Living With a Rare Disease

This past week the National Organization for Rare Disorders has made it official that Median Arcuate Ligament Syndrome, the disorder I was diagnosed with at 16, is considered a “rare disorder”.

Since it’s rare, let me give you the brief rundown of what it is, if you enjoy science (if you don’t, just skip to the next paragraph). Due to mostly unknown causes, a portion of the celiac artery is constricted by a ligament that has wrapped itself around the artery. The artery is the major source of blood flow from the heart to the stomach, and the constriction causes an increase in velocity. My cardiologist explained this as squeezing a water hose; the water will come out much faster if it’s being constricted. Because it’s a rare disorder, long term affects are unknown. However, it does cause stomach pain, digestive issues, nausea, and weight loss.

Before my surgery my diet consisted of chicken, rice, potatoes, and Rice Chex. It took years after my surgery for me to not be afraid of going out to eat anymore. Some food made me so sick before and I still won’t eat them, just in case they can mess things up.

It took until the past few weeks to really understand what it means to have a rare disorder. Obviously, it was always rare. The only difference now is that there may (hopefully) be a push for more research and education on it. But regardless of the recognition or “formal” status of what my disorder is classified as, I’ve gotten very used to the dozens of unknowns.

For someone with a chronic illness, if you start to have a flare up, or something doesn’t seem to be going as well as it’s supposed to be, you most likely have a doctor who has at least a couple of options for you. With a rare condition, there’s no previous research or case that can be used as a model. There aren’t medications who have gone through their testing and clinical trials. Nobody has researched the effects of this or that, you’re facing a black hole.

a few weeks ago I received a letter about the first clinical trial being conducted for my disorder. That was not something I ever expected, and it felt kind of funny to me to read the information. There’s only a fifty percent success rate, yet I hadn’t had any of the issues everyone else had experienced in a year or so.

Then a week later, everything changed. Suddenly I started getting sick if I ate a regular-sized meal. Is this coming back? Is it even this condition?

So what happens after surgery? If it doesn’t work, they may try again, or try to put a stent in. Three years ago I went in to have the stenosis, and they couldn’t do it. My velocity was worse than it was before surgery, but it was completely normal when they went in.

Thankfully, the doctors were right and it resolved itself over some time. Now, if it is causing problems again, there is absolutely no next step. It’s not known how the artery can essentially release itself, or correct the problem on it’s own, and there’s not a way to prevent it from happening. Anything from here on out is a shot in the dark.

Now we have hope. It’s still going to be a shot in the dark. If problems arise again, there won’t be a clear solution. At least not for a couple of years. Now with the formal recognition, which is a small and silly thing to be excited about, a few years from now there may be some guidance. Everyone may not feel like a lab rat anymore, and there’s a chance for treatment protocols, and actual treatment, to come out.

So now, we wait. And educate. I’m planning to go to the Rare Disease Lobby Day on Capital Hill at the end of February, which I didn’t even know it was a thing. As it is with any chronic illness, there will always be a constant push trying to find a balance between taking care of yourself and having a life and identity that is not defined by your illness. The next step is to figure out how to advocate for your rare disease, and manage the other two.

For more information on MALS, or supporting the National Organization for Rare Disorders, look at their website