“When you hear hoofbeats, think of horses not zebras.” That’s the saying doctors are taught in their training. What it means is that when you hear hoofbeats, you think of horses because they’re more common so, when a patient presents with symptoms, a doctor should think of the more common illnesses, the horses, instead of the rare ones, the zebras. But this doesn’t always prove to be a fruitful technique.
After spending 2 months in the hospital this summer and having months of testing done beforehand with nothing found to explain my gastroparesis, it was clear to me that we were dealing with a zebra and not a horse. It’s not normal for a 19 year old to suddenly have a non-functioning stomach. Many doctors though have no idea where to go once all the horses have been ruled out which lead me to hit a diagnostic dead end.
After speaking to a very well-rounded and knowledgeable doctor who felt we needed that piece of information, the cause of my gastroparesis, because it was vital to my care, I started doing some of my own research on different things I hadn’t been tested for that could cause have caused it. With the help of google and great friends I’ve met in the blogging community (Hi Catherine!), I decided to ask my family doctor for a referral to a geneticist.
Luckily for me, the IWK Hospital in Halifax has a genetics clinic with many very specialized doctors, including one who specializes in the diagnosis I was pursuing. When the hospital received my referral, they called and asked for a full run down of what was going on and a family history. Then, they were able to schedule me an appointment with a doctor best suited to my needs. Because of my ongoing weight loss and the fact I was getting progressively worse, what is typically a 1-2 year wait time for an appointment turned into a 4 month wait.
Yesterday, we drove up to Halifax and I had my appointment with Dr. Vandersteen. He warned me going into the appointment that only about 10% of the time do first appointments end with a diagnosis so to not get my hopes up to high. Then, he did a review of my family history and a fairly extensive physical exam of both mine and my moms joints. He also had the both of us perform flexibility testing. Finally, the appointment ended with success! I got 2 new diagnosis’s and a very likely third that comes along with them which would explain my allergy issues that i’ll talk about once we confirm.
First was the main condition I was looking into and the one in which Dr.V specializes, Ehlers-Danlos Syndrome Type 3! EDS is a very complicated condition that I could write tons about (and most likely will at some point on this blog) but for now I’ll keep it short and sweet. Basically, EDS is a rare connective tissue disorder where your body has a defect in producing collagen. Collagen is the glue that holds your whole body together. So, when you have EDS, it’s like your hold body is being held together with crappy craft glue when it’s supposed to be held together with super glue.
No two EDS patients are alike but one of the primary signs is joint issues, primarily joint hyper mobility. While joint hyper mobility alone is fairly common, EDS is not. Because collagen is found in your entire body, it can manifest itself basically in any system, creating a wide range of symptoms making it very tricky to diagnose. For me, it affects lots of things! Since 70% of your digest tract is made of collagen, it most likely caused my gastroparesis or, at the very least, contributed to it. Also, it causes me hyper mobility in my joints (which means they do weird things!), plenty of joint pain, and fairly stretchy skin among other things. It also is the culprit for little things i’ve dealt with my whole life like flat feet, headaches, and frequent soft tissue injuries.
Despite the fact Dr.V is running some blood work to rule out an uber rare genetic mitochondrial disorder, he felt confident in his testing to give me an Ehlers-Danlos diagnosis!
The other diagnosis I received is something also caused by my faulty collagen, Postural Orthostatic Tachycardia Syndrome (POTS). Simply put, when my posture is orthostatic (when I’m upright), I get tachycardia (my heart beats really fast). This happens because of an abnormality in the collagen of my blood vessels. When I stand up, my heart has to work much harder to pump blood up to my brain because my vessels are extra stretchy so the blood pools in my legs. Tachycardia is normal in certain situations like when you’re exercising but, for people with POTS, it happens when it shouldn’t. For example, I can hit my target cardio heart rate just by brushing my teeth!
In my case, this causes my heart to race when I’m standing up which sometimes happens immediately and sometimes my heart rate just gets faster and faster the longer I’m standing. That makes it hard for me to stay upright for long periods of time. It also causes me fatigue, dizziness, weakness, and fainting/blacking out. We believe that this may have been going on even before my gastric issues started. Much to Dr. V’s pleasure, one of the first lines of treatment he recommends is IV fluids to increase your blood volume. So, without knowing I have POTS, we’ve been treating it the past 6 weeks or so by running my IV saline overnight. Awesome!
Unfortunately, there is no magical pill they can give me to cure it and make all my health problems go away. Ehlers-Danlos Syndrome is a chronic illness and so are it’s co-morbities (in my case, the gastroparesis and POTS). But, now that we know what we’re dealing with, he is encouraging my doctors at home to be much more aggressive with my care to help assure that things won’t progress and to help manage the symptoms I have now so I can get back to some sort of new “normal”. The goal is to maximize my quality of life so that I won’t just live with EDS, but that I will thrive with it!