Saturday, June 23, 2012

Metabolic Appointment

We visited the metabolic clinic again this week.  This was LB's second appointment with them.  We did the usual things -- height and weight, a visit with the genetic counselor and a visit with the metabolic doctor, followed by a trip to the lab for some blood work.  In general, things are going really well.  He's growing and developing right on schedule and his weight of 6 kg means that we can let him sleep for 6 hours at night before waking him to feed him.  We'll have to keep to that schedule until our next appointment in October.

A couple new things that we learned at this appointment...
  • Sometimes, kids with MCADD need a supplement of levo-carnitine.  Carnitine is a substance that removes toxins from your body.  Since people with MCADD can't break down medium-chain fats, their body treats those fats like toxins and uses carnitine to get rid them.  The problem is that they also need enough carnitine to get rid of the other, normal toxins in their body (don't know exactly what those are since I'm not medically trained, but anything that a normal person's body would use carnitine to get rid of).  If a person with MCADD can't make enough carnitine to take care of the normal toxins, plus the added fat toxins, an oral supplement of levo-carnitine is prescribed.  The oral carnitine can also be used in conjunction with polycose when a person with MCADD is ill (presumably to take additional stress off their system).  We were sent home with a prescription for carnitine and he has bloodwork done at every appointment that monitors his carnitine levels.  They told us that it's unusual for a child as young as LB to need carnitine supplementation, but that testing him regularly helps them establish a baseline.  They don't expect that we'll need to give him a daily dose of carnitine, but they want us to have it in our cupboard in case he ever needs it when he's ill.  Here's what it looks like...
  • They can do DNA sequencing to determine which specific gene in LB's body mutated to cause his MCADD.  A portion of the test is covered by insurance, but there are some out-of-pocket costs associated with the sequencing.  It doesn't change his treatment, but it can give us a thorough picture of which gene is responsible.  Although not necessary, we opted to have the DNA sequencing done.  We figure it might add to the knowledge base about this disorder and that can't hurt.  Plus, they already took the blood sample when he was there for his first appointment, so it doesn't involve another poke.

Friday, June 22, 2012

Three Months

Where did LB's third month go? The days sure seem to fly around here. We’re already almost at 4 months and I still haven’t given his 3 month update! Because I am so tardy, I will include all of the things he did while he was enjoying his third month.

Month 3 was eventful…
  • He now smiles, a LOT, and very socially which is tons of fun for everyone.
  • He flew on an airplane for the first time, attended his first wedding, visited his first new state and his first foreign country (he has a leg-up on his big bro on this one since it was his big brother's first venture off US soil, too).
  • He was finally convinced that his bouncy chair is entertaining. He can now kick and bounce with fervor instead of just looking forlornly for someone to come rescue him from the ergonomic, vibrating comfort of his seat (I kept telling him that adults would LOVE to have a bouncy seat like his).
  • He experimented with new types of vocalization beyond simple cooing. He can now screech, squeal, giggle and seems to be performing some early babbling – I could have sworn he said “thank you” when I retrieved his lost pacifier a few days ago.
  • He figured out how to hold onto things, his favorite objects to hold include – burp cloths (by far his favorite, he stares at any burp cloth you are holding until you actually give it to him and then he squeals as he puts it into his mouth), his ring of baby keys (I tell him they are the keys to Mommy’s heart and he smiles), his telephone rattle and his toy ball. He also really likes the grasping rings on his toy zebra and toy firefly.
  • He loves to watch his big brother and he loves to fly with his Daddy. He always keeps an eye out for Mommy, though. I’m still his favorite person to snuggle with. I’m holding onto that one for as long as I can since I know how much more fun Daddies can be for little boys who like to rough-house.
  • He has gained a lot of torso and leg strength as he can now bear weight on his legs (while we support him, of course) for quite a while. He often prefers to stand instead of sitting or being held.
  • He became mobile. He can now roll from his back to his front…and he looks pretty darn proud of himself when he does it. The pride lasts for a few minutes before he realizes that he can’t roll back onto his back and he’s not very crazy about being on his tummy – MOMMY!! HELP ME!!
  • He successfully weathered his first illness (coxsackie virus that causes hand, foot and mouth disease) without missing a beat on his feeding schedule and without needing any medical interventions -- woo-hoo! It was a mild case with only blisters on his hands and feet. The mildness of the illness was especially nice since it materialized two days before we were supposed to fly to Detroit for my brother’s wedding and we were concerned about 1) taking a sick baby on such a big trip and 2) potentially having to deal with hospitalizations in a different state. He did just fine and I feel like this gives us a little more confidence that he IS going to be a relatively normal kid.
  • His food intake grew pretty steadily. He’s now up around 32 oz per day and some of those feedings are in 6 oz increments. We’ve switched to the larger bottles and to the higher flow rate nipples in response to his growing appetite.
  • He continues to be a great sleeper and can fall asleep in practically any situation – noisy birthday parties, while hanging out on the bathmat as his big bro gets ready for bed, in the middle of a blanket while Mommy makes dinner (or dashes to prepare a bottle) and his big brother crashes around him with toys and books and other toddler antics. He can sleep for about a 6 hour stretch at night before we have to wake him, and most nights only involve one middle-of-the-night feeding.
  • He continues to gain weight and is now sporting the 3-6 month wardrobe. The idea of hand-me-downs between the boys hasn’t been so successful thus far. Despite the fact that I packed away all of our older son's clothes as he outgrew them, the fact that he was so always so big for his age and LB is more on the small-to-average size for his age combined with the November and March birthday span has made us almost exactly one season off with clothing. I opened the 3-6 month clothing bin to find it is mostly long sleeves and cozy fleece sleepers when I really need shorts and rompers for summer. Oh well, at least he got to use the 0-3 month sizes for a while.  His brother only wore them for a few weeks before he busted into the 3-6 month sizes (as a 1 month old!).