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!!

First Shiner!

Landon took a spill the other day at my moms house, and now has his first black eye. Poor guy, he was running and having so much fun and he got ahead of himself and tripped and fell. I felt so bad for him. His eye doesn't look as bad as I imagined it would, but it still breaks my heart. I know he is a little boy, and this is one of many bumps and bruises he will get...but I was hoping he would be a little bit older first.

The scrape under the nose is from a previous fall running at Starbucks. He looks so peaceful, and needless to say it has not slowed him down any at all. In fact other than right after it happened, he has been his normal self. Full of constant movement, curiosity, and love!

Hair Cut!

Landon got his summer hair cut yesterday! I asked the lady to trim and fade it, yea umm she apparently didn't understand. It is much shorter than we wanted it, but at least he will be in cool in this warm Arizona weather! And, it will grow back. His hair grows really quick so maybe we can go longer between hair cuts this time. The lady wanted to buzz it, and I told her absolutely not, I can do that at home by myself...ha ha.

Front View of his haircut.

Back view of his haircut.

Geneticist Appointment 5/4/2010

Scott and I took Landon to Phoenix yesterday for his check up with the geneticist. They did all the usual stuff weight, height, head circumfrance, etc. He hadn't changed much except he gained 6 oz from his 15 month appointment so he now weighs 22 lbs and 8 oz. His head is 50 inches and he is still 33.75 inches long!

They said he looked great. He is on par for development...he is normal and above normal in all areas. They were all very impressed that he now has 30 asl sign words that he uses all of the time. They also loved that he has 3 animal sounds...cow, lion, and pig!

We are keeping his diet the same...20-30 grams of fat a day and the rest low fat. We will be staying on Lipistart until he is 2. He is to stay on his Zinc and on the 4ml of Levocarnitine 3x/day.

The only thing they really brought up was that he should start stringing 2 words together soon (like bye-bye, uh oh, etc). And that hopefully he will start adding more actual words to his vocab, which he will he is still in the normal range according to his pediatrician!

We don't go back until September since he is doing so well. They told us again this visit that everytime they see him, the milder form of the disorder they believe he has. They told us, "He is on the very mild end of the spectrum for VLCADD!" So, we are very happy with this. They also told us we only really have to worry when he gets sick, we are doing everything right with him because he has been so healthy and is doing so incredibly well!

We got our letter to apply for SSI, and now all we are waiting on is to hear back about his labs from his blood draw! They are also supposed to get back to us to see if Insurance will cover a blood test to see where his exact dna mutation is so we can have it to compare to future children. Hopefully they will, but we have to wait and see.

We had a great appointment, and are thrilled with how well he is doing!

15 months!

Wow, sorry we have been MIA lately! Life has been hectic and busy, but in a good way!

Landon turned 15 months on the 19th, and he is into everything! His stats are:

Height: 33.75 inches (+97%)

Weight: 24.2 lbs (25-50%)

So, my little guy is still a big guy! He is growing by leaps and bounds, he has 25 + sign language signs, he has about 10-20 words as well.

He loves to climb all over everything, but specifically the kitchen table to get to cups or computers or whatever else he can find up there! He is really into reading books, playing with balloons, going on rides in his car, and much much more.

He has learned a few animal sounds and they are so cute when you ask him to say them. He will tell you that a cow says "moo" and that a lion says "roar" (but it sounds like a growl!). He has a book with animal pcitures and he loves to read it over and over and over again, it's so much fun!

My favorite thing that he does now is if you ask him "Who's Landon?" he will point to himself, so stinking cute!

Other things that Landon does: he loves to talk on the phone and says "hi" and "bye", he loves to chase Boomer around the house, loves to go outside and play in the dirt and runa round the back yward and climb on our view fence, he loves to put on all of our shoes and walk around the house in them, he loves to squeal, is a pro at throwing fits, and loves to play the piano at my mom's house.

I will post a pic as soon as I get it off of our camera, which is currently dead...boo.