Rainbow Zebras, Or Something Like It

In medical school they tell students "when you hear hoof beats, think horses not zebras." It's a way of saying that the simplest explanation is usually the right one. But then, there are people like us.  People who spend years trying to find the right diagnosis, going from doctor to doctor, being told it's a million different things, only to have all of those things be wrong. People who are told that it's in their heads, that maybe they "should talk to someone." People who spend years in pain and are being treated like addicts because narcotics are the only thing that helps them function. People who just simply aren't believed.

People with EDS have actually adopted the zebra as their mascot because they are the zebras. They are the ones who don't fit the simplest explanation, who don't get easily diagnosed and are generally dealing with several co-morbidities. People assume that Ehlers Danlos is rare, but the truth is that it is just grossly under diagnosed. It can take people years, decades even, to get a proper diagnosis. That's a hard thing when you're in the trenches dealing with pain every day.

In this, we have been relatively lucky. It's been about a year since I started investigating EDS as a cause our joint issues. I came across it while researching POTS right after Ali got sick. For a LOT of people, POTS and EDS go hand in hand. I learned all about EDS, about how it affects the collagen, how it's genetic and a parent has a 50% chance of passing it to their kids. As I'm reading this information to my dear husband he says "oh yeah I have that." ... Thanks honey.

Well, yesterday was our first genetics appointment for Dylan. He seems to have the most pain, so we decided to deal with him first. In doing research for the appointment, family history and such, it became VERY apparent that I too have this or some sort of connective tissue disorder, and that it came from my father. (My mother was positively giddy about that lol.. She figures we blame her for everything else but this one's on him!) I am not usually nervous about appointments because we have so many, but this one had me a bit wound up. But it went really well.  Ish.

See, we aren't just zebras. Apparently we're rainbow zebras. Or something.

There are several types of EDS (12 or 13, I think). They all have similar symptoms, but each type has certain things that are more common in that type. The longer we sat and talked with the not doctor today, the more we realized that Dylan just doesn't quite fit anywhere. He's kinda like square peg/round hole. He meets almost all of the criteria for Hypermobile EDS, but isn't hypermobile in the joints they expect you to be in. He has elbows like this...

 (yes that's Ali)

And Thumbs like this...

But not pinkies like this...

 He meets some of the criteria for Classic EDS, but he doesn't have the right type of skin. It should be soft and velvety, super stretchy and doughy. Ali does have it though.

Since we couldn't shove his square peg anywhere, we decided that doing genetic testing was the best way forward. Now hEDS can't be diagnosed with a blood test because it's gene has not been discovered yet. The rest, however have. So we are testing for several different types, including Classical and Vascular, which is the most severe form of EDS, along with some other things. Our concern with vascular comes from my dad's history of aneurysms and pneumothoraxes.

He is also sending Dylan to Ortho to attempt to get an idea on what to do about his spine curve and get a handle on his joint pain. It was a really great appointment, and I was really glad to have a doctor who didn't blow us off or make us feel like we were making things up. In fact, by the time we left he had decided he wants to see Ali as well, and that "there's something very weird going on in your family." lol. So basically we stumped and intrigued the geneticist. I'm okay with that. Rainbow Zebras.

To be honest, I was afraid that if we didn't walk away with a definitive diagnosis I would be upset or feel defeated. And I'll admit, for about a half a second about halfway through the appointment I could feel it creeping in. But really, we don't know anything yet. It'll be weeks before we have results and honestly there is something going on, we just aren't sure exactly what. I am, however, confident that we are on the right path to getting Dylan the right treatment and support to get him a better quality of life. And I guess that's all we can do.

Okay excuse us, off to the pediatrician with Ali. It's a FULL week of appointments. Wish me luck. Have a amazing day <3