What is VLCADD?

As some of you may or may not know, Konrad has a condition called VLCADD, which stands for Very Long Chain Acyl CoA Dehydrogenase Deficiency. It is an autosomal recessive disorder, a result of Austin and I both having a recessive gene, and Konrad getting those genes from each of us. What are the odds, right? It happens to 1 in 40,000 to 120,000 people. Because of the PKU blood test taken when he was born, this deficiency was quickly detected. I have to admit, at the beginning, it was a huge shock! 6 days after Konrad was born, I took him to the pediatrician for a routine check up. He'd had jaundice and I was taking him back to make sure his bilirubin count was still low enough. However, Dr. Later (Konrad's pediatrician) met with us the second we entered and delivered the news that Konrad may have VLCADD, a condition he had never even heard of before. Thus, he didn't have much information other then what Primary Children's had sent down when they sent the results. All he could do was tell me was that Konrad had the inability to break down long chains and as a result, we had to when he ate very carefully. The situation was so serious that Primary Children's in Salt Lake already had an appointment set for us, for the following morning. Until then, our instructions were to make sure Konrad ate every 2 hours and that he didn't get a fever. If he wouldn't eat or acquired a fever, we were to take him to the hospital immediately where they would administer a glucose drip. Needless to say, I didn't expect that a week after having him we'd be taking Konrad to Primary Children's to meet with a metabolic specialist.  But, 7 days after Konrad was born, we were there, talking with the Dr. Longo and two other people: the dietitian and the geneticist. It was reassuring to hear all the information and to start to understand what VLCADD in our baby meant. The scary part was that VLCADD can result in SIDS for some babies. This is dependent on the severity of symptoms, which varie from the severe form which usually occurs in infancy, to milder forms that are manifest later in life as muscle fatigue when exercising. At this point there was no way to know which form of VLCADD he had. Another PKU blood test was taken, to ensure the accuracy of the first, and within a week we knew that it was for sure: Konrad had VLCADD. Now to determine which type he had, Dr. Longo took a skin biopsy (yes, they took a little piece of our baby's skin from right above him cute little bum). The results, however, would take 2-3 months to come back, so until then, we learned as much as we could about VLCADD and the possibilities.  VLCADD is one of the better enzyme deficiencies a child can have. To explain: we eat, and then our body is technically fasting until our next meal. During that time our body uses first, the short chain fatty acids, then the medium chain fatty acids, and finally the long chain fatty acids. Enzymes are needed to metabolise those fatty acids. The problem is that Konrad does not possess the necessary enzyme for his long chain fatty acids. So if Konrad goes long enough without food, and his body tries to use those long chain fatty acids, it will try but the trying will harm his body. When his body finds it cannot complete the metabolism of fat, fat acid metabolites will accumulate and result in the inhibition of glucose and cause abnormal liver function. Tissues that are highly energy dependent, such as the heart and muscle, become energy deprived and impaired, which leads to cardiomyopathy (heart is inflamed and doesn't work as it should) and rhabdomyolysis (muscle breaks down and muscle fiber enters the blood stream).  Here's the cure: monitoring his diet. That's really all that can be done, since there isn't a way to replace the long chain fatty acid enzyme. So for the first few weeks I made sure he ate every 2-3 hours; I even set an alarm after every eating to make sure. That included through the night... so no, I didn't sleep more than 3 hours for those first few weeks, and I napped as much as I could throughout the day. I have to say, it made me appreciate getting my REM sleep, when I was able to sleep for longer periods through the night. As Konrad grew and gained weight, he was able to go longer between feedings (not that he necessarily did, since I was breastfeeding at the time). He was born 7 lbs 9 0z, but lost about a pound during the first week, which is natural. That's why he had to eat every 2-3 hours. But when he got to be just over 8 lbs, he could go 4 hours without eating, and then at 10 lbs he could go 5 hours, etc.  So in October his skin biopsy results came in, and it was good news! He has the milder form of VLCADD, which means the symptoms of his deficiency will show up when he's exercising, with weakness of the muscle. We were worried he wouldn't be able to play at sports, but as long as his heart stays healthy, he's fine to play any sport he wants. He'll just have to make sure he's drinking lots of Gatorade (not water) when he's playing so as to replenish his carbohydrates, electrolytes, and glucose. We are thrilled that he is going to be a healthy, normal little boy! Only his diet will be special. He cannot have meat, traditional oil, butter, cheese, whole mild, ice cream, peanut butter, nuts/seeds, luncheon meats, sausage, bacon, etc. Anything high in fat is a BIG NO! However, there are lots of things he can eat: foods high in carbohydrates like cereal, bread, pasta, crackers, tortillas, potatoes, etc; chicken, turkey, fish, shellfish; vegetables of any kind; fruits of any kind; and an oil called MCT (Medium Chain Triglyceride) oil. In essence, a heart healthy diet. We will be one healthy family, that's for sure! Which I don't mind at all.  It is his heart that will determine how he's doing, and establish what he can and cannot do. He's already had one visit to the cardiologist and he's in perfect health. Which is good! If he had cardiomyopathy already, there'd be a good chance he wouldn't make it through his first year. He will have to go to the cardiologist once a year for the rest of his life, to monitor his heart regularly.  At first this VLCADD caused me some serious anxiety. Austin and I were both pretty worried about him. But now that we have all the information and can see how healthy he is, we feel great about his situation. It could have been worse, much worse, but it's not. If he had to have this, he's got the mildest, best kind he could have, and for that I'm eternally grateful. So don't worry! I gave all the facts so that our family and friends can be educated about it, and what that means for Konrad's eating habits. I have no doubt I will be explaining this more many years to come... to his teachers, to his friends' parents, so basically I'm just practicing on all of you. :) But, to look at him, you'd never guess that he had VLCADD. He's growing normally, is long for his age, actually, and is as active as you could wish a baby to be. I'm starting to call him Mr. Curiosity. He wants to see it all, touch it all, and taste it all!