Trials of Life

    So as some of you may know, little Liam has been frequenting the doctors office undergoing testing. It's something that has not been easy for me to talk about, as we do not have any definitive answers and we are still waiting on the results of the newest batch of testing.
   Liam's newborn screening done by the state came back with his levels slightly off indicating a rare genetic metabolic disorder known as Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD). The cut off point for a normal level for this screening is .8 and Liam's came back .81. VLCAD is a rare genetic disorder of fatty acid metabolism, when the enzyme needed to break down very long chain fatty acids is missing or not working properly. This keeps the body from metabolizing certain fats into energy, which could cause problems if Liam ever went too long without eating. Our bodies break down stored body fat and glucose for energy, and VLCAD keeps the body from breaking down the fat properly, so the body would only be able to rely on glucose for energy when going without food. Glucose is a limited energy source, and when the body runs out of it, it unsuccessfully tries to break down fat for energy, which can lead to low blood sugar (hypoglycemia) and a build up of harmful substances in the blood stream. VLCAD is genetically inherited, which would mean that both Javier and I would have to be carriers of this gene in order for Liam to be affected. Early symptoms are signs of low blood sugar, irritability, lethargy and poor muscle tone.
   The good news is that after Liam's newborn screen came back, the doctors ordered a blood and urine test. Those with VLCAD have abnormal amounts of ketones in their urine, and Liam's urine test came back with completely normal levels. However, his blood test again came back with slightly abnormal levels. We went to go see a geneticist last week who went over these tests results with us, checked Liam out for any show of symptoms and discussed the disorder with us in further detail (we were not even told the name of the disorder until this doctors visit). Liam shows none of the signs - he is very alert, has great muscle tone and reflexes and is a very calm, happy baby. Because his levels are so slightly off there are several possibilities. He could not have the disorder at all, which is what we are obviously hoping for, or he could be a carrier of the disorder, which would mean he would not be affected by the disorder. If he is a carrier, that could mean Javi or myself are carriers, or it could mean we both are and he would be lucky enough to only be a carrier as well. If that is the case, Javi and I would then need to do some genetic testing. So after the visit with the geneticist they decided to do two more tests that will definitively tell us whether or not Liam has VLCAD. The first test checks the levels of Liam's enzymes, the second looks specifically at the affected gene to see if he has the markers for VLCAD. One test will take a week, the other will take about a month. I took Liam this past Monday to get blood drawn and unfortunately they were unable to get enough to send in for both of the tests, so I take him back again this upcoming Monday to get the rest of the blood work to send in for the other test. As for now we have been instructed to not let him go more than 4 hours without feeding, other than that at this point there is nothing more we would do to manage the disorder, but later in life we may have to begin a treatment regimen which will be discussed with us if Liam is found to have the disorder. So hopefully in the next month or so we will have some real answers, and we are hoping for the best. As parents it is really hard to have to wait and wonder if there is something wrong with your child. He is such a sweet, helpless little baby and seeing him have to go through multiple blood drawings has been difficult. We will do our best to share what we find out in the upcoming weeks, please keep us in your prayers and send some good thoughts our way.