I‘ve been waiting for the results of my genetic test forever and I finally got them earlier this week. The test checks the FBN1 gene for any mutations that would cause Marfan Syndrome. Like I’ve said before the test doesn’t completely rule out MFS. The NMF website states that use of the genetic test is limited and that the test alone can not tell you if you do or do not have Marfan Syndrome.
The test has been of major importance to me. Mostly because I’ve spent so many years now wondering what is wrong with my body and why I am in so much pain. I know generally why but the significance of finally having an answer is huge to me.
That being said, the results were negative. It sort of felt like a punch in the stomach. In a way I always felt in my heart that the results would be negative. Mostly because I just couldn’t envision finally having the answer I’ve waited so long for. Most people would assume a negative result would be a good thing. But because whether it is MFS or not, I have one of these disorders and I’d prefer it be one of the well known ones instead of one that there is no info on.
They basically said that they don’t think that it is Marfan Syndrome and that they think I have a variant of it, a new or undiscovered connective tissue disorder. But they said it doesn’t make a difference to my treatment at the moment. An echocardiogram is still necessary every 6-12 months to monitor the progression of aortic dilation and I should still see my doctor to try to find medications that work for the pain. They also said to come back to genetics in a few years in case they have made more progress in the discovery and understanding of these disorders because maybe by then they will have a better idea of what this is.
I posted about how I officially meet the criteria of MFS without the test and so we will be calling genetics later today to ask them about that and why they would still rule it out. It does say that they will not diagnose Marfan Syndrome even if you meet the criteria if you show signs of another disorder. I’m assuming this is why they don’t want to stick me with an MFS diagnosis. Some of my symptoms follow along the line of what is seen in Marfan Syndrome while other symptoms differ. This makes them wonder if the cause is something else. It’s hard because you are told you likely have something, you research for hours and learn everything there is to know so you can semi predict how your life will be affected, and then your told you don’t have it and you have to start from scratch.
At first I had contemplated locking myself in my room for a few days and having a good bout of depression after getting the results, but when I woke up the day after I felt okay again. I just needed to remind myself that this won’t make much of a difference in the grander scheme of things. I did want to finally know for sure, but maybe one day in the near future I will.
“Worry compounds the futility of being trapped on a dead-end street. Thinking opens new avenues.” -Cullen Hightower