Genetics Results Part 2: Hello Loeys-Dietz Syndrome

There. I’ve finally said it. I’m beginning to face the reality of my new diagnosis and accept it. I never expected this. Loeys-Dietz Syndrome is similar to Marfans Syndrome and Vascular Type Ehlers-Danlos Syndrome, only it’s worse. With Marfans and vEDS you operate on an aortic aneurysm when it gets to the size of 5cm. But with Loeys-Dietz patients you operate on the aneurysm when it gets to 4cm. This is because the aneurysms with this syndrome are much less stable than with the other two syndromes.

I looked up the life expectancy of Loeys-Dietz Syndrome and with no medical treatment, it is 27 years old.

I’m 26.

Luckily though I have had treatment since I was 22 and my geneticist even said that the meds I’m on are probably saving my heart and the reason I’m not worse.

So yeah, I’ve been in a shock when my genetics results showed an abnormal gene that is linked with Loeys-Dietz Syndrome. This is a connective tissue disease that is very new (having only first been discovered in 2005) and is not very well known. There aren’t many patients in the world with this disease and the type that I have is apparently (as I’ve been told by others with it) seen in only 2% of Loeys-Dietz Syndrome (LDS) patients. So I’m RARE. Like super rare. It sucks to be rare.

Now I need scans. Specifically an electrocardiogram to measure my aorta as well as an MRA or a CTA from head to knee to check for aneurysms. Fun. Remember a long time ago I wrote this post saying that my nephrologist suspected a renal aneurysm? I guess now I have to take him seriously. The hard part though, because I moved to a new state, is going to be finding a new PCP, educating him about Loeys-Dietz Syndrome, and convincing him to order these tests and send me referrals to all the specialists I need.

So much FUN!

But I’m coping.


2 thoughts on “Genetics Results Part 2: Hello Loeys-Dietz Syndrome

    • Thank you! I hadn’t quite realized how rare rare could get. Although I am still more fortunate than some 🙂

      I hope you can get some answers too. It’s maddening not knowing what’s going on.

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