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.