What is Loeys-Dietz Syndrome?

Something that I have faced, since being diagnosed with Loeys-Dietz Syndrome, is the feeling of isolation that comes with having a very rare disease. There are only 50 recorded cases of the type of Loeys-Dietz that I have. That’s a very small group when you consider the entire population. But then, the disease itself is fairly newly discovered so I am sure more will surface later. I feel bad hoping for that…

The feeling of isolation that goes with having such a rare disease is made worse by the fact that it is a very serious and life-threatening disease. You can go from being fine to being dead in a matter of minutes. It’s terrifying. Even more terrifying, however, is the fact that it’s rare to doctors as well. Most of my doctors have never met another patient with Loeys-Dietz. They don’t know how to treat it. They don’t know the complications of it. They don’t even have any literature on it and probably didn’t learn about it in Med School.

One thing that so many people take for granted is the fact that their doctors will know their diseases and know how to treat them.

For me, this is not the case and it could mean my life or my death.

So what is Loeys-Dietz Syndrome then?

Loeys-Dietz Syndrome is a vascular-type connective tissue disease. This means that the blood vessels are much weaker than normal peoples’ and are much more prone to aneurysms. With Loeys-Dietz Syndrome, it is almost a guarantee that you will develop an aneurysm at some point in your life.

For example, my grandfather has three aneurysms and my mother has two.

There are other disorders that also put you at greater risk for aneurysms: Marfans and Vascular Type Ehlers Danlos Syndrome. The catch, however, is that Loeys-Dietz can present with aneurysms in almost any artery, not just the aorta. Also, the aneurysms seen with Loeys-Dietz are much less stable than in Marfans or vEDS. This means that the aneurysms need to be monitored and treated much more aggressively, with surgery done on smaller aneurysms, than in similar vascular-type connective tissue diseases.

So what do you do? How do you not die?

Pretty much you just watch and wait. Maybe take a beta-blocker to keep your heart rate under control and your heart not too stressed. Or take  another drug that may or may not stop aneurysms (the clinical trials of that drug have not been as optimistic). You also do scans and echocardiograms to look for the aneurysms and hopefully stop them before they kill you.

Overall, the disease, in its big glorious picture form is pretty bleak. There’s a good chance that I will require surgeries. There’s a good chance that this will kill me. There’s a good chance that the people, family and friends, who have it will also be similarly affected.

Maybe I could deal with all that though and maybe I wouldn’t be so devastated if it wasn’t such a rare unknown disease and if it wasn’t such a fight to simply get the care that I need.

The Things That I Forget

Lately I have been dealing with a lot of stress and health issues. My symptoms have gotten worse, but it’s the type of worse that is more uncomfortable and miserable than life-threatening or scary. But the uncomfortable really sucks and the miserable is really… well.. miserable.

But I am living my life, or rather, struggling through my life and trying not to fall from the weight of everything. It’s hard. I think at times it might even be unbearable.

But what choice do I have?

None.

Every now and then, I get a glimpse of the big picture and I think of all the things that I have forgotten about myself in order to pretend that my life is a little more normal than it really is. It’s a coping mechanism. Or denial. I’m not sure which.

So what have I forgotten?

I forget that fainting is not normal. It is not a common daily occurrence for most people. That saying “When you fall down, you have to pick  yourself back up” probably didn’t mean it literally.

I have also forgotten about my spina bifida occulta.

SBO2

Spina bifida occulta of my S1

Is it strange to forget about something like this? I have pain from it on an almost daily basis, but the pain is so normal for me that I just ignore it, deal with it, and go on with my life.

What other choice do I have?

None.

I forget that the amount of exhaustion I have is not normal. Apparently others have the energy to come home after a hard day at work and are able to make supper. Sometimes when I think about that, I am genuinely amazed. I have gone to bed before without supper because I am just too exhausted to cook anything.

I forget that aneurysms are nightmares to everyone else when they are just a normal reality to me.

But, again, I ask: What choice do I have?

None.

Forgetting is not necessarily a bad thing. Because when I remember… when I think about everything I deal with.. when I look at the big picture…

I feel as if I will drown.