Finally ... answered questions!

As many of you know, Evan was diagnosed with a genetic disorder a week after he was born. The disorder was detected during the routine state screening that is done for all new babies, after the baby is delivered. The disorder is called Medium Chain acyl CoA Dehydrogenase, also known as, MCAD. He is unable to absorb and use medium fatty acids. In a normal person, you would eat and burn the energy by using your sugar and then your fats. Since he is unable to use some of these fats, he will become very sick if he fasts for too long, expends too much energy without proper amounts of fluids and food, or eats foods that are high in fat. Therefore, we have to make sure that he is staying hydrated and eating proper amounts of high quality foods. Otherwise, his blood sugar can drop and he can become very, very sick.

For now, his treatment is simply to make sure he is eating every 3-4 hours. If he were to become sick and have vomiting, diarrhea, or not eating - we would then have to take him to the ER to get an IV and be started on IV fluids. We will continue to have him treated throughout his life, if these symptoms appear. We will continue to wake him up every 3-4 hours throughout the night until he is 6 months - then we will meet with the dietitian to discuss further plans. No sleeping through the night for some time! He has to take Carnitine twice a day, which we think may be the cause of the upset tummy. This medication takes all the byproducts that he is unable to use and excretes it through the urine!

As he gets older, he will be able to take in Pedialyte, Gatorade, and Popsicles as a source of sugar when he is sick. He will have to eat a diet that is high carb and low-fat. He will have to eat lean meats and make sure to get plenty of food throughout the day. He will be required to eat 3 meals a day with a snack in between each meal and before bed. Jason and I are going to have to make adjustments to our eating habits, too. We will not be eating things he cannot have in front of him.

One of the most important factors to me was what this would mean for Evan when he had children. Since it is a recessive trait disorder, Evan's children will be carriers. Jason and I were both carriers of this disorder, which gave Evan a 25% chance of developing it. If we were to have any more children (which will not be happening), they would have a 25% chance of having the disorder as well. Evan will continue to have appoinments with the Genetics Dr., a nutritionist, and genetics counselor every 3-6 months. At his 6 month appointment, we are going to allow more testing to be done to see what mutations his genes have. Knowing the mutations can sometimes determine the severity of the sickness. The Dr. assures us that diagnosis is the first step and treatment compliance is the next. This puts it into perspective when I think of the sickle cell kids we treat - some are non-compliant and you see them all the time. However, others are compliant with their care and are hardly ever admitted.

We are blessed to have a beautiful baby boy who is still healthy! The dr is very optimistic about his diagnosis and assures us that this is the best type of genetic malabsorption disorder to have, if any. Eating is no longer an issue for this lil' man - he now weighs over 8lbs. YEA!

Evan, Jason and I are still in the adjustment period, but we are working as a team to get things done! Jason has been very helpful and gives mommy breaks to sleep or just relax. He is very attentive to Evan's needs and has little tricks up his sleeve to calm and soothe him. He was so proud the other day because Evan was fussing so he packed him in his car seat, put him on top of the dryer, and turned the fluff cycle on. Evan was asleep within seconds! I always joked about my luck and how we would have a colicky baby - and that has become a reality. Evan loves to fight sleep or naps, and does great during the day, but everything turns upside down around 8:00 at night. He stays up for hours, screaming without being able to be consoled. Jason and I take turns in tackling the shrilling scream and we do get through each night. I have been thinking about Jason all morning because he went to work on 4 hours of non-productive sleep today! What a daddy!!!!

I will post some more pictures in the next couple of days! Mommy is obsessed with taking pictures of all the cute things he does - trying to get all those little moments captured! He is growing soooo fast!!!!