"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!