Amnio Results!

We finally got the amnio results for Emeline on Landon's Disorder (VLCADD). Emeline is only a carrier for the unknown "variant" for the disorder. Which means, that there is no way she possibly has the disorder!! We are so relieved and excited. I am very interested in talking to the geneticist about it at Landon's next appt on the 7th to see what they have to say about it all. We do know it is a variant of the disorder that no one has ever seen before, and they are very interested in it. The theory is that this unknown "variant" is why Landon does not present as or have the classic symptoms and issues as other children with the disorder.

I am most looking forward to not having to repeat the every 3 hour feedings until 6 months that we had to do with Landon, and this baby can be exclusively breast fed since she won't have to have any of the Rx formula's that Landon did...our wallets let out a huge sigh of relief!!!

On a ntoher note: Landon is doing wonderfully. He had pictures taken at Little Gym (see below). They are copywrited by Dodson Photography so please don't copy them. He's a bundle of energy and a ton of fun. He says lots and lots of words now like: mama, dada, hi dach (zach), boomer, yuck yuck, uh oh, tank ooh, bess ooh, hello, bye, uh huh, yes, yea, ma, tons of animal noises and their names" and many others. He also shakes his head no when he doesn't want something, and can jump and get off of the ground! It's crazy to see him change so much week by week!

Playing on the Parallel Bars is fun!

It's a Girl!!

Landon and Zach will be getting a little sister in December, we are so very excited to finally have a little girl in the house!! We are still awaiting amnio results on whether or not she has VLCAD like Landon, but it will probably be September before we know anything more about it. They also took blood from Scott and I since Landon has a never before seen DNA mutation, and they are curious to learn more about it! So, we are excited to see what they can find out about it. Prayers please though, that our little girl is unaffected by the disorder, and that we will get great amnio results.

We have come up with a name for her! We wanted a German name since Scott's heritage is German and mine is Irish...well Landon Patrick is about as Irish as you can get, so we went German this time around. So without further stalling, her name is: Emeline Arley Heise!!

I will post u/s pictures from our anatomy scan (all 3 of them), once I get the good camera charged since our scanner is currently on the fritz!

Happy 4th of July!

We spent the day at home relaxing and hanging out. We did some house work here and there. Scott and Zach put up a new baby gate at the top of our stairs, that is much much easier to use. We can also now put a gate across Landon's room when he gets his twin bed sometime in the early fall.

Scott grilled out and as usual made amazing steaks, and then we watched fireworks from our bedroom window in the air conditioning! Hope everyone had a wonderful 4th!

Playing with Daddy in the new outside fireplace!!

Looking up at daddy!

Playing with Grandma's dog, Jenna!

New Backyard Fireplace!

We had our fireplace installed in our backyard this week! We really love it. Landon also had a blast playing in it before we started painting it. He thinks it is a new play house! We really love it, and I will post more pictures when we are done painting it this weekend!

Landon having a blast sitting inside the fireplace. Good view of the flagstone floor and brick lining the inside as well!

Good view od the slate surrounding the opening, and a very happy toddler!!!

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.

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

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!!