MCADD Explained

As promised, here is a little more information about LB's medical condition, MCADD.

MCADD is a fatty acid oxidation disorder found in about 1 in 15,000 babies. Fatty acid oxidation is the process your body uses to turn fats into energy and fatty acid oxidation disorders occur when certain enzymes that break down these fats into energy are either missing or broken. In MCADD, the Medium Chain Acyl-CoA Dehydrogenase enzyme is affected and individuals with MCADD are unable to break down medium chain fats from foods they eat and are also unable to break down medium chain fats stored as body fat. The process looks something like this...

So, if the body can't use the fats, what does it do with them? Basically, it treats them as toxins. Our bodies have substances called carnitines that serve to get rid of waste products.  LB's body is going to end up making a lot of carnitines because not only will they have to get rid of all the "normal" toxins that our bodies need to get rid of, they also have to get rid of the fats that he can't metabolize into energy that his body "thinks" are toxins. The doctors will monitor his carnitine levels periodically and may need to supplement his carnitine levels if he's not making enough.

MCADD can cause bouts of illness called Metabolic Crisis which can include sleepiness, irritability and poor appetite. These can be followed by fever, diarrhea, vomiting and hypoglycemia. Anytime that he is losing nutrients and unable to replenish them, he is in trouble and needs to go to the hospital for a glucose IV, which is, in essence, readily accessible energy for his body to sustain metabolism. If he is not treated quickly for metabolic crisis, he can have breathing problems, seizures and possibly even slip into a coma or die (scary!). Thankfully, metabolic crisis can be avoided simply by not allowing him to fast OR if he is fasting (because he can't keep food down due to illness, etc), we have a can of special formula to feed him. It is called polycose and is basically just pedialyte with HUGE amounts of sugar that his body can immediately use for energy, thus maintaining his metabolism.