Carnitine

Yeah, I didn't know what it was either. It's a vitamin. Here is my story about carnitine.

When you have a baby (after the year 1996), they do a routine screening, formerly called PKU, now called Newborn Screening test. Before 1996, it was the responsibility of the doctors and hospitals to do these tests and they didn't always get done. So the state took over these tests, making it a requirement for every baby born in a hospital, your tax dollars used to run the tests. So when Reed was born, they did this test, a heel stick and sent it off to the state. Right before his 2 week appointment, the results were sent to my pediatrician, telling him that one of the results came back abnormal. The grouping of diseases that it tested abnormal for has something to do with the mother so both Reed and I went and got blood and urine tests. About a week later, those also came back abnormal (low for both of us) and we were referred to specialists down at Primary Children's to figure out what was going on.

We tested low for a vitamin called Carnitine. It is primarly found in meats but can be found in many other things as well. There was a few reasons why we both tested low for this vitamin. I'm a vegetarian and it could have well been because I wasn't consuming enough of the vitamin, and because Reed gets all of his nutrition from me, he would also not be getting enough. The other reason he would be low is because I had a disease called Primary Carnitine Deficiency (also called Carnitine Transporter Deficiency). This means that I was consuming enough of the vitamin but my cells weren't knowing what to do with it and I was just peeing it out, therefore he would also not get it. The third reason he would be low is because he also had the disease.

Carnitine is important because it is used in the cells to convert fat and amino acids into energy. When you don't use or get enough carnitine, the muscles are affected, primarily the cardiac muscle. In other words, the heart is affected first. The first symptom is sudden death, other symptoms include cardiac events, mostly an enlarged heart, and the liver and kidneys may sustain damage. I was told that 1 in 40,000 people have this disease, most of them not knowing they even have it (as there are no physical manisfestation). I was also told that 9 in 10 people that test low for carnitine don't actually have the disease, they have something else wrong, like low consumption.

So after consulting with the doctors, we were both put on a carnitine supplement for 2 weeks. Reed is to take 5 ML a day and I was to take 3 grams (3000 ML). If I had the disease but he didn't then my tests would still be low but his would be normal. If he also had the disease, then we would both be low. If it was because I was a vegetarian and not consuming enough, then we would both be extremely high.

And the results are.... I have the disease but luckily Reed does not. His tests came back with him having way too high and we reduced his supplement to 2 ML a day and may go down to 1 ML if it is still too much. Again, because he doesn't get nutrition other than from me and my body is disposing of it, he will need it. When he gets formula and food, he will no longer need to take the supplement because he will be getting it from that. I, however, will have to take the supplement the rest of my life.

The supplement is in the form of 9 pills a day that are big and smell like fish. Fogg and I have named the pills "fishies". Hopefully I will not need to take that much forever, but I will have to take some the rest of my life. To give you perspective, normal range in the body is 34-68 ML, my test after taking 3000 ML a day was 24 ML, the initial test I had 7 ML. So in order for my body to retain just 24, I have to take 3000. The doctors told me that I have to stay above 20 to stay out of the danger zone. I go back at the beggining of August to have further testing on my heart, liver and kidneys to make sure that there isn't any damage so far.

Being a vegetarian had NOTHING to do with this disease for me. I've probably had it my whole life. If I hadn't have had Reed, they wouldn't have found this unless I had a health problem (which could have been either a heart problem or death!). So here is to my little boy who could have saved my life! Here is him smiling for me this morning:

So that's the story for the day, more another time...