What is that?! Three Words I Don't Want to Hear from My Doctor

Carnitine Uptake Defect. Do you know what that is? Of course you don't. Most doctors don't even know, which is a bit disconcerting. As proof, I offer up a visit to a physician's office where I had to update my recent medical history. The receptionist dutifully put my new forms in the chart, which the nurse then dutifully left in the plastic cubby screwed to the door of the little room they put me in, where I'm waiting in a paper dress that opens in the front and offers precious little comfort against the chill that seems to exist in that atmosphere (despite the commonality of people waiting in this room in only a paper dress). As I'm waiting, I hear the nurse practitioner slide my chart from the door. Clearly, she doesn't realize just how much sound permeates the hollow wooden barrier or she would have offered her "Carnitine Uptake Defect... What is that?" a bit quieter. It's not the fact she doesn't know what it is that disturbs me. It's the tone of utter confusion in her voice. Aren't doctors supposed to pretend they know what they're talking about even when they don't? At least tell me you've heard of it but don't know much about it. Then we'd be on the same page.

Once she entered the room, the doctor asked me several rapid-fire questions regarding this rare genetic metabolic disorder. (Although only 1 in 100,0001 are diagnosed, it's not very rare for someone to have it without realizing it - until they die. Such as a seemingly healthy athlete who dies of a heart attack on the field. The poor kid had an enlarged heart. Who knew?) My answer to all of the good doctor's questions? "I don't know." "I don't know." "I don't know." All I knew was that my twin sister, Kira, had been diagnosed and I had just received my test confirming that I also had the disorder (not surprising since we are identical). However, our geneticist had cautioned us that it was possible for Kira to have it and for me not to have it, depending on how the egg split. Although it's not a good disorder to have, I was relieved when the test confirmed a carnitine deficiency. Being identical is our identity. We are the same. We carry the same DNA. We carry the same genetics. If she were to have it, and I did not, my whole sense of being as I know it would change. Who am I if I am not her genetic copy? Of course, I am my own person, but that distinction is something only a twin could understand.

Where was I? Oh, right. The confused doctor. After I completed my series of I-don't-knows, she muttered, seemingly to herself, "Well, I'm going to have to read up on that." Yeah, you do that. You're the doctor.

So, now you're asking yourself, What is it? Good question. Carnitine is a natural substance that your body uses to create strong muscles and bones in addition to other benefits for the body, like producing energy. (This is where I'd like to explain that my lethargy in life must be caused by this disorder... But it isn't. I'm just lazy and really bad at sports - which actually might have saved my life, but we'll get to that later). You can buy carnitine at GNC, although, not in the concentration that I will need to take. Body builders take it to build muscle mass. So, what happens when your body doesn't synthesize carnitine properly, resulting in a deficiency? Also, a good question. Let's make a list shall we?

* Cardiomyopathy (heart muscle disease) or an enlarged heart. This condition keeps your heart from working the way it's supposed to and can lead to heart attack, heart failure, and sudden death. (This is the part where my lethargy and natural klutziness may have saved my life.)

* Hypoglycemia. If the body can't get the carnitine it needs, it starts to use glucose instead. This is dangerous because it could lead to a diabetic coma. It is especially dangerous for an infant, who can't tell you they are experiencing these symptoms.

* Developmental delays or problems with your central nervous system

* Weakened muscles or uncontrolled muscle movement. That might come in handy on the dance floor, but I'm thinking probably not anywhere else.