Tuesday, June 28, 2011

6/17/2011 Geneticist Appointment

Landon had a Geneticist Appointment on 6/17/11 with the Geneticist in Phoenix.It was pretty un-eventful. We went over the information from his appointment in Ft. Worth on March 10th and the changes they made to his meds, diet, etc. The geneticist agreed with them and said that the Ft. Worth Geneticist did a very good job, and he agreed with and supported and loved everything that she had done. He examined Landon to make sure that everything looked and sounded fine. No heart murmurs, his liver is no enlarged and he is very active. Landon is 37.25 inches and 31.3 lbs. The Geneticist asked if he knew his colors, also saying "well, he's 2.5 so probably not." So I told him to ask him, and Landon named them all correctly. So the geneticist said "I take it he doesn't have any intellectual delays" and I looked at him puzzled and said "no, absolutely not." He then told me he wasn't developmentally delayed either, and I said "yes, that is correct." Those things took me off guard and kid of bugged me. Landon has NEVER had any of that, and they should know that. So we explained about being in Dallas and that whole mess and why we were back there with them.

Since Landon had had blood drawn in May because he was having leg pain and we wanted to make sure it wasn't due to raised CK levels or causing other issues such as cardiomyopathy, etc. Leg pain can be the first sign that his body is breaking down his muscles and using them for energy instead of the MCT Oil that he is taking for that..it is VERY bad, if not treated (D10 IV for a period of time), then it can cause Renal Failure and kill him. I explained all of this to the Geneticist and told him that the Genetic Counselor from Ft. Worth called them to ask them about it and where to get his blood drawn, I called, and the Ft. Worth Nutritionist called as well. He told me that he NEVER got a message or anything about it and knew nothing about what was going on...ummm, this concerns the heck out me, and is not acceptable. He was going to look into it and see what happened.

So, we don't have to go back and be seen until December 16th. So they have extended his visits in between to 6 months which is great. They are still thrilled that he has only been hospitalized once in his entire life...which is apparently unheard of.

His Regiment is as follows:

6 mL MCT Oil 4X day
6 mL Levo-Carnitine 2X day
1 DHA Vitamin 1X day

I'll leave you with some pictures of the kids playing in the pool:

E loved these little fountains and splashing in them.

I could not get him out of the water, he's like a little fish!

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