The New Normal...Without an Alarm Clock

As I mentioned in a recent blog post, I had a little bit of trepidation about no longer tracking LB’s feedings.  After our latest round of doctor’s appointments, all signs pointed to me needing to let go and just let him be a normal kid.  He can now have a normal kid day for meals – breakfast, morning snack, lunch, afternoon snack and dinner (kids already eat a lot don't they?) – without me writing anything down.  He can sleep for 10-12 hours at night without being woken up to eat. Granted, we still need to have a general idea that he is eating regularly throughout the day and we’ll still need to keep close tabs when he is ill, but we don’t have to track every morsel quite so closely on a day-to-day basis when he is well. 
 
Our older (not affected by MCADD) son had given up his middle-of-the-night nursing and was regularly sleeping through the night by the time he was about 6 months old.  Although it was only less than 3 years ago, the concept seems completely foreign to me now after parenting a child with MCADD.  “He can really sleep ALL NIGHT LONG?” I asked our metabolic specialists.  “Yes, he can safely go for 10-12 hours now,” they reassured me.  Wow, 10-12 hours is kind of like an eternity when your last year has consisted of gradual steps forward from feeding the baby every 2 hours, then every 3, then every 4…  Whatever will we do with this much sleep?!

This new philosophy on his feedings has been both terrifying and liberating.  Even though our trusty alarm clock doesn’t ring at 3:30 a.m. anymore, my internal alarm clock still does.  I still wake several times during the night with my first inclination being to look at the clock and figure out how long it has been since LB’s bedtime bottle.  Instead of springing out of bed to feed him, I now have to talk myself out of going in and feeding him just in case (which I am successful at doing about 95% of the time) or merely creeping into his room to check on him (which I am successful at doing about 50% of the time). 

It has only been a week since we stopped keeping track of his food intake in our notebook and stopped setting the alarm at night and I’m already sensing some differences.  To all outward appearances, I’m sure he’s just a normal toddler to everyone else, but knowing that I can hand him a sippy cup of milk without measuring how much is in it or calculating how much he drinks is a definite source of relaxation for me.  I'm starting to see LB as a regular kid instead of as a baby to be cared for with extreme precision and diligence.  In addition, I’m starting to see LB relish his overnight sleep.  He is still waking once per night (and I’m still feeding him when he wakes up), but he seems to be sleeping more restfully and waking up more happily with each passing day. 

Our plan forward is to let LB drop the middle-of-the-night feedings on his own.  If he wakes up, we’ll give him 4 oz of formula (which is quicker and easier to deal with in the middle of the night than having to run to the kitchen for milk). Our older son dropped his nighttime feedings on his own without crying it out and I’m confident that LB will do the same when he is ready.  It might take a while considering how artificial his overnight sleep schedule has been to date, but I know it will happen eventually.  It’s only been a week and I’m already seeing him rest more peacefully, so it might be sooner than we think, too.

Metabolic Appointment

We just had our one-year appointment with the metabolic clinic and in many ways, it felt like a victory celebration.  I remember at our very first appointment, they told us that the first year would be the most difficult, but that LB would be more and more like a "normal" kid once he reached that milestone.  He would be able to go longer between meals as his body grew and matured.  He would be able to sleep through the night.  He would be able to eat on a more normal schedule (instead of every few hours around the clock). All of this is true now.  When he is ill, we still might need to wake and feed him, but when he is well, we were given the green light to let him sleep for 10-12 hours at night (provided he eats well during the day and has a hearty bedtime snack).

His metabolic specialists are not recommending any special diet for LB.  They did give us a great list of healthy bedtime snacks that I will post later, but other than that, we were told to feed him a normal, age-appropriate diet.  Apparently, they used to recommend a low fat diet for children with MCADD and refer them to a dietician, but they don't see a need to anymore. They said he could transition from formula to milk and didn't need to move into a toddler formula for any period of time beforehand. 

I have read a lot about children with MCADD being given cornstarch in milk as a way to maintain blood sugar, but when I asked about it, they also said it was unnecessary for LB.  They mentioned that cornstarch is often recommended for something called "brittle MCADD" where children with MCADD also have an on-going issue with low blood sugar.  LB doesn't seem to have any issues with blood sugar, so as long as he's eating normally, there wouldn't be a need to dose him up with cornstarch for a blood sugar boost.  We also, of course, still have the polycose in the cupboard which we can use to introduce additional sugar to his diet during times of illness.

They are doing some bloodwork to check his carnitine levels (which they do at every appointment) and they will let us know the results.  If it is low, we may need to supplement him with oral carnitine, which we already have on hand to use during times of illness.  We should know that within the next week.

Speaking of bloodwork, we finally got around to talking about my acylcarnitine profile results, too. Everyone in the family had a acylcarnitine profile performed shortly after LB's birth to confirm that no one else in the family has MCADD. My husband's bloodwork and our older son's bloodwork came back stone-cold normal. Mine came back with two abnormal results - an elevated C4 and C8. They told us that it wasn't MCADD, but I kept forgetting to ask at our other appointments and I was still curious what it might be (it just seems strange that such an unusual bloodwork panel would come back abnormal for someone who is seemingly healthy, but who has a child with MCADD). They surmised that it may be indicative of my carrier status, but that it wasn't anything to be concerned about. It definitely wasn't MCADD.

We spent quite a bit of time talking about genetics at this appointment, too.  The doctors inquired whether we were planning to have more children and at this point, we're just not sure.  We think we may be done, but there is what we keep referring to as "that nagging 1%" chance that we might try for #3.  They told us that there were a few options for pre-natal testing to diagnose MCADD.  We could opt to do in-vitro fertilization and select only the embryos that are not carriers of MCADD for implantation or we could conceive naturally and take our 1 in 4 chance that our next child would be affected by MCADD (and 2 in 4 chance they would be a carrier or 1 in 4 chance that they would be neither affected nor a carrier).  If we conceived naturally, we would be able to test for MCADD using an amniocentesis or we could wait until after birth to conduct a blood screening.  If we waited until after the baby was born, they would recommend that we feed formula and do the blood test immediately to make sure that the baby would be safe until we knew his/her MCADD status for sure.  We would not have to wait for the traditional newborn screening test results to find out, although the screening would still be conducted.

We also got the results of LB's DNA analysis.  They screened for only the common mutations and found that LB has one common mutation and one uncommon mutation that they were unable to locate within the bounds of the DNA mapping that they performed.  We would need to talk to our insurance company to discuss the cost of a full DNA analysis to find LB's other gene mutation and it could be pretty expensive.  Apparently, insurance companies tend to balk at paying for this level of testing since it doesn't change the course of treatment, so it would likely be a hefty out-of-pocket expense for us.  We agreed that we would not pursue the full DNA analysis at this time, but that maybe in 20 years when our kids might start thinking about kids of their own, they may choose to pursue that more extensive testing to determine 1) whether our oldest son is a carrier and if so, of which mutation and 2) what the uncommon mutation is for LB.  At that point, DNA mapping will probably be a whole lot less expensive, too.

In all, it was a great appointment.  It's always great to hear that your child is doing well and developing completely on schedule.  Considering how worried we were the first time we set foot in the metabolic clinic one year ago, this appointment was a breeze.  We'll only need to be seen every six months going forward (another benefit of LB getting bigger and out of the critical and worrisome first year).