Finding Out

Last night during dinner, Husband's phone rang and he excused himself from the table to answer it. I was only half hearing Husband's half of the conversation because of the conversations already underway at the dinner table with my Mom, Husband's parents and our older son, "LM." I gathered that it was someone in the medical profession that had called, but I assumed it was just the hospital phoning us with their discharge survey since they warned us that we would get a call in the next few days. At the point that I heard Husband ask "will he be able to live a long, normal healthy life?" my heart started to race. Something was wrong. Something was very wrong. I started to have trouble catching my breath and even though everyone else at the table continued talking, the only thing I could hear was Husband continuing this phone conversation in the hallway outside our kitchen.

The phone call was from our pediatrician's office.  "LB's" newborn screening had come back abnormal for a metabolic disorder called MCADD (Medium Chain Acyl-CoA Dehydrogenase Deficiency). It is a recessive genetic disorder where the MCAD enzyme is either missing or not working properly. The job of this enzyme is to break down medium chain fats. Since the enzyme doesn't work, medium chain fats cannot be broken down and the affected person cannot derive any energy from those foods/fats. This is problematic because energy from fats keeps us going when our bodies run low on their main source of energy (glucose) on occassions when we don't eat for a stretch of time (like when we miss a meal or when we sleep). In a person with MCAD, once the glucose is used up, there is no energy reserve in the form of fat and a metabolic crisis can occur.

The pediatrician was calling to check on LB's well-being, to make sure that my milk had come in, that he was eating regularly and to instruct us that he has to eat every 2-3 hours or he could become very very sick. He told us to come to the office when they opened at 9 a.m. and he would go over more of the specifics with us.

Needless to say, we were panicking. We were keeping track of when he ate already (force of habit since they make you do it at the hospital), but we were even more intent on monitoring his feedings now that we knew this. All through the night, we set our alarms and woke him every 2 hours to make him eat.

The doctor's appointment confirmed that he was gaining weight since he had left the hospital and provided us with some additional information on what our next steps would be.  LB would need to come back on Monday for his standard first visit to the pediatrician and for a blood draw that would help them to confirm the diagnosis from the newborn screening. We were told that sometimes if a newborn screening (done with drops of dried blood) came back abnormal, the follow up test (done on liquid blood) would come back just fine, but since LB's test results were 30 times the normal level, it was unlikely that this was a fluke. They were expecting a confirmation of the diagnosis. We would also need to schedule an appointment with the metabolic specialists at Children's Hospital to get further information on what we should be doing. For the time being, our main job was to make sure that he ate at least every 2-3 hours and if he went longer than 4 hours without eating to take him to an emergency room to get an IV.

We were also advised that we would have to watch him very closely when he gets sick so that he doesn't run out of energy due to vomiting, lack of eating, etc. The doctor actually said that in a way, LB would be easier to treat than an average child because with an average child, doctors always have to weigh the benefits of sending them to the ER for fluids to rehydrate versus using a wait and see approach at home with popsicles and pedialyte. With LB, there would be no threshold. He would be sent for fluids immediately. No questions. No delays.

Although it was initially all very scary, we were reassured that this was a very treatable condition and that knowing he had it was the most important thing. If we hadn't known, we could very well have let him sleep longer than he should have and the consequences could have been tragic. The most dangerous time for kids with this disorder are the first few days of life (when breastfeeding is not well established or mom's milk isn't yet in) and during times of illness (when parents waffle about whether they should seek medical attention or attempt to treat an illness at home with fluids and TLC).

In less than 24 hours, my emotions had gone from blissful love of our newborn to fear and uncertainty and panic to largely thankfulness (and more blissful love, of course). I was thankful that the lab technician who fed those little drops of dried blood through the machine spotted the abnormality late on a Friday night and called the metabolic specialist to report it. I was thankful that the metabolic clinic contacted our pediatrician with information that could save LB's life and that our pediatrician called us after hours on a Friday night to relay all this information. He told us that he had trouble locating our contact information and had to call the postpartum unit at the hospital to get our contact info off of my chart (and convince them that the situation was urgent enough that they should ignore the HIPAA laws that would ordinarily prevent them from sharing this information without a signed consent form from us -- something they could only get if they had our contact info in the first place). When he got off the phone with the hospital, he had multiple phone numbers for us and our home address and he said he was prepared to show up on our doorstep, if necesary, to check on LB's welfare that night to make sure he was ok. What a great pediatrician!

While we certainly would rather this not have happened to LB, it seems like it will be manageable and he will live a healthy, normal life. We will just need to be extra attentive to him during his first year (delaying the holy grail of parenthood -- having your kid sleep through the night -- for a little while longer) and keeping an eagle eye on him to make sure he's getting enough nutrients when he has an illness.

We want to make sure that LB remains healthy and happy and we will do everything in our power to make that possible. We also want to make sure that he lives a normal life. We don't want this diagnosis to dominate his existence. He is not a "sick" kid. He's our adorable little boy, who may very well need an extra snack now and then. That's all.