Being in the gray zone

Posted March 26, 2021

Ximena stands in a scenic area wearing a striped shirt and sunglasses

It has been quite a long road. I’ve been in “observation” for over a year.  I’ve been genetically tested twice because my mutations are uncertain, but my physical exams and family history (quite different mutations) are positive for Ehlers-Danlos syndrome (EDS).

Today I had my check-up, yet another genetic scan because I’m quite peculiar (this applies to almost every other part of my life). When my results came last year and I saw they were related to EDS (not knowing the part of uncertain significance) I was quite relieved because finally, all my symptoms would have a cause, not my mind or my clumsiness, but a medical reason. Now I am again in this gray zone, where I feel guilty about my joint pain, my migraines, my “spontaneous” bruises.

The road has been long, and it will continue to be, but I have to be grateful my geneticist is looking for the answers right? She has not given up on my case, she defies my country’s health system to have all the tests done. We’ll see in a couple of months if everything is just coincidence or simply I’m the case that will remind us Mendel Law can (and will) amaze us.

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