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.

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Genetics Results Part 1: Goodbye Ehlers-Danlos Syndrome

Since my last blog-post I have been unsure about how to write the next couple of blogs. I eventually decided to do a two-part-results reveal. This is partially because I believe that saying “goodbye” to EDS should be a post in and of itself. But I am also not quite ready to share the results of my genetic testing for several reasons (one being that I would like to remain anonymous still and right now I’m sure that my family is currently googling the abnormal gene and the condition it’s associated with). I will share one thing though; I do not have Ehlers Danlos Syndrome.

I started this blog as a method of detailing my journey with EDS and also to raise awareness. While this blog is only a little over a year long, I have known about and suspected EDS as my diagnosis for over 5 years. I have researched it, I have joined support groups for it, and I have advocated for it. Ehlers-Danlos Syndrome has always played such an integral character in the story behind my health.

For many years I just assumed that EDS was my answer and didn’t bother looking any farther or getting a formal diagnosis. There is no treatment, there is no cure, and I just didn’t see the point in going through the hoops. After a while though, as I started to get worse and to become more and more sick I began to realize how beneficial a diagnosis could be. Once I started developing the co-morbid illnesses that go along with EDS (such as POTS, Gastroparesis, MCAD,…etc.), I realized the importance of having a diagnosis… It makes doctors take you seriously. With a diagnosis of EDS doctors know what co-morbid diagnoses to consider. With an EDS diagnosis maybe I would have had a Tilt Table Test to check for my POTS right at the start of my search, instead of after countless other tests. Above all else though, a diagnosis would give me credence. I wouldn’t be the hysterical female who is clearly a hypochondriac. I would be the young patient with a genetic disease.

So I started down the road towards getting a diagnosis of EDS. After the first appointment with my geneticist, when I was told that I wasn’t going to walk out of that appointment with a diagnosis of Hypermobile Type EDS, I realized that the diagnostic process was going to take longer than I thought. Next I was confronted with the idea that instead of Hypermobile Type, I might actually be diagnosed with Classic Type or possibly even the scarier Vascular Type. Always though, there was the underlying belief that I would eventually be diagnosed with EDS. Sure my geneticist listed several other conditions as a differential diagnosis, but EDS was always the assumption.

The majority of my blog posts had tags of “Ehlers-Danlos Syndrome”, “EDS”, “EDS woes”,…etc.

But it’s not EDS.

I do not have Ehlers-Danlos Syndrome.

So this is my “Goodbye”. I have decided to keep the earlier blog posts the same. I will not remove or change the tags. Nor will I delete the ones where I have talked about having EDS. But from here forward I will start to talk about my new diagnosis. If any of my readers have a question concerning EDS, however, or just need someone to talk to who understands the disease and the process of coming to a diagnosis, please pleases feel free to comment and/or ask me anything.

Goodbye Ehlers-Danlos Syndrome.

Genetic Testing: Part 2

The genetic results are in and…

I have no idea what to make of it. At least not yet.

I received an email on Monday night telling me that my online health record had been updated. My immediate response was intense panic. What if the test hadn’t shown anything? What if it had? I signed on and looked at the results and they said….

Results pic

….Nothing. They didn’t actually post my results.

Now, this all happened while I was traveling back home from visiting family. So I got these results late at night in my hotel room and the next day I was going to catch a bus at the airport to take me back home.

So while waiting for the bus at the airport the next day, I called the pathology lab to get a copy of my original report. The woman did not want to give me my results and could not be swayed despite the fact that my online record said to specifically call the lab to get a copy of the original report. She said I had to contact my genetic counselor.

I finally got my genetic counselor on the line an hour or two later while I was on the bus. The genetic counselor didn’t want to give me my results either (Hint.. by now I know that if they don’t want to give you the results it means that there’s probably something they’re not ready to tell you yet). She did admit that it showed something though and I did finally manage to coerce her into telling me which gene was affected. She also told me that she had planned on specifically bringing up my case in a meeting the next day and that my geneticist would let me know what all is going on next week.

I’m so close to finally having an answer…