Saturday, March 6, 2010

Geneticist's Appointment

Landon and I made the Treck up to Phoenix on Tuesday for our Geneticists Appointment. This was only a check-up, and it went really well. I talked to them about his fat intake, cooking oils, development, SSI, his diet, how he's doing, protocol for when he is sick, and medical ID bracelets. I also picked their brain about knowledge of his particular gene mutation, and what made him "mild" and non-cardiac as well as if we have future children what their form of the disorder would be. Unfortunately we did have to get blood work done, the worst part of it all. Hopefully we will get the results back on Monday.

The Nutritionist and I went over his diet, and they said we are doing great with it! Which I am very excited about. They uped his fat intake to 20g a day, so that means we can be more liberal on what we give him...which I am super happy about! We also decided that using Walnut Oil to cook with is the best bet right now. They would prefer MCT Oil, but since it is $50 a bottle, Walnut Oil works great! We also talked about introducing fish into his diet. We haven't actually done this yet, and they were nice enough to send me a chart of the different types of seafood and their fat and calories. So we can just look it up before buying it and know which ones Landon can have all the time, and which ones should be more on a limited basis. I feel great about his diet now, and knowing that we are doing things right! I also asked them about MCT butter (or is it margarine..I forget right now), that my friend Fie told me about! Apparently a pharmaceutical company in Germany makes it and sells it. You have to have a prescription to get it, so they are going to look into it and let me know about it. I hope we cna get some, it would make cooking and other stuff much easier...especially baking.

The Geneticist came after the Nutritionist and checked Landon over. He said he looked great, and was doing great! They want to do an Echo Cardiogram on his heart when we go back in May, just to make sure that they aren't missing anything. They are positive it is fine, they just want to reassure themselves, and us I think.

I talked in great deal to the Geneticist about further children and the New Born screening. I learned a lot of useful and interesting information. If we do have another child that is affected with the disorder, they will ne no worse than Landon. So, that makes us feel a lot better about having more children. They will still only have a 1:4 chance of having the disorder, but since it is the same gene mutation, it will not be any worse than Landon's type of the disorder!

The Geneticist and the Nutritionist is also putting a letter together for us so we can try and apply for SSI. Hopefully Landon can get it, it would help us a lot with his medical expenses and formula. SSI is now finally accepting metabolic conditions for the here is to hoping we can get accepted.

We also decided that in the near future it would probably be a good idea to get Landon a Medical ID Bracelet. We aren't sure what kind yet, but just a simple one that he only has to wear if he is away from us. That way if something were to happen, they would know about his disorder and what to do until he could get to a facility with doctors who know him, or about his disorder.

So, we are now waiting for blood work, and to hear when and where they want us to do the Echo. Our pedi would like it to be done down here with an amazing Pedi Cardioligist that he knows. I will let them iron all that out and tell me when and where to have it done!


  1. Yeah :) It sounds like you have a handle on everything. It was great seeing you. Looking forward to May :)

  2. Hi, I found you at Lisa Leonard's. Your story was interesting to me as my son has MCAD-he's 4y/o. I went to and made him an id bracelet. I put his MCAD and the geneticist's cell phone on it. What I like about these is that they can be in a velcro bracelet or attached to his shoe. i currently have it on his school bag. It buys me some peace of mind whenever his away from me or we are traveling. I feel your anxiety! I hope you win the necklace. --Julie