Question Mark Disease

Living in the grey area of the medical world can be really frustrating. 

I feel like I've been trapped in this grey area of health since I first got sick. 

Sometimes it's that I have a clear diagnosis but, for whatever reason, I don't respond to the treatment like I should. Or maybe it's that I have a symptom that I *shouldn't* have, or that I don't have a symptom that I *should* have. 

What's been coming to the surface lately is that my symptoms look like a certain disease and I respond shockingly well to the treatment, but the test results come back negative. 

The swelling disorder I have is one of those. 

My tentative diagnosis has always been some sort of Hereditary Angioedema (HAE)... but some of my symptoms were a little off. A little outside the box. So we did some testing. I am negative for all of the currently known genetic mutations for HAE 1 and HAE 2. There is a type called HAE 3, but the genetic mutations are much less known and cannot currently be tested. 

So my current diagnosis is: Idiopathic Angioedema. It is also well documented that I respond well to the medication that treats HAE, so it is possible that I have HAE 3, and if a test becomes available for that diagnosis, I'll be tested for that. 

The running theory, though, is that somewhere in my Complement System, something is wrong, but we don't have the technology or access to figure out exactly where my system is malfunctioning, and since the medication works wonders, we're now sticking with that. Treatment for a question mark disease. 

Then we have my eyes. 

A long history of a diagnosis of rare early-onset Age-Related Macular Degeneration, then changed to Malattia Leventinese, due to my age. In other words: another grey area. 

Too young to have one, and a negative genetic test result for the other (which we just found out). 

So, even though the genetic test is negative, my current diagnosis is still Malattia Leventinese. The thought is kind of the same: I don't have any of the known mutations that cause this disease, so it's possible that I have a mutation not identified as of yet and cannot be tested. 

So you won't find me on any inherited retinal disease list, because they cannot add me with a negative genetic test result. 

So I have to settle in and get comfortable in this weird grey area. 

At least for the former, I have a medication that works and a physician willing to treat me with that medication - not because we've narrowed down the true diagnosis, but because the medication has produced obvious and drastic benefits. 

For the latter, nothing really changes. So unless it's some other random disease that they haven't thought of, I just continue going on my merry way with a half-diagnosis. A question mark diagnosis. 

Question Mark Disease