Metabolic Appointment

We met with the Metabolic Specialists at Children's Hospital this week. It was our first visit to a Children's Hospital and we were immediately in awe of how kid-focused everything was -- from the colorful waiting areas complete with toys to the little red wagons they use for transporting kids around.  We were anxious to hear more about the condition LB has and get complete information on how we would be able to keep him healthy.  I admit that I was a little bit scared of what we were going to hear.

The first thing they did was to weigh and measure LB and they were keen to note his weight in kilograms (for reasons I'll discuss later).  We then met with a genetic counselor who talked to us for more than an hour.  She took a complete genetic history of both my husband and me, in addition to educating us on how LB inherited MCADD and how the newborn screening system alerted them to contact us.  She then told us about MCADD and what we would need to be aware of to ensure that LB remains healthy.  More details on these in future posts...

Basically, we need to keep careful tabs on how much and how often he eats, especially during his first year.  His body cannot rely on stored fats for energy like that of a person with normal metabolism, so his body has to rely on glucose.  Right now, he is getting glucose from breast milk, but when he expends that energy, he has only a small store of glucose in his liver than he can rely on for back-up power.  As he grows, that store will grow larger and he will be able to go longer between feedings.  For now, the rule of thumb is that he can go one hour between feedings for every kilogram of body weight he has.  He is 3.375 kg now, so he can go about 3 hours between feedings. 

In times of illness, we need to be extra careful to monitor how much he is eating and how much he is keeping down.  If he vomits, for example, we would need to go back to his prior feeding and count the number of hours it has been since his last meal in order to accurately assess how often it has been since he last ate (and retained the food).  We were advised that they would likely have a very low threshold for simply admitting him to the hospital for IV fluids in times of illness so that they could be sure that he is getting the fluids that he needs to keep his body from going into metabolic crisis, the consequences of which can be devastating.  We were provided with an emergency letter to present to the Emergency Room staff which describes his condition and his need for immediate medical intervention to prevent life-threatening complications (it sounds very scary for a reason -- it's meant to scare the ER docs into treating him swiftly and aggressively, even if his illness seems minor on the surface because it's what's going on with his metabolism that is of concern and we can't observe that just by looking at him).

We were also given a prescription for Polycose, a glucose-rich powder that we will need to feed to him in times of illness to make sure that he's getting enough glucose to maintain his metabolism.  In a typical child, you would feed them pedialyte or gatorade to maintain their electrolyte balance in times of illness, but we were told never to feed LB straight pedialyte, only pedialyte that is doctored with his prescription polycose since pedialyte doesn't have any sugar, which he will desperately need when he is sick.

We asked if he would need a special diet and they told us he wouldn't.  He just needs to eat regularly and probably have a good, hearty bedtime snack once he's old enough to sleep through the night.  He doesn't have to avoid any foods or do anything special.

We asked if he would be able to do all the things that normal kids do -- play sports, etc. and they assured us that he would, as long as he eats well and avoids fasting.

We asked if the clinic treats a lot of kids with MCADD and they said that the state screening program has picked up approximately 20 kids since the screening program for MCADD began 6 years ago.  All of them are healthy and doing just fine, although they cautioned us that some parents of MCADD kids tend to over-feed their kids, which is unnecessary and can cause weight issues.

Unfortunately, they did relay a story to us that was quite sad.  Ironically, it was also one that I remember reading about while I was pregnant with LB.  A baby died when he was four-days-old and his newborn screening came back positive for MCADD the very next day.  The baby fell asleep in his mom's arms and never woke up.  His parents didn't know that he had MCADD and needed to eat frequently.  The hospital where he was born didn't courier their screening cards to the lab, there was a weekend involved and the end result was very tragic.  How very thankful we are that our newborn screening result came back so quickly.  I don't dare think about what would have happened to little LB if we hadn't gotten the call until Monday morning, instead of when we did -- late on a Friday night.

The clinic will see us every few months for his first year, since so much changes in kiddos during their first year.  After that, they will likely only see him about twice per year.