Tuesday, December 1, 2009

Geneticist Appointment

We saw Landon's Geneticist today, and were reminded again how much God has truly blessed us. We had a great appointment. They said that Landon looked perfect, and was doing great. We met with the nutritionist and went over (again) the food guidelines that we were given about a month ago. We talked about his issues with not getting enough Zinc, and how much he was eating...mostly the usual. Then we saw the Geneticist and I'm guessing she was a resident, but I have never met her before and she was learning from him. We went over Landon's stats...he is 9.5 Kilos or about 21 lbs, and 30 inches tall! Everyone kept telling me that I need to push the sippy cup on him more, and it's time to start weening him off of the bottle. I really wish they understood that this is easier said than done in our house. I will get back on track with it though starting tomorrow.

We talked with the Geneticist for a long while going over the things to watch for when he gets sick, his fat levels, how much Zinc he is taking, how much Levo-Carnitine he is on, how he has been doing, etc. I asked him about having more children and he repeated what we already knew that since VLCADD is an autosomal recessive DNA mutation that we have a 1:4 chance of all future children also having this disorder. He said that usually if siblings have the disorder as well that they seem to have the same pattern within the family..meaning that since Landon has a VERY mild case of the disorder, it is very likely that if we have another child with the disorder they too would have a mild case just like him. He also reminded just how blessed we really are that Landon has such a mild case, and that after a few more rounds of blood work (we will get to that in a minute), we may be able to liberalize his diet a little more...since they know more about how his enzyme levels are and how is body is "coping" with the disorder, fat intake, and levo-carnitine. He also told us, once again,  that Landon does not present any of the signs or symptoms of the disorder except that his body does not make enough of the amino acid, Levo Carnitine, needed to break down the Very Long Chain fats and move them across the appropriate cell membranes. As well as his muscle enzyme levels are a little bit elevated, but not to any level that we need to be worried about. He said that the level to which they are raised on a normal person could be because they fell on their butt and got a bruise. It is not something that we can ignore, and we need to be mindful of it and watch it, but it is nothing to worry about, and he is not surprised by them and is very happy that this is the only "symptom" of VLCADD that Landon exhibits. They checked his liver to make sure it wasn't enlarged, and of course it isn't and his heart sounds great so all in all he is one happy and healthy little boy. They were very excited that he is already walking and talking and is constant movement! We will be keeping him on his Zinc supplement until further notice, and according to the Geneticist Landon isn't the first one with VLCADD to have had a Zinc deficiency, even though it has never showed up on any of his blood work.

 Landon's specific case of VLCADD is that he has the mildest for of the disorder where he has NO heart or liver damage, no heart arithmia, or muscle issues. His form of the disorder deals mainly in the form of hypoglycemia meaning that his blood sugar can not get low (which is why until he was 6 months old we were having to wake him up every 3 hours to feed him), he can't ever fast, and he cannot get dehydrated. If any of these things occur and they are ignored for a period of time (we are talking about many, many hours to days) it can become dangerous to him and he does have the possibility of going into a coma...which we all know will never happen since we are so on top of everything. We were also told that if he seems lathargic, sleeps more than normal, isn't active like he is, vomits for more than 6 hours or refuses food for more than 6 hours then we are to take him to the ER and have him put on a glucose IV until he is better, his appetite returns, or the vomiting stops and he is able to keep foods down again.

Now about the blood work. Let me tell you I hate when we have to have his blood drawn. I don't use the word hate often, but when it comes to having to have Landon's blood drawn eevery definition of the word describes it. To get his blood drawn, they make me sit in one of the chairs with him, that has the little part that comes down in front of you. They of course put the arm thing down, and then make me grab the arm they aren't going to draw blood from, and hold him in a "bear hug" while trying to pin his feet and legs between mine so he cannot squirm. So inevitably this makes him scream bloody murder b/c he does not like to be held down, and because I am convinced that he knows exactly what they are doing. Then they put that rubber band thing around his arm, which scares him even more and makes wiggle and yell louder. Then we get to the actualy blood drawing part...he screams more when they put the needle in his arm, and inevitably because he has himself all worked up it takes forever for them to draw the blood since he is so rigid, and trying to free himself and crying and yelling...and by this time I am trying to sing to him and talk to him to try and clam him down so the blood will flow faster and we can get all of this over with...all the while trying not to cry myself. Let me reiterate I hate having to get his blood drawn. It is a tramatic experience for both of us, but I also understand it is completely necessary so they can monitor his Carnitine Levels, Liver Enzyme Levels, and Muscle Enzyme Levels so we know how well he is doing and if we can liberalize his fat intake at all. Thank God they only take his blood every so often and not every visit.

We rewarded ourselves, and Landon, with Cheesecake Factory for dinner with great friends including Landon's God-Father. Landon had a few *tiny* bites of cheesecake for being so brave today while everyone squeezed him, and checked him out, and drew his blood.

We are headed back to the Geneticist on Friday, but this time for the Metabolic Clinic's Christmas Party. I am looking forward to it, and to meeting other families that are going through something similar. Santa will be there for the kids, so I hope Landon will sit onhis lap for a picture, and we are taking a toy donation for Toys for Tots, as well as making something to share. It should be fun and I promise to take pics and post them up once we get back.

1 comment:

  1. He's getting so big. And he's such a happy boy : )

    Ooh, blood drawing does not sound good : (