I called a few times a week past the expected four weeks of testing after my blood was drawn to see if the results were in yet. Finally, I got a “Yes, they are in.” There was a but though…. “But she has to call the lab and verify.”
So of course, that freaked me out. My geneticist was easily in her 90’s and so for her to have to call the lab to verify results was terrifying for me.
Of course, I spent the next four days with bated breath, trying to figure out what was wrong with my gene testing.
Finally, she called.
First, I’d like to remind everyone that I am a Zebracorn—part Zebra and part Unicorn. That is important to this story.
The geneticist told me that I have a “mutation” on my B4GALT7 gene. Normally, that would indicate a very rare type of Ehlers-Danlos syndrome (EDS). However, that’s not the type of “mutation” I have.
In fact, the lab would not call it a mutation because “there is not enough data (people) with the same type of variation to call it a mutation.”
Let me put that in some context. Less than 1 in a million people have a mutation on their B4GALT7. But me, the Zebracorn, have a different mutation that puts me in the pool of “We don’t even know what you have because it’s so rare.”
The only thing the laboratory could say was that it is “probably damaging and disease causing.”
Thanks, I think I noticed.
I still have my diagnosis of EDS, type 3, hypermobility type. But we don’t know if that’s really what I have because of the “variant” on my gene. They want to do a family study of our genetics because it’s so rare.
So yes, I am a Zebracorn, right down to my genes.
I am one in a billion. I am the only one of me in the world, and I just happen to have every rare disease ever.
That’s what Zebracorns do. That’s how we roll.
Go big or go home.