeon....who said that he didn't really have scoliosis. Maybe a touch of arthritis, though. But who doesn't have a touch of arthritis? So that was the next suspect. Arthritis also runs in my family. My dad had to have both his hips replaced by the time he hit his 40s. We are a very pained people, I guess you would say. So my brother went to see another doctor, because arthritis meds weren't really helping. I don't remember the exact chain of events that led to his eventual diagnosis, because it was around the time I got married and I was out of the house a lot (and then permanently, after the wedding.) But he did get a diagnosis: Ehlers-Danlos Syndrome. Which you have never heard of, I can almost promise. It was mentioned twice on the TV show "House", once as a theory and once as an actual diagnosis, but nothing was ever explained about it. No one understands this disease unless they know someone who have it, or have it themselves- and even then it doesn't really make sense.

Ehlers-Danlos Syndrome, or EDS, is actually a collection of diseases. There are different types of EDS, kind of like how there are different types of diabetes...except there are way more types. Some types are mild and go undetected for decades, if not a person's entire lifetime. Some types are fatal and result in a very short life expectancy. Some types are in between. Some manifest mostly in physical pain, and some have sneaky complications like heart problems. Basically, EDS is a collagen defect- the collagen in your body doesn't work like it should. It's too stretchy and unreliable. The bad thing is, collagen is everywhere. Here are some examples:

  • Your joints have collagen. EDS patients are "bendy." Some might call it double jointed. It leads to some neat party tricks, but it also sucks- you can dislocate something or "sublux" (pop it partially out of joint) doing everyday things. Like getting up out of bed. Or opening the refrigerator door. EDS is a disease of pain because of this. 
  • Your heart has collagen. EDS patients have to be very suspicious of chest pains, because sometimes, they can have what's called aortic dissection, where one's aorta just rips. It is fatal if it's not caught in time. You know those news stories that pop up now and again, where a middle schooler collapses and dies during a sports game, or a teenager dies of an "undiagnosed heart condition" after having too many energy drinks? Almost all of the time, those people are found to have a type of EDS at their autopsies. Mitral valve prolapse and arrhythmia are other complications of EDS. I'm sorry if this sounds scary, but it's truth. EDS needs to be taken seriously. 
  • Your skin has collagen. Some EDS patients have super stretchy skin, which can tear easily or bruise like crazy. There are many stories of parents suspected of child abuse because these wounds appear on their kids. Parents of kids with EDS have even temporarily lost custody of their children because well-intentioned doctors or ER personnel don't really know what the disease is. 
  • Your internal organs, like your stomach, esophagus, and intestines all have collagen. EDS patients may be prone to tummy troubles, like IBS and reflux.
  • Ever heard of dysautonomia? It's hard to explain. Basically, the stuff in your autonomic nervous system is wonky. POTS, or postural orthopedic tachycardia syndrome, is a medical condition where a person's heart rate goes crazy when they stand or sit up, causing them to feel faint and sick. POTS is a good example of a type of dysautonomia. And dysautonomia is common in EDS patients. 
  • You know what you don't want to be loose and unreliable? Reproductive organs. Women with EDS have a high rate of miscarriages, if they can even conceive in the first place. The blood vessel walls in the uterus can also be prone to rupturing, which may lead to serious illness or death for the mom. 
In short, EDS is rough. And permanent. And really frustrating. It's one of those "invisible illnesses" for one thing. Some people really don't believe you're sick unless they can see it. And they think all illness is the same. So when someone uses a motorized cart at the grocery store, and they stand up a bit to get something off a top shelf, others might make fun of them because of the assumption that they're lazy and they're faking it. But it's entirely possible that that person in the wheelchair has something like EDS, or POTS, which makes walking around the grocery store a near impossibility. People can be incredibly judgmental when it comes to disability. 

This afternoon, I went to see my family's orthopedist because of some problems I've been having with my hip. I've been in a tremendous amount of pain over the past 6 weeks or so. My hip (and other joints) bothers me from time to time, but this was set off by an incident where I stood up from a sofa, and my hip popped partially out of place. We've kind of assumed that there was a good chance that I, like my brother, may have a type of EDS because of the sheer number of symptoms I have (too many to list here.) I just hadn't really had a doctor confirm it. So I was nervous about going to the doctor today. I do not want what my brother has, because he is often miserable. He is in so much pain and has so many problems. Good days are pretty few and far between. He can't work, he can't drive, and he had to stop going to school. It's hard. 

Anyway, the orthopedist today said that yeah, I basically do have EDS. The symptoms are pretty hard to ignore. Of course, the only true confirmation of this diagnosis is genetic testing, which I guess I will be scheduling soon. The testing will help determine what type of EDS it is, too, which will in turn help me know what to expect and what to look out for. In the meantime, I need to set up an appointment with my regular doctor to discuss pain management, since surgery and therapy and all that can't really fix my hip. And I have an appointment at the hospital two weeks for now to get some crazy shot in my hip to help relieve the pain. I was told that they have to do it "with fluoroscopy"  to guide the injection to the right place, so that's fun. "Got any plans next week?" "Yeah, I'm getting a shot in my butt." Exciting. point in posting this. I guess mainly to ask for prayer. I'm not devastated or anything like that, because I was kind of expecting this eventually, but I am bothered. And frustrated because my hip hurts. And tylenol and ibuprofen are starting to make me pretty sick. I also wanted to explain something that's a big part of my family's life. Most of the universe does not understand what EDS is. There are some great support organizations and specialists out the United Kingdom. Seriously. There is one clinic that helps EDS patients in Ohio, and a new clinic in Maryland that's run by geneticists who treat EDS patients exclusively. The waiting list for an appointment is freakishly long, though. The one doctor we've encountered in my city who has a decent understanding of it- the ortho guy I saw today- doesn't treat it. There's not a lot of support out there, or awareness, and that can lead to some frustrations for us, too. For example, physical therapy will not fix EDS. In some patients, it might provide some pain relief after an injury. But it's not a cure. And we know people who think that it is. We know people who get upset when my brother has to use a walker or a wheelchair, which are necessities for his mobility sometimes....I think they're mainly upset that a young man who was once pretty healthy could have a debilitating illness. But can you imagine how hurtful it is to hear a loved one say "you don't need that?" Or to get kind of judgmental about your doctor prescribed pain management? And then you have the people who judge you for not being able to work. Or thinking that if they had this disease, they'd just "get through it" and do what needs to be done. The people who don't understand that not just paralyzed individuals need to use wheelchairs. Or not just people without wheelchairs might need to use the handi-capable stall in a public restroom. EDS is hard. Invisible illness is hard. Pain is hard. My family is pretty strongly affected by all of this. I'd love to have your prayers for my brother, because I know he's been having a hard week. His whole life has been weird at times and full of these random challenges, like all of the things I listed at the beginning of the post. And I'd appreciate your prayers for me, because pain is keeping me from doing some things I need to do, making life at work and at home rather frustrating and difficult. I'm looking for patience and endurance. And financial provision, too, because chronic illnesses and disabilities can be expensive, especially if they are progressive. 

And that's the end of this impromptu informational session on Ehlers-Danlos Syndrome, a hypermobility disorder. It's good to learn new things, even if those new things are a little depressing. Now that you know more about EDS and invisible illnesses, I hope that you can encourage others to be more compassionate when you see things like, say, the internet meme of the woman sitting in a chair in a fast food line. Maybe she isn't lazy at all. Maybe she's in pain, or she has heart flutters and needed to sit down. After all, a wise person once said "be kind, for everyone you meet is fighting a hard battle."

There's a popular saying among med students and doctors: when you hear hoofbeats, think horses, not zebras. It means that the most common diagnosis is probably the right one. Since EDS is kind of rare, it would be a "zebra" among horses. EDS patients around the world have adopted the zebra as their unofficial mascot because of this. 


  1. I'm sorry to hear that you most likely have EDS. I will be praying for you and your brother. Although I don't know what it's like to live with EDS, my husband has ulcerative colitis...a different chronic illness, but also unseen with stuff like joint pain, etc. in addition to ulcers in his colon. Anyway, that's all to say, I know how hard it is on him when he has flare-ups, but nothing is visible to the eye. People like to see diseases. But there are hard ones to live with that aren't the bystander.

  2. Oh Jessi. I'm so sorry to hear you're suffering in this way. I have a friend who has EDS, so I know a tiny bit of some of the struggles you face, and I also have an illness that have questioned whether it even exists because I don't always have physical symptoms. It's certainly tough. I'm praying for you and your family so much right now. xx


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