Mr. Bill Shakespeare was on to something here…
I wanted a name to go with the pain I felt every day. I wanted a diagnosis and a prognosis. Just give it to me so I can move on knowing what to expect. Well, months went by and we finally heard from Dr N.B. but it wasn’t what we had expected. My muscle biopsy results came back “Inconclusive”. He explained that this didn’t mean I didn’t have a mitochondrial issue, it meant that what they were searching for with the tests available for this sort of disorder came back with nothing. There were definitely mutations or subtle differences in my tissue than from that of a person without muscular issues…but nothing they understood or could diagnose. Later on down the line of testing Dr. H out of Dallas, Texas said, “I think we’re looking at the wrong part of the elephant.” Yeah, that didn’t help either Dr. H, thanks. So that’s it, they had nothing to tell me. No name to give the culprit robbing me of my childhood.
This bothered me for a while, years actually. I really wanted to know what was causing my body to fail me. I often talked to my mom about how much it bothered me not knowing what I had. But I stopped longing for a diagnosis after she said something so profound a few years later.
She asked, “Lace, what would change if you got a diagnosis? If you knew the name to go with your pain, what would change in your every day life?” I stared at her thinking intently, wanting to answer her in some amazingly clever way. But all I could come up with happened to be the correct answer and not even clever, “Nothing”. She replied with a knowing nod and smirk, “You’re right Lace, nothing would change.” After thinking about this for a little while I told my mom “I believe I may have created a brand new disorder. Some sort of weird fusion of genetic disorders… Do you think they would give me credit and name the disease after me? Maybe Lacey-Disorder or LKL-mutation-5000, maybe they’d use my name in conjunction with the scientists’ name that defines the mutation!?!” This is how I dealt with giving up on a diagnosis, humor. Mom and I shared a laugh and she gave me her “eyes” as I nonchalantly crack jokes about an incurable muscle disease being named after moi. I know part of her loved my odd way of spinning dark things into laughs but another part of her was breaking with the reality of where my life was heading.
My mom was right though as she always is (I’ll admit it). I never got a diagnosis before my re-deal and I never plan on pursuing one. Nothing will change.
“That which we call a muscle disorder by any other name would suck as much.” -LaceyKH