Tuesday, June 22, 2010

Landon is a medical anomally!

First off for those that don't already know, we are expecting baby #2 mid December! After talking extensively to the Geneticist, the Genetic Counselor, as well as having the OB and Pedi talk to them as well we decided to go ahead and have the blood test done to try and find Landon's DNA mutations that are responsible for him having non-cardiac VLCADD.

So, yesterday after about a month I finally got the results back from his test. It took a few days to get a sit down over the phone conversation with the Geneticist as well...we understand they are busy. They discovered one of the known mutations that causes his disorder. Then, they also discovered a mutation that no one has EVER seen before! It's crazy to me and they are quitre surprised by it, but he will now be the subject of lots of journals and teaching materials. They are convinced that this 2nd mutation is what causes him to not show any outwards signs or even present as having the disorder unless he gets sick with a gastric bug! As well as telling us this is more than likely why he has no issues with his heart liver, or muscles that they can find anywhere. Is it odd to be a proud mommy, since he has taught the medical community something new! This will also help in treating him in the future, since they now know that he does not have both known mutation for the disorder, only one!!

Now what this means for this baby...we will have an amnio at 17 weeks (which I am scared to death of). This was chosen as the best course of action because according to the Geneticist if baby has VLCADD, then there is a small chance that it can be passed on to me until delivery. Obviously, we are hoping to find no mutations in this baby. But, if we do find the one that is known to cause the disorder...they will not be able to tell us for sure if the baby has the disorder or not. We will know that baby will then have a 25% chance of having the disorder (same exact as Landon's), and a 50% chance of being a carrier. But, that they will not be completely unaffected. Please, Please, Please....pray or whatever you do that they do not find any trace of the mutation that the causes the disorder in this baby. Landon would be my special guy, and that would be it.

If baby does have it, we know how to handle it and live with it. It would be the same thing we are doing with Landon now. We also know now that they would not keep baby in the NICU for a longer hospital stay to be watched. We would get to bring them home at a regular time (barring anything else like being a preemie, etc), and they would just be on the same meds as Landon. I can still nurse, but may have the same protocol as Landon where he was nursed 1/2 the time and fed Lipistart the other half of the time. But, we are hoping and so far they are saying without the second known mutation that we could probably exclusivley nurse and give the baby Carnitine.

I am excited that we were able to help teach Dr's and hopefully help other families by the finidings from Landon's test, but also a little bummed that we may not be able to know for sure if this baby has the disorder or not. Thoughts and Prayers please, please, please.

Wednesday, June 9, 2010

New VLCADD info

I met with a genetic counselor on Monday to talk about amniocentesis for this new baby. We are going to have one done at 17 weeks as long as the lab in Houston can find the 2 DNA mutations (1 from me, and 1 from Scott) that Landon has. If they cannpt find the mutations, then we will not being doing the amnio because there is no point.

If the amnio is not done, then once the baby is born they will be treated like they have non-cardiac VLCADD (just like Landon), until they know otherwise. Luckily, if the new baby does have it, then it will be exactly the same as Landon's because it is the same DNA mutation. Of course we are routing for unaffected or carrier only status for this one. Also, if we cannot do the amnio, or it comes back as the baby having VLCADD then starting at 26 weeks I will have to have weekly blood draws to check my CK (Creatine Kinaise...tells you if the body is breaking down your muscles) levels and Liver enzymes tested. The same exact tests they do on Landon every time we go to the geneticist in Phoenix. So, we are hoping and praying (and really hope you will join us as well) that they can find Landon's DNA mutations. We should know in the next week or so.

I did learn some new information about VLCADD genetically speaking from the genetic counselor we talked to at the High Risk OB's office. So, here is what I learned:

  • The mutation for VLCADD occurs on chromosome 17
  • Since Landon has the non cardiac version, his body isn't missing the entire protein the chromosome makes, just a part of it.
  • Scott and I's are the same way..although we make more of the protein then he does b/c we are only carriers.
  • To find his mutation they will literally unwind the chromosomes and look at place (it think its 68) to see where the protein code is off, or where it varies from "normal".
  • Then when/if we can  have the amnio done, they can go to that exact place and look for it on the babys 17th chromosome

Wednesday, June 2, 2010

Big Brother!!!

Landon is going to be a big brother on/or around December 15th!! We are so excited and can't wait to find out if it's a boy or a girl!!