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