Lactase Deficient

"If I've gotta give my kid an autosomal recessive condition, I'm thankful for what it is. "
       -This was one of my thoughts on Thanksgiving. 


The Tuesday before Thanksgiving, I took Chiron in for an appointment with the pediatric gastroenterologist.  He agreed with me that Chiron really was looking great and seemed to have turned a corner.  I told him that we were five days into a trial of not having Chiron take his GERD meds and we jointly celebrated.  Then we discussed that nothing had turned up from his scoping the week before.  We agreed that we were both comfortable with waiting two months until his next appointment, which is huge for a kid who had been in the 2-4 week schedule and then I started packing him up to go.  Then the doctor popped up that he just realized that he hadn't seen the results for one test and so he wanted to go see if they had it yet so we could be completely done.

I followed him out into the hall as I was having him grab the results of the lead test that I'd had him order with a previous blood workup (I refused to take a kid who was getting blood draws every two weeks for an extra blood draw just to test lead and thus his GI ordered it even though it was his primary that wanted it). 

Then his face suddenly screwed up and there was a look of complete surprise.  He turned and asked us to go back into the room.  He told me that this was not the result he anticipated, but the disaccharidase panel showed that he was seriously lactase deficient.

Basically, he's lactose intolerant.  But not like normal people.  The normal condition is for lactase levels to drop in humans as they get older and need a less milk-based diet.  And this includes some people whose levels drop so low that they are lactose intolerant.  Babies, not so much.

Being able to digest lactose is really imperative to survival.  All mammals produce lactose as the sugar in their milk, so it's not just a case of the mother obstaining from dairy.  The only treatment is to provide a food source that doesn't include lactose.  In our case, the Neocate that he was already eating along with his restricted diet fits the bill.

Apparently this condition of lactose intolerance as an infant is called congenital lactase deficiency and is a genetically controlled condition that he said is believed to be autosomally recessive.

It's really not a big deal now, but he did mention that even twenty or thirty years ago this likely would have been fatal, so I'm very thankful we live in this modern era (again and again). At this point, we will just continue his restricted diet (no dairy, soy, wheat, eggs, peanuts, nuts, fish, shellfish or beef) as the primary way to manage it.  His GI doc does think that even with this diagnosis (which is a clear diagnosis of medical fact/measurement rather than surmise) that Chiron likely has protein intolerance as well and feels strongly that Trajan definitely had protein intolerance, so Chiron is scheduled to see the allergist December 5.  They will likely schedule the blood food allergy tests (RAST if I remember right from Trajan) at that point to help rule out major reactions before we try any of the currently restricted food groups.

Apparently his already low levels of lactase will likely continue to drop off.  It is possible that he will be able to tolaterate small amounts of hard cheese and yogurt when he is older.

All and all I would say this is good news.  It's a diagnosis that is very easy for us to work with and gives us clear and easy things to work with in order to gain some weight.  And it makes me feel that causing this sad face was more worth it:

Though I do know some friends that would argue that a lifetime of being unable to eat ice cream is deserving of a face much more sad than this!

The boy behind the baby

In the last week or so, the boy that is going to replace the baby that we have known as Chiron has started to be be occasionally visible.  He's still definitely a baby, but the glimpses of the boy are coming more and more often.

This was his first time in a grocery cart.  And yes, he managed to maintain this level of joy for more than a full hour and wanted to stay longer!

He's definitely still a little guy, 15.5 pounds or about 7 kilograms, but he is getting much better at control of his movements, gross and fine.

He's also getting better at eating.  He is gagging and vomiting a lower percentage of the time now.  Despite this improvement, they decide to schedule a esophagogastroduodenoscopy for Monday.  The reason behind it is that he is still underweight (failure to thrive is a mean sounding term), has had some weird absorption issues show up in his blood and has had the gagging and vomiting issue.  I believe we aren't expecting to turn up anything that will change anything we are doing.  But in the case that something did show up, what "it" would be is something that we want to know.  Main negative is it does require general anaesthesia.

Right now, I dub a meal to be done when I run out of towels and bibs from catching vomit, but hopefully this will soon be a thing of the past!

We are loving the hints of the boy that are coming out and can't wait to see more as he continues to develop and master new skills! He next goes to the developmental pediatrician at the one-year mark where we are hoping he will be closer to his calendar age than his adjusted age in terms of milestones.  A couple weeks ago when we went he was about halfway between them on most dimensions.



Serious Progress, huh?

No "something"

Well, not officially no "something" yet, but I'm willing to call it.

Chiron and I successfully dropped Trajan off and headed to the hospital (I brilliantly dressed him in clothes to sleep in that he could also wear to school since he doesn't have a dress code right now).  We made it with plenty of time to wait. 

And wait.  And wait.  But, I really shouldn't complain since they did schedule all three procedures for the same day.  On the other hand, I had a baby who likes to eat regularly who wasn't allowed to eat, so maybe I can complain.  Between the wait before the brain CT and the wait between it and the stomach procedures, I walked miles with him in the pouch because that produces happier baby.

Here's evidence of that huge head we were checking for.  We went back for the brain CT first.  It was quick and easy.  Strapped him in and some combination of the swaddling, secure straps and just the new setup resulted in him not complaining at all.

I'm definitely not a brain expert, but looking at the picture in the viewing room, there was no obvious area of color change or big pool between brain and skull or anything like that.  Between that non-expert viewing and the fact that they didn't stop us right then and no one has called yet, I'm saying there was no "something" there.

Then it was back to the waiting room.  By this point he really wanted to eat, but I did successfully walk him to sleep:

And then it was back to the room where they did both the swallow study and his repeat upper GI.  Luckily, I was able to keep him asleep through the first half-hour discussion of what they would do and how to set it up, because when he did wake up, he really did want to eat.

They started with a swallow study which he was fine with as it meant eating something.  This time they mixed the barium with expressed breast milk instead of just doing the barium drink.  He seemed to like it:

Unfortunately, they only let him drink about 15 milliliters and then took the milk away to flip things to shoot the upper GI.  He was NOT amused:

He did get to eat some while he was flat for the upper GI and this improved his mood dramatically.  Then they finished and he got to go back in the eating chair to finish his bottle while they took more shots:

I also haven't gotten any official results on these digestive procedures, but did get some basic info from the speech pathologist. 

1. Still definitely has reflux, oh lots of reflux
2. He swallows later than is typical, so this is likely the explanation of some of his coughing/choking.  He does do a good job of protecting his airway though, so we should just support him through these episodes
3. He is not aspirating (woot)
4. He performs better with non-thickened milk, so we are not going to try the trial of nectar thickness expressed breast milk we were going to do this weekend

He did have one of his choking episodes after we left, so I was able to call the gastroenterologist with information on how long it had been after eating, the nature of the choking and the duration as he had wanted this information.

I'm unclear when or if I will hear anything official from either doctor, but I don't think we got any real newsflashs either positive or negative from these studies.  Slow and steady, tortoise, gradual progression from status quo, that's our boy.  And he's always been that way and it totally works.

Where do we stand now?  We are keeping him on both of medicines, Zegerid and Bethanachol.  He has an appointment August 5 to get a head measurement.  He has an appointment August 11 with the ENT.  The gastroenterologist said that the ENT will likely schedule him for some more visualization/scoping that will likely require sedation.  If she does and his head grows percentilewise again, we apparently may schedule a second MRI at the same time as the ENT imaging stuff.  And he goes back to the gastroenterologist September 6.

If he increases in frequency or severity of his choking episodes, the gastroenterologist says to call him and he will likely admit him to the hospital for more workup.  As this may end in a fundoplication, we vote to avoid that.  That said, if either of us starts to feel uncomfortable with the episodes, we will do it.

I did remember to warn daycare about the barium poops, so I haven't received a paniced call on that front!